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100 Syndrome Flashcards

1
Q

What are the most common heart defets in 22q11

A

TOF, Interrupted aortic arch, conotruncal

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2
Q

Monitoring in 22q11

A

Ca level, PTH

Immune function: T/B cell subsets, immunoglobulins, and post vaccine antibodies (avoid live vaccines if immunodeficient)

Renal US

Laryngoscopy

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3
Q

Cholestasis + pulmonary artery disease + butterfly vertebra

A

Alagille syndrome

AD JAG1, Notch 2

+ posterior embryotoxon, DD, FTT

Dysmoprhic face: prominent foreheard, deep set eyes, hypertelorism, bulbous nsoe tip

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4
Q

ST segment abnormalities v1-V and norturnal agonal respirations

A

Brugada syndrome

SCN5A (AD), KCNE5 (XL)

FHx SIDS, unexpected death at night

Southeast Asian

Tx: Quinidine, defibrillator, avoid arrhythmogenic meds

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5
Q

Pulmonic stenosis + TFF + ichthyosis + keratosis + cupid’s bow lips

A

Cardio-Facio-Cutaneous syndrome

BRAF, KRAS (AD - consitutive activation)

  • Assoicated with ALL

+ sparse hair/eyebrows, bitemporal constriction, hypertelorism, downslanting PF

+ HCM, Pulmonic stenosis

+ atopic dermatitis + keroatosis + ichthyosis

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6
Q

Coarse face, papillomata, wrinkled skin w/ deep creases, pulmonic stenosis

A

Costello syndrome

HRAS (AD)

+ HCM

+ bladder ca, rhabdomyosarcoma, neuroblastoma

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7
Q

Epistaxis + GI bleed

A

HHT

ACVRL1, ENG, GDF2, SMAD4

  • Look for juvenile polyps in SMAD4
  • Screen for AVMs
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8
Q

Carpal bone abnormality + CHD

A

Holt Oram

TBX5 (AD)

  • Carpal defect always present, other hand malfromations possible
  • monitor for arrhythmia (even if heart structurally normal)
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9
Q

Lengtigines, HCM, short status, pectus, ptosis, hypertelorism

A

Noonan w/ Multiple lentigines

PTPN11, RAF1

Lentigines

EKG changes

Ocular hypertelorism

Pulm stenosis

Abnormalities of genetalia

Retardation of growth

Deafness

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10
Q

What is the mechanism of disease for Noonan spectrum disorders?

A

Constitutive activation of Ras MAPK GTPase pathway

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11
Q

Pulm stenosis, coarse face, cryptorchidism, bleeding disorder

A

Noonan

Rasopathy

Monitor: TTE, renal U/S, bleeding times

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12
Q

7p11 deletion syndrome

A

Williams Syndrome

ELN

Supervalvular AS, hernia, joint issues, ID

Endo issues: Hypercalcemia, hypercalciruia, hypothyroidism

Monitor: Hearing loss, diabetes, Ca levels, Thyroid, renal US, TTE

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13
Q

Stellate/Iacy iris, short nose w/ full tip, malar hypoplasia, full lips, wide mouth, small jaw, prominent earlobes

A

Williams

7p11.23 deletion (ELN)

Monitor: Ca, TFTs, TTE (aortic stenosis), Renal, hearing loss

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14
Q

What is the mechanism of Ataxia Telangiectasia?

A

ATM gene (AR)

ds DNA repair

+ leukemia and lymphoma risk

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15
Q

How do you manage Ataxia Telangeictasia?

A

Monitor for leukemia/lymphoma

IVIG if immunodeficiency

Avoid ionizing radiation

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16
Q

Growth restriction, immunodeficiency, photosensitivity, insulin resistance, azoospermia

A

Bloom syndrome

BLM (DNA replicaton/repair gene)

  • chromatid/chormosome breaks
  • Risk of colon and other cancers
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17
Q

Butterfly distribution sun sensitive telangiectasias

A

Bloom symdrome

BLM (AR)

  • growth restriction, azoospermia in males, cancer risk, immunodeficiency
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18
Q

Triradial and quadriradial figures on karyotype

A

Bloom syndrome

BLM

  • Increased sister chromatid exchanges
  • FTT, immunodeficiency, azoospermia in males, butterfly rash

Cancers (colon +)

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19
Q

Bone marrow failure, short stature, multiple congenital anomalies

A

Fanconi anemia

FANCA (A, C, D2, E, F, G), BRCA2 (AR), RAD51 (AD), FANCB (XL)

marrow failure (Pancytopenia)

Malignancy (solid tumors, AML)

Malformations (CNS, heart, GI, GU, ear, skeletal)

Dx with chromosome breakage analysis

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20
Q

Arachnodactyly + contractures + crumplied ears

A

Beals syndrome (congenital contractural arachnodactyly)

FBN2

+ Marfanoid

Managementt: TTE (IAA, VSD, aortic dilation) q2 yrs

Upper GI (duodenal/esophageal atresia)

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21
Q

Hyperextensable skin, heaped up scar-like lesion over pressure points, cyst-like lesions over bony prominences, hypotonia

A

Classic EDS (I or II)

COL5A1, COL5A2 -AD

  • Molluscoid pseudotumor (heaped up lesions)
  • Subcutaneous spheroids (Cyst like lesions over prominences) - fibrosed/calcified fat globules

+ Root dilation

Management: TTE for aortic root

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22
Q

What are the distinguishing features of EDSIII

A

No skin fragility, No heme manifestations (easy bruising, prolonged bleeding)

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23
Q

Which gene can cause a phenocopy of hypermobile EDS

A

Tenascin X

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24
Q

Organ rupture, translucent skin, easy bruising

A

Vascular EDS (type IV)

COL3A1

Major criteria: arterial/organ rupture, family Hx

Mino criteria: thin skin, joint hypermobility, easy bruising, club foot

Mointor by angriography

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25
Q

What are the dysmorphic features of vascular EDS

A

COL3A1

Thin philrum and lips

Cmall chin

Thin nose

Large eyes

Thin, transculent skin

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26
Q

Thin, hyperextensible skin + joint laxity + hypotonia + globe rupture + scoliosis

A

Kyphoscoliotic EDS (VI)

PLOD1 (AR) - crosslinking enzyme

EDS + severe hypotonia and scoliosis, scleral fragility, and rupture of globe

Tx: TTE for aortic root dilation, ophthal monitoring

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27
Q

Aneurisms + scoliosis + bifid uvula

A

Loeys dietz syndrome

TGFBR1, TGFBR2, SMAD3, TGFB2

Vascular (aneuryism/dissection)

Skeletal (pectus, scoliosis)

Dysmoprhic (hypertelorism, cleft, bifid uvula, craniosyntosisis)

Skin (thin, easy bruising, atrophic scar)

Tx: vascular surveillance, B blocker, losartan

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28
Q

Arterial vessle tortuosity, hypertelorism

A

Loeys Dietz

TGFBR, SMAD3 (AD)

Vascular + skeletal + craniofacial or skin

Management: Vessel imaging surveillance + losartan, B blocker

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29
Q

Scoliosis, high arched palate, lumbosacral dural ectasia, joint hypermobility

A

Marfan

FBN1 (AD)

Aortic root dilation/dissection

Skeletal: Pectus, < upper/lower segment,

ectopia lentis

Lumboscaral dural ectasia

Pneumothorax

Management: B blocker/losartan, ophtho

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30
Q

GJB6 diseases

A

Connexin 30 - gap junciton channel

Deletions = Deafness (AD or AR)

Trafficking mutations = Hidrotic ectodermal dysplasia

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31
Q

Palmoplantar keratosis, Malformed nails, hypotrichosis normal sweating

A

Hidrotic ectodermal dysplasia

GJB6 (AD) - missence variants that affect trafficking

ED with normal sweating and teeth

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32
Q

sparse hair, no sweat, hypodontia

A

Hypohidrotic Ectodermal Dysplasia

EDA, EDAR, EDARADD (XL, AD, AR)

Peeling skin and perioral hyperpigmentation at birth, rest may not be evident until childhood

Management: maintain hydration, dentist

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33
Q

What are the oculocutaneous albinism genes?

A

TYR - Tyrosinase (AR)

P - pigment (AR) - deletions common, part of PWS/Angelman region on 15q11

SLC45A2 (AR)

GPR143 (XL)

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34
Q

OCA1 vs OCA2

A

OCA1 has no melanin synthesis -> born white. + nystagmus, strabismus, vision acuity issues

OCA2 has some melanin synthesis -> vision better

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35
Q

Adrenal insufficiency, delayed puberty, cryptorchidism

A

X linked arenal hypoplasia congenita

NROB1, 1/3 is in Xp21 deletion syndrome (glycerol Kinase def)

  • Adrenal
  • Hypogonadotrophic hypogonadism (delayed puberty)

Tx: steroids, HRT

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36
Q

Salt wasting + Virilization

A

CAH

21 Hydroxylase deficiency (AR)

high 17-OHP (hydroxyprogesterone), high androgens/testosterone

Tx: Steroids

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37
Q

Female genetalia, 46XY

A

Androgen Insensitivity Syndrome

Androgen receptor (XL)

Can be complete or partial

Tx- remove testes after puberty OR prepubertal gonadectomy with estrogen replacement

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38
Q

delayed puberty, anosmia

A

Kallman

KAL (XL), FGFR1 (AD)

Can have ataxia, GU anomaly, high palate, pes cavus, CL/P, ID, choanal atresia, SNHL

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39
Q

Tall stature, azoospermia, gynecomastia, mild developmental delay

A

Klinefelter

47XXY

Tx: Testosterone replacement, sperm bank

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40
Q

GNAS Activating vs In activating mutations

A

Activating -> high cAMP ->Mccune albright (sporadic)

  • fibrous dysplasia, fracture, CAL spots, hyPER thyroid, elevated hormone, ovarian systs

Deactivating -> low cAMP -> Albright osteodystrophy (AD)

  • osteoma cutis (subQ nodules), osseous heteroplasia, pseudohypoparathyroidism
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41
Q

polyostotic fibrous dysplasia, cranial formaina thickening, ovarian cysts

A

Mccune albright

GNAS (activating mutations, sporadic)

Tx: bisphosphonates, octreotide, promocriptine, endo management

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42
Q

IUGR, diabetes in first 6 weeks of life - resolve by 18 months

A

Transient neonatal diabetes

HYMAI, PLAGL1

UPD1 (paternal), Paternal 6q25 Duplication

  • high glucose, low insulin
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43
Q

Lymphedema, hypothyroidism, delayed puberty, low hairline, cubitus valgus

A

Turner

45X (SHOX gene)

  • Cardiact: Coarctation, bicuspid AV, HLH
  • Gonadal dysgenesis 10%

Tx: check if Y chromosome mosaic - risk for gonadoblastoma, cardiac f/u

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44
Q

Increased deoxypridinoline to pyridinoline radio in urine

Crosslinked telopeptides in urine

A

EDS VI (kyphoscoliotic)

PLOD1

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45
Q

cauliflower like collagen fibers

A

EDS type I and 2

COL5A1 and 5A2

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46
Q

Free melanin granules on biopsy hyperpigmented streaks

A

Incontinentia pigmenti

IKBKG (NEMO) - NF kappaB modulator

XL (male lethal)

4 stages: verucous, blistering, hyperpigmented, hypopigmented

+ nail, teeth hypoplasia, retinal neovascularization

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47
Q

FOXL2

A

Blepharophimosis, Ptosis, Epicanthus Inversus (BPES)

FOXL2 -AD

+ premature ovarian failure, lacrimal anomalies

Tx: Surgery, ovum donation

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48
Q

GJB2 and GJB6

A

Congenital hearing loss

Connection 26 and 30

  • Can have palmar-plantar keratoderma (GJB2)
  • Look for splice site and deletions (trafficking mutations in GJB6 = hydrodic ectodermal dysplasia)

Tx: Cocklear implants

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49
Q

Hypopigmented skin, nystagmus, pulmonary fibrosis, absent platelet dense bodies

A

Hermansky Pudluck

HPS genes (AR)

  • Common in puerto ricans

Tx: DDAVP, skin protection, PFTs

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50
Q

SNHL + syncope, FHx sudden death

A

Jervell and Lange Nielsen

KCNQ1, KCNE1 (AR) - allelic with AD Long QT

  • Abnormal repolarization in heart and depolarization in cochlea

Tx: Cochlear implants, BBlocker, pacemaker/defibrillator

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51
Q

Bilaterally progressive subacute vision loss in 20s and 30s

central retina vessel tortuosity, swelling of retinal nerve fibers, circumpapillary telaniectatic microangiopathy

A

Leber herdiatary optic neuropathy (LHON)

MTND1, MTND4, MTND6

Targarted variants: G11778A, G3460A, T14484C

  • Complex 1 in ETC

Tx: avoid smoking, EtOh

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52
Q

Enlarged vestibular aqueduct, cochlear hypoplasia, goiter

A

Pendred

SLC26A4 (AR) - Chloride/iodide exchange channel

SNHL, temporal bone anomalies, vestibular anomalies

  • Most patients have goiter but euthyroid

Tx: Monitor thyroid, hearing aids

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53
Q

SNHL, RP, balance problems

A

Usher

MYO7A, USH2A (AR)

  • RPE and inner hair cells abnormal

Tx: Vit A, cochlear implants

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54
Q

SNHL, heterochromic idrides, dystrophic canthorum

A

Waardenburg

PAX3 (AD)

Clinical: NTD, white forlock, hirschsprungs

  • Calculate W index

Tx: Folic acid supplementation during pregnancy (NTD)

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55
Q

Episodic abd pain, neuropathy + Hepatocellular carcinoma

A

Acute intermittent porphyria

HMBS (AD)

  • No Skin findings
  • Urine changes color after oxidation

Tx: IV hemin, IV Destrose, Avoid triggers, liver transplant

Givosiran (Si RNA)

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56
Q

HB Bart

A

Loss of 4 alpha Thal alleles

  • Hydrops, severe hypochromic anemia, neonatal death
  • Tx: Intrauterine blood transfusions
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57
Q

HbH

A

Alpha Thal with 3 dysfunctional alleles

Microcytic hemolytic anemia, HSM, jaundice

Tx: splenectomy, transfusions

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58
Q

Alpha Thal Trait vs Carrier

A

Alpha Thal

HBA gene

Trait = 2 of 4 functional alleles; low MCV, high MCH

Carrier = 1 of 4 functional allele; no endophenotype

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59
Q

Beta Thal

A

HBB (beta subunit)

  • 2 null alleles = Major - severe anemia, HSM w/ FTT
  • Carrier - endophentoype
  • No symptoms at birth (fetal Hgb present)
  • Modified by a thal trait -> imbalance between alpha and beta subunit is the problem
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60
Q

prolonged PTT, decreased factor VIII activity

A

Hemophilia A

F8 (XL)

  • Inversion intron 22 = most common mutation type
  • 10-30% females have increasd bleeding risk

Tx: IV factor 8, avoid bleeding

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61
Q

Prolonged PTT, decreased Factor IX activity

A

Hemophilia B

F9 (XL)

  • FIV activates FVIII
  • 10-30% of females have <40% activity (increased bleeding risk)

Tx: recomobinant F IX concentrate

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62
Q

Cirrhosis, skin darkening, Diabetes, cardiomyopathy, hypogonadism, arthritis

A

Hemochromatosis

HFE (AR, low penetrance) - regulates iron absorption

C282Y homo or C282Y/H63D are most common genotypes

  • Iron saturation >60%(m) or 50%(f)

Tx: Phlebotomy if ferritin > 300 (m) or > 200 (f)

Goal ferritin <50, iron sat <50%

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63
Q

Recurrent infections, absent CD19 B cells

A

Bruton’s Agammaglobulinemia

BTK (XL)

  • lack of lymphoid tissue, low but measureable IgG levels

Tx: IV or SC IG injections

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64
Q

MEFV

A

Familial mediterranean fever

MEFV (AR) - Pyrin

Decreased IL1B activation -> increased IL1 response

Recurrent inflammation

Amyloidosis -> Renal failure

Tx: Colchicine

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65
Q

hypertelorism, brachydactyly, cryporchidism, ID, shawl scrotum

A

Aarskog

FGD1 (XL)

Rho-GTPase

Tx: orchiopexy

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66
Q

Cone-rod dystrophy, Obesity, delayed puberty, GU malformations, polydactyly

A

Bardet-Biedl

BBS1,BBS 10 (AR) - ciliopathy

  • Renal diases = major COD
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67
Q

ambiguous genetalia, craniosynostosis, choanal atresia, hydrocephalus, bowing of long bones

  • increased urinary progesterone metabolites
A

Antley Bixler

POR (NADPH-cytochrome P450 Reductase)

Lab: Abnormal steroids/sterols

Tx: steroids, surgery

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68
Q

Ear malformation, Branchil fistula, Renal hypoplasia

A

Branchio-Oto- Renal syndrome

EYA1, SIX1, SIX (AD) - developmental homeobox genes

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69
Q

Facial palsy, hearing loss, tracheal esophageal fistula, Cleft palate, interrupted aortic arch

A

CHARGE

CHD7 (AD)

Coloboma, Heart, Atresia (choanal), Retardation, Genitalurinary anomalies, Ear cahnges

+ CN palsy, TE fisula common

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70
Q

stimulus induced drop attacks, short/fleshy hands, small terminal phalanges, microcephaly, short stature

A

Coffin Lowry

RPS6KA3 (XL)

XRay - Anterior vertebrae beaking, metacarpal pseudoepiphyses

Tx: benzos for drop attacks, supportive

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71
Q

Hypoplastic middle phalax of index finger, hypoplastic thenar eminence, pulmonary valve stenosis, how anterior hairline, growth restriction

A

Cornelia De Lange

NIPBL, SMC1A, SMC3, HDAC8, RAD21 (most AD, de novo)

  • hearing loss, , dental problems, ID
  • Synophrys
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72
Q

5p deletion, abnormal laryngeal development

Found face, hypertelorism, epicanthal folds, low set ears

A

Cri-Du-Chat

5p15.2 del

Cat-like cry, ID, FTT, hpyotonia

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73
Q

Diaphragmatic hernia, olfactory tract atrophy, nail and phalages hypoplasia, coarse face

A

Fryns syndrome

unknown gene (AR)

Diaphgram + distal digit + dysmorphic face + multiple congenital malformations (heart, brain, GU)

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74
Q

macrocephaly, hypertelorism, polydactyly, hand and foot syndactyly (cutaneous), DD

A

Greig Cephalopolysyndactyly

GLI3 (AD) - SHH regulator

Macrocephaly + hypertelorism

Cutaneous syndactyly

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75
Q

Hypotonia, Developmental delay, central apnea, retinopathy, ocuolomotor apraxia

A

Joubert

NPHP1, AHI1, CEP290, TMEM67

  • Ciliopathy
  • Motor tooth sign
  • May have renal or liver disease
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76
Q

Short columella with depressed nasal tip, fetal fingertip pads, large/cupped ears, ITP

A

Kabuki

KMT2D (AD), KDM6A (XLD)

  • abnormal epigenetic control

+ eversion of lateral eyelids, ID, renal anomalies, CHD, joint laxity, anal atresia

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77
Q

What is the most common terminal deletion syndrome?

A

1p36

hypotonia, DD, FTT, microcephaly, cleft, CHD, seizures, SNHL

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78
Q

Which poly T tract is linked to DeltaF508?

A

9T

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79
Q

Which poly T tract, when associated with R117H, can contribute to classic CFTR

A

5T + R117H in cis -> classic CF

7T + R117H in cis -> nonclassic

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80
Q

Maternal UPD 15

A

Prader Willi

Deletion (70%), Mat UPD (30%), imprinting defect (1%)

  • Multiple paternally expressed genes in imprinted area
  • Hhypotonia, DD, hyperphagia -> Obesity, hypogonadism, small hands/feet

Tx: Monitor OSA, DM, osteopenia, feeding

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81
Q

broad thumbs/toes, ID, cryptorchidism, pilomatrixoma

A

Rubensteine Taybi

CREBBP, EP300 (AD) - histone acetyltransferase

+ Beaked nose

+ sleep apnea, tumors (meningioma, pilomatrixoma, leukemia)

Tx: vision, hearing, heart monitoring

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82
Q

self injury, stereotypies, upper body squeeze, brachydactyly, sleep disturbance, Ftt -> Obesity

A

Smith Magenis

RAI1 (AD), 17p11 del

+ infantile hypotonia, neuropathy, facial features worsen over time

Tx: Sensory integration, behavioral, melatonin, anntual Thyroid/lipid monitoring

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83
Q

3/4 finger syndactyly, holoprosencephaly, 99% early miscarriage, 10% of all spont. abortions

A

Triploidy

If maternal: Small placenta, IUGR w/ MACROcephaly

If paternal: large placenta, good size w/ MICROcephaly

Serum hCG low

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84
Q

Midline cleft, holoprosencephaly, omphalocele, polydactyly

A

Trisomy 13

75% maternal nondysjunction, 20% due to translocation, 5% mosiac

+ cutis aplasia

44% die in first month, 70% in 1 year

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85
Q

Microophthalmia, Clenched hands with overlapping fingers 2/3 and 5/4, renal anomalies

A

Trisomy 18 (edwards)

90% mat nondj, 10% mosaic, 1% translocation

Triple screen: Low AFP, hCG, and UE3

+ IUGR, rocker bottomed feet, micrognathia, CHD

50% in 1 week, 90% 1 year

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86
Q

Hypotonia, myopia, hearing loss, macroglossia, hypotonia, hirschsprung, duodenal atresia

A

Down syndrome

90% mat nondysjunction (3/4 M1, 1/4M2), 5% robertsonian

+ upslanting PF, single creases, sandlegap toes

  • ALL, alzheimers, CHD, thyroid disease
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87
Q

Tracheoesophageal fistula, esophageal atresia, limb abnormalities, TOF, vereberal abnormaltlities, anal atresia

A

VACTERL

Unknown gene

Vertebral, Anal, Cardiac, TEF, Esophageal atresia, Renal, Limb

  • Variant has hydrocephalus
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88
Q

Broad bridge of nose continuing into forehead, short philtrum, downturned mouth, growth deficiency, igA deficiency, atypical absense seizures

A

Wolf Hirschorn

4pdel (WHSC1, and WHSC2) - 87% de novo, 13% translocation

  • greek warrior helmet face, ID, facial assymetry, CL/P, structural brain anomalies
  • Check IgA levels, EEG, MRI brain
  • Seizures respond to VPA
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89
Q

VLCFA high, leukodystrophy

A

XALD

ABCD1 (transporter)

Childhood: ADHD -> disability in 2 yrs

Adulthood: AMN

Addison’s

Carrier females -> 20% get spasticity with normal adrenal function

Tx: BMT, lorenzo’s oil

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90
Q

Most common genes for AD Alzheimer’s

A

PSEN1, APP, PSEN

Account for ~5% of all Alzheimers

  • APP is on ch 21
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91
Q

Acquired microcephaly, ataxia, DD, happy demeanor, seizures

Face: Prognathia, light hair/eye, wide mouth with protruding tongue

A

Angelman

Maternal 15q11 del (70%), mat UBE3A mutation (10%), Imprinting defect (3%), paternal UPD

Testing: DNA methylation analysis defects deletion, imprinting, and pat UPD (80%), sequencing as second line

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92
Q

Electron dense grandules in tunica media of arterioles. FHx of classic migraines

A

CADASIL

NOTCH3 (AD)

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93
Q

Macrocephaly, hypotonia, leukodystrophy, NAA peak

A

CANAVAN

ASPA

  • N-acetylaspartate buildup -> demyelination
  • Life expectancy teens
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94
Q

Hypotonia, decreased taste w/ smooth tongue, decreased reflexes, absent tears, pain insensitivity

A

Familial Dysautonomia

IKBKAP (AR) - ashkenazi jewish disease

  • Abnormal sensory and autonomic nerve development
  • 40% have autonomi crisis
  • Progressive GI dysmotility

Recurrent pneumonia

Tx: Protect eye, PT/OT, BP management

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95
Q

Prominent forehead and jaw, long face, large ears, ID

A

Fragile X

FMR1 - CGG repeat

56-200 - premutation, 200+ = full mutation

Carriers: premature ovariant failure (F), ataxia/tremor

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96
Q

Movement disorder, psychiatric symptoms, cognitive decline

A

Huntingtons

CAG repeat

10-25: normal

26-35: at risk for expansion (especially if paternally inherited)

36-39: reduced penetrance

40-59: classic

60+: Juvenile HD

97
Q

Classic: Elevated CSF protein, extreme Irritability, hypertonia, neuropathy, leukodystrophy

Late Onset: vision loss, cognitive decline, weakness

A

Krabbe

GLAC (galactocerebrosidase)

Tx: HSCT early on

98
Q

Ras GTPase LOF -> AD disorder

A

NF1

Diagnostic criteria (need 2):

6x5mm (pre puberty) or 15mm (post puberty CAL spots

2+ neurofibromas

Plexiform neurofibroma

Axillary/inguinal freckling

Optic glioma

2+ lisch nodules

Sphenoid dysplasia or tibial pseudoarthrosis

1st degree relative

Tx: Selumetinib for plexiform NF (MAPK inhibitor)

99
Q

What’s the treatment for NF1

A

MAPK (MEK) inhibitor: Selumetinib

100
Q

Juvenile onset (20-40) parkinson’s disease main gene

A

PARK2 - Parkin (AR)

101
Q

ID, Regression, acquired microcephaly, stereotyped hand movements, bruxism

A

Rett

MECP2 (XL) - bings methylated CpG islands

  • Small subset due to CDKL5 mutations
  • Some have long QT
102
Q

Liver disease + movement do

A

Wilson diasese

ATP7B (AR) - Copper transporter

  • Impaired holoceruloplasmin synthesis -> decreased biliary copper excretion

+ Kaiser fletcher rings

  • Low Copper and ceruloplasmin in serum, increased urinary excretion and liver storage
104
Q

What is the pathogenesis of SOD1 ALS

A

Toxic gain of function

105
Q

What are the 4 types of CMT

A

1) AD, demyelinating
2) AD, axonal
3) AD, both
4) XL

106
Q

What are the mildest phenotypes for DMD/BMD

A

Asymptomatic elevated CK or cramps/myoglobinuria

107
Q

What the the Friedreich ataxia repeat cutoffs, where is the expansion?

A

FRDA

GAA repeat

Intron 1

Normal: 5-33

Premutation 34-65

Disease 66-1700

108
Q

Focal nerve enlargement on biopsy, recurrent multifocal demylinating mononeuropathy

A

HNPP

PMP22 deletion

109
Q

PMP22 syndromes

A

Deletion: HNPP

Duplication: CMT

Both can have specific missense

110
Q

Sarcoglycan, Dysferlin, Calpain, Lamin

A

Limb Girdle Muscular Dystrophy

  • CAPN3, FKRP, LMNA, SGCA, SGCB, SGCG, DYSF
  • High CPK
111
Q

Cataracts, gynecomastia, frontal balding, termporal wasting, ptosis, arrhythmia

CK high

A

Myotonic dystrophy type 1

3’UTR CTG repeat expansion (DMPK) -> splice-opthaly

+ arrhythmia

112
Q

Myotonic dystrophy type 1 repeat exapnsion cutoffs

A

DMPK gene

CTG - 3’UTR

Normal: 5-34

Premutation: 35-49

Mild: 50-150

Classic: 151-1000

Congenital: 1000+

113
Q

Myotonic dystrophy type II repeat expansion and cutoffs

A

CNBP gene

Intron 1 CCTG repeats

Normal: <30

Premutation: 27-54

Path: 55-11000

114
Q

Rod like inclusions in muscle biopsy

A

Nemaline myopathy

ACTA1, NEB, TNNT1, TPM2, etc

115
Q

What is the modifier for SMA

A

SMN2

0 copies = lethal.

1-2 copies = neontal onset

3 copies = 6mo to 2 yr onset

4-8 copies = childhood onset

  • 4% of pop have 2 copies of SMN1 in cis -> they are carriers
116
Q

FCMD, POMGNT1, POMT1, POMT2, MDC1D

A

Congetnial muscular dystrophies

Fukutin, POMT (Protein O-mannosidase acetylglucosaminyltransferase)

  • O like CDG -> disrupt alpha-dystroglycan

Myopathy

ophthalmologic issues

CNS malformations

117
Q

Cherry red spot, vision issues, neurodegeneration, macrocephaly

15q23

A

Tay Sachs

HEXA

GM2 gangliosidosis

118
Q

What are the main cancers in BRCA1 and 2?

A

Breast and ovarian (BRCA1 >2)

+ Pancreatic cancer, prostate cancer, and male breast cancer (BRCA 2 > 1)

119
Q

Colon cancer + desmoid tumor, jaw osteoma, malformed teeth, epidermoid cyst

A

Familial Adenomatous Polyposis

APC - B-catenin proteosome degradation

  • Also has hepatoblastoma, thyroid ca

Gardner = + soft tissue tumors and osteomas

Turcot = + CNS tumors (Medulloblastoma)

Tx: colectomy, start screening in 20s unless attenuated

120
Q

Cancers: Colon, stomach, intestine, hepatobiliary, endometrial, urinary, CNS

A

Lynch syndrome

MLH1, MSH2, MSH6, PMS2 (mismatch repair)

  • Microsatelite instability

Tx: colonoscopy every 1-2 years starting at age 20

121
Q

choriod plexus carcinoma, adrenocortico carcinoma, relative with cancer <45, sarcoma, breast cancer, neuroblastoma

A

Li Frameni

TP53 (AD)

Screening: MRI Brain, body, breast, abd

122
Q

Ca: pitruitary, parathyroid, pancreas

+ angiofibroma, collagnoma, lipoma

A

MEN 1

MEN1 gene (Menin) - tumor suppressor

Monitoring:

5yo: MRI brain, prolactin

8-10yo - calcium level, pancreatic peptide

20yo: Gastrin, abd CT/MRI

123
Q

Medullary thyroid carcinoma, pheochromocytoma, parathyroid adenoma

A

MEN2

RET (proto-onco tyrosine kinase)

MEN2A (exon 10,11) : thyroid, pheo, parathyroid

MEN2B (exon 16): + mucosal neuromas, marfanoid habitus

Tx: thyroidectomy by age 1 for MEN2B, 5 for MEN2A

screening with cholecholamines, calcitomin, PTH at 8

124
Q

Hearing loss, tinnitus, balance problems, cataracts, neuropathy, meningioma

A

NF2

Neurofibromin 2 (merlin) - tumor suppressor

Acoustic schwannomas bilaterally + meningioma, ependymoma, astrocytoma

125
Q

What does PTEN do?

A

Phosphatidylinositol 3,4,5, triphosphate 3 phosphatase

  • Downregulates PI3K/AKT pathway -> regulator of G1 arrest/apoptosis

Cowden + BRR syndrome

  • macrocephaly, lipomas, freckled penis, mucocutenous papules (gingival cobblestoning)
  • breast/endometrial/thyroid/GI cancer
126
Q

What proportion of TSC is de novo?

127
Q

Giant cell astrocytoma, lymphangiomatosis, hypomelanotic macules, rhabdomyoma

A

Tuberous sclerosis complex

TSC1 and TSC2

  • TSC2 and Polycystic kidney disease can be part of 16p13del syndrome
128
Q

Endolymphatic sac tumor, tumor suppressor gene

A

VHL

Hemangioblastoma, Pheochromocytoma, RCC

129
Q

Progressive microcephaly, hearing loss, cognitive impairment + sun sensitivity, skin/eye cancers

A

Xeroderma Pigmentosum

XPA, XPC, ERCC2, POLH

Nucleotide excision repair - repairs UV damage

130
Q

Neonatal hypoglycemia, nevus flammeus, adrenocortical cytomegaly, hemihyperplasia, visceromegaly, ear pits

A

Beckwith-Wiedemann

CDKN1C, H19, KCNQ1OT1

CDKN1C (40%), Pat UPD 11p15 (15%), Loss of methylation in ICR2, gain of methylation at ICR1, 11p15del

Monitor w/ abd US q3 months until 8yo for wilms

  • serum AFP for hepatoblastoma
131
Q

5q35 microdeletion

Tall stature, macrocephaly, pointed chin, developmental delay

+ saccrococcygeal teratoma and neuroblastoma

A

Sotos syndrome

NSD1 - histone lysine N methyltransferase

Overgrowth + dolichodephaly/pointed chin

  • Japanese, often microdeletion of 5q35

Text: MLPA or FISH for deletion, sequening NSD1

132
Q

DNA single strand break repair pathway.

APTX, SETX

A

Atraxia with Oculomotor Apraxia

AR

progressive ataxia, oculomotor ataxia -> ophthalmoplegia, axonal motor neuropathy

133
Q

Leukodystrophy, RP, cataracts, neuropathy, postnatal FTT, hypogonadism, sunken eyes, photosensitivity

Abnormal DNA repair

A

Cockayne

ERCC6, ERCC8 - Transcription coupled repair

+ progeriod appearance

134
Q

Normal at birth -> FTT, relative macrocephaly, narrow nasal ride and nose tip, micrognathia

Loss of subcutaneous fat, delayed teeth, alopecia, coxa valga (increased angle of femoral neck and shaft)

A

Hutchinson Gilford Progeria

LMNA (c. 1824 C>T, p. G608G) -> abnormal splicing

AD, All de novo

  • severe atherosclerosis w/ MI or stroke, average death at 15
135
Q

Kids: Jaundice, elevated LFTs

Adult: COPD (40s if smoker, 60s if not), Cirrhosis

Mechanism: losss of protease inhibition

A

Alpha 1 Antitrypsin

Serpina1 (AR)

  • Cam measure plasma AAT levels or by protease inhibitor typing
  • Tx: liver transplant, IV Augmentation
136
Q

Meconium ileus, malabsorption, azoospermia, chronic respiratory infections

A

Cystric fibrosis

CFTR

  • convenital bilateral absense of vas deferens can occur as “atypical” phenotype

DeltaF508 = common mutation in caucasiaons

137
Q

Anterior lenticonus, progressive nephropathy and hearing loss, corneal erosion

A

Alport syndrome

COL4A5 (80% XL) COL4A3, 4A4 (15% AR and 5% AD)

  • Basement membrane
  • Kidney (first involved) and hearing (usually teenage years) + eyes

Anterior lenticonus = conical protrusion of central lense surface

138
Q

16p13 deletion

A

TSC and Polycystic kidney disease

139
Q

Renal, liver, pancreas, intestine cysts

A

PKD

PKD1, PKD2, PKHD1 (AR)

Polycystin1, polycystin2, fibrocystin

  • Also associated with valvular disease and aneurysms

Recessive form: oligohydramnios, impaired lung formation, renal failure, liver failure -> early death

PKD1 can be deleted with TSC in 16p13

140
Q

FGFR3 G1138A

Notch like sacraliliac groove

A

Achondroplasia

p. G380R
- Constitutive activation

Trident hand, rhizomelia, short stature, fontal bossing, midface hypoplasia

  • OSA, cord compression
141
Q

Wormian bones, open sutures, poor sinus pneumatization, hypoplastic scapulae, pseudoepiphysis, deformed middle phalanges

Runt-related transcription factor

A

Cleidocranial dysplasia

RUNX2 (AD, mostly de novo)

hypoplastic clavicles + large skull defects

Hearing loss, recurrent otitis media

142
Q

hitchhiker thumb, short limb, cystic ear swelling, ulnar deviation of fingers, clubfoot - inward/upward turning of foot

XR: coronal clefting of thoracic and lumbar vertebra

A

Diastrophic dysplasia

SLC26A2 -> Sulfate transporter (AR)

(Diastrophic = twisted)

Hitchhiker’s thumb = twisted forearm/hand

Club foot w/ inward/upward tur = twisted metatarsals

  • normal skull/intellect
143
Q

FGFR1 craniosynostosis

A

<5% of Pfeiffer

144
Q

FGFR2 craniosynostosis

A

Apert (S252W and P253R)

Crouzon

Pfeiffer

145
Q

FGFR3 craniosynostosis

A

Crouzon with acanthosis nigricans (A391E)

Muenke (P250R)

146
Q

What are common features of FGFR craniosynostosis?

A

Midface retrusion and proptosis

Hearing loss

airway obstruction

Brachydactyly (not Apert or Crouzon)

Hydrocephalus and chiari I (not Crouson)

ID (not Crouzon)

147
Q

Coronal craniosynostosis, cleft palate, dental anomalies, syndactyly/polydactyly with nail dystrophy, hyperhidrosis

A

Apert syndrome

FGFR2 S252W or P253R

+ midface retrusion and proptosis, hearing loss, airway issues

+ ID, chiari

+ acne, C5C6 fushion

148
Q

Craniosynostosis, C2C3 vertebral fushion, normal intellect and limbs

A

Crouzon

FGFR2

+ midface retrusion and proptosis, Hearing loss, airway

+ hydrocephalus, chiari 1

149
Q

Craniosynostosis, hearing loss, acanthosis nigricans

A

Crouzon with acanthosis nigricans

FGFR3 A391E

+Midface retrusion and proptosis, airway

+ hydrocephalus, chiari 1

150
Q

craniosynostosis, Carpal and tarsal fushion, ADHD, Seizure

A

Muenke

FGFR3 (P250R)

+ midface retrusion and proptosis, SNHL

+ brachydactyly

+DD

151
Q

Craniosynostosis, cloverleaf skull, board and medially deviated thumb/hallaces, fushions at elbows/knees, sacral appendages

A

Pfeiffer Syndrome

FGFR2 (95%), FGFR1 (5%)

+ midface retrusion and proptosis, hearing loss, airway obstruction, brachydactyly

+ hydrocephalus, chiari I, ID

152
Q

Exostosis, limb length inequality, bowing of long bones

A

Hereditary multiple osteochondromas

EXT1, EXT2 (AD, 10% de novo)

  • multiple benign cartilage capped bony growths from growth plate (long bones) or scapula
153
Q

FGFR3 c.1620c>a, c>g

N540K

A

Hypochondroplasia

If not common mutation order sequencing

MIlder version of achondroplasia, no trident hands

154
Q

Atraumatic fractures, ligament laxity, easy bruising, “frog leg” hips

A

Osteogenesis imperfecta

COL1A1 and COl1A2 (AD)

+ blue sclera

  • Stop codon less severe than missense

Tx: Bisphosphontases decrease bone resorption, GH increase linear bone growth

155
Q

craniosynostosis, small pinna with prominent crus, strabismus, ptosis, facial assymetry

A

Saethre-Chotzen

TWIST1 (AD)

+2/3 hand syndactyly, DD in some, vertebral fushions, maxillary hypoplasia

+ Short stature, OSA, increased ICP, CHD

Tx: Endo eval, surgical, monitor ICP with eye exam

156
Q

FGFR3 disorders

A

Thanatophoric dysplasia - Arg248Cys, Tyr373Cys, Lys650Glu

Muenke - c.749C>G, Pro250Arg

Achondroplasia - c.1138G>A, Gly380Arg

Crouzon with acanthosis nigricans - Ala391Glu

Hypochondroplasia - c.1620C>A, Asn540Lys

SADDAN (severe achondroplasia w/ DD and acanthosis nigricans) - Lys650Met

157
Q

Immune deficiency and CHD

158
Q

XL brugada syndrome

A

KCNE5

(SCN5A is most common AD)

159
Q

nocturnal agonal breathing, ST abnormalities in V1-V3

A

Brugada syndrome

SCN5A-AD

KCNE5-XL

160
Q

BRAF, KRAS, MAPK1, MAPK2

A

CFC syndrome

161
Q

Most common cancer in CFC syndrome

162
Q

Most common mode of inheritance for CFC

A

AD de novo

163
Q

Costello gene

164
Q

Cancers associated with Costello

A

Bladder

Rhabdomyosarcoma

Neuroblastoma

165
Q

most penetrant finding in Holt Oram

A

Carpal bone anomaly

TBX5

166
Q

Endocrine anomalies in williams syndrome

A

7q11, ELN

Hypercalcemia, hypothyroidism

167
Q

Most common cancers in ATM

A

Patients: Leukemia + lymphoma

Carriers: Breast, colon, pancreas

168
Q

Treatement for fanconi anemia

A

Androgens -> help with marror failure

169
Q

highest mobidity cancer in Fanconi

A

Oral squamous cell carcinoma

170
Q

SMAD3

A

Loeys Dietz

TGFB genes + SMAD3

171
Q

Velvety/translucent Skin

A

Loeys Dietz type 2 and EDS IV (vascular)

172
Q

What drug to avoid in LDS?

A

Calcium channel blockers

173
Q

Cauliflower deformity in electron microscopy

A

EDS classic

  • COL5A1
174
Q

Aged appearance of hands (acrogyria), large eyes, small chins

A

Vascular EDS

COL3

175
Q

Globe rupture

A

Kyphoscoliotic EDS

PLOD1

176
Q

Organs aside from skin involved in Incontinentia pigmenti

A

CNS, Eye + Skin/Teeth/Hair

177
Q

GPR143

A

XL Ocular albinism (no skin changes)

178
Q

NROB1 deletions

A

XL adrenal hypoplasia congenita

Continuous with Glycerol Kinase and DMD

  • 100% deletions
179
Q

CYP21A2

A

CAH

  • high 17OHP
180
Q

Treatment for CAIS

A

Take out testicles and give estrogen

AR gene

181
Q

What proteins are missing in Kallman syndrome types 1 and 2?

A

Type 1 - KAL1 -anosmin

Type 2 - FGFR2

182
Q

bimanual synkinesis and mirror movements

A

Kallman type 1

  • also ataxia, GU anomaly, pes cavus

Type 2 (FGFR1) + hearing loss, CL/P

183
Q

What conditions are klinefelter patients more at risk for?

A
  • Autoimmune disorders (females are increased risk vs males)
  • Mediastinal germ cell tumors
  • Male Breast cancer (+gynecomastia)
184
Q

Endo anomlaies in mccune albright

A

high GH (precocious puberty), prolactin, and parathyroid hormone

+ hyperthyoridism

185
Q

CAL, fibrous dysplasia

A

Mcune Albright

GNAS GOF

186
Q

Mechnaism of transient neonatal diabetes

A

Overexpression of paternally active genes (HYMAI, PLGL)

  • UPD6 pat
187
Q

4 clinical tests for turner syndrome

A

TSH, GH, echo, renal US

188
Q

What diseases do GJB2 cause?

A

Hearing loss and KID (Keratosis, Ichthyosis, deafness) syndrome

  • both AD
189
Q

What diseases do GJB6 cause?

A

Hearing loss or hydrotic ectodermal dysplasia

both can be AD

190
Q

Absent platelet dense bodies

A

hermansky pudluck syndrome

  • Pale bleeding puerto rican

+ colitis, pulmonary fibrosis, skin cancer

191
Q

KCNQ1, KCNE1

A

Long QT, hearing loss (Jervell and lange nielsen syndrome)

Carriers have long QT - romano ward

192
Q

Genes for LHON

A

MTND1, MTND4, MTND6

  • complex I
193
Q

hearing loss and goiter

A

Pendred

SLC26A4

  • 10% abnormal thyroid function tests
194
Q

Dilated vestibular aqueduct with cochlear hypoplasia

A

Mondini malformation

Pendred

SLC26A4

195
Q

PAX3 vs PAX6

A

PAX3 = wardenburg

PAX6 = aniridia

196
Q

SIX3 vs SIX5

A

SIX3 = Holoprosencephaly

SIX5 = Branchio oto renal

197
Q

PAX3

MITF

SOX10

A

Waardenburg

PAX3 - type 1 and 3 (+ limb hypoplasia, syndactyly)

MITF - type 2 - no dysrophia canthorum

SOX10 - type 4 (hirschprung)

Pass the mitten, pass the socks

198
Q

What is the gene for piebaldism?

A

White forelock + patches of albinism

c-KIT - melanocyte migration defect

199
Q

Treatment for AIP attacks

A

IV hemin, IV Dextrose

200
Q

70% HbF, 30% HbA

A

Beta Thal minor

201
Q

90% HbF in adulthood

A

B Thal Major

202
Q

Prolonged PT or PTT in hemophilia?

A

PTT (intrinsic)

203
Q

Treatment goal for hemochromatosis

A

ferritin <50 and Iron sat <50%

204
Q

Low CD19 cells

A

CD19 = b cells

BTK - XL bruton’s agammaglobinuria

205
Q

First line treatment for MEFV

A

Familial Mediterranean Fever

Cholchicine

206
Q

Aarskog mode of inheritance

207
Q

Management of Aarskog

A

Orchiplexy

208
Q

high lanosterol, dihytrolanosterol, pregnenolone and progesterone

A

Antley Bixler

POR

209
Q

Major cause of morbidity/mortality in ciliopathies

A

Renal disease

210
Q

What test do coffin lowry patients need every 5-10 years

A

Echo -> uncertain onset cardiomyopathy

211
Q

SMC1L1

212
Q

Heard defects in CDLS

A

Pulmonary valve stenosis and VSD

213
Q

2 syndromes with GLI3

A

Pallister Hall (endo hamartoma, anal, polydactyly) - Frameshift in middle third of gene

Greig cephalopolysyndactyly - deletions/missense/early frameshift

214
Q

In joubert syndrome with retinal changes, what other organ is affected?

A

Renal is seen in those with retina involvement

215
Q

XL kabuki syndrome

216
Q

Coarctation, ITP, immunodeficiency, fused kidneys, fetal finger pads

A

Kabuki

KMT2D (AD)

KDM6A (XL)

217
Q

17p11.2 vs 17p12

A

17p12 - CMT/HNPP

17p11.2 - Smith-Magenis/Potocki-Lupski

218
Q

Lab monitoring for Smith Magenis

A

Lipid profile (hypercholesterol)

TFT

219
Q

Immune abnormality in wolf hirschorn

A

IgA deficiency

220
Q

Common variant for MEN1

221
Q

everiolimus

A

mTOR inhibitor for TSC (progressive angiomyolipoma)

222
Q

What does GLI3 do?

A

Zinc finger transcription factor -> Downstream of SHH

Greig cephalopolysyndactyly

Pallister Hall (hypothalmaic hamartoblastoma)

223
Q

Absent platelet dense bodies on EM

A

HPS

  • look for pulmonary fibrosis
224
Q

mechanism of disease in FAP

A

decreased APC (TSG) -> activation of oncogenes c-MYC and cyclin D1

225
Q

most common ca in LFS

A

Breast (especially before age 31)

226
Q

what is the function of MEN1

A

Tumor supressor

227
Q

surveillance for MEN1

A

MRI and prolactin at 5, endo tests at 8-10

228
Q

function of RET

A

protooncogene - tyrosine kinase receptor

229
Q

RET exon 16 mutation

A

MEN2B

(Exon 10/11 for MEN2A)

230
Q

Surveillance in PTEN

A

Thyroid at 15

Breast at 30

Colon/ovarian at 35

231
Q

Pulmonary lyphangiomatosis

A

TSC2 - usually in females

232
Q

VHL screening

A

Ophtho exam and metanephrines at 5

15 - abd U/S and MRI

233
Q

most common causes of BWS and RSS

A

BWS: Hypomethylation of maternal IC2

RSS: Hypomethylation of paternal IC1

234
Q

DNA single strand break repair

A

APTX, SETX

Ataxia with oculomotor apraxia

+ high cholesterol, low albumin, high AFP

235
Q

RUNX2

A

Wnt signaling pathway, downstream of SMAD4 and NOTCH/JAG

236
Q

lack of sulfated proteoglycans in cartilage matrix

A

Diastrophic dysplasia

SLC26A2 sulfate transporter

237
Q

FGFR1 craniosynostosis

A

Pfeiffer (cloverleaf, board medially deviated thumbs/big toes)

  • also FGFR2
238
Q

100% penetrant finding in alagille

A

Paucity of bile duct + cholestasis

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