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COMLEX/USMLE 1 > DOMINANCE PATTERNS > Flashcards

DOMINANCE PATTERNS Flashcards

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USMLE® Step 1 flashcards
1
Q

Gaucher’s disease

A

AR

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2
Q

NF type I

A

AD

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3
Q

Rett syndrome

A

X linked dominant

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4
Q

Marfan

A

AD

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5
Q

myoclonic epilepsy with red ragged fibers

A

Mitochondiral

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6
Q

Gilbert’s

A

AR

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7
Q

AD diseases: (18)
“Very Powerful Dominant Humans”

AD: HANNAAAHHHH MVMT POV

A

-VWF
-VHL
-Pseudohypoparathyroidism
-MyoTonic DysTrophia
-Osteogenesis Imperfecta
-Hereditary Hemorrhagic Telangiectasia
-Marfan
-Acute intermittent porphyria
-NF 1/2
-Achondroplasia
-Androgenic Alopecia
-Adult Polycystic Kidney Dz
-Noonan’s Syndrome
-Tuberous Sclerosis
-Hypercholesterolemia
-Huntington’s
-Hereditary Spherocytosis
-Hypertrophic Obstructive Cardiomyopathy

***MEN, FAP,

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8
Q

VWF
dec VWF/defect in platelet plug formation

A

AD

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9
Q

-each generation affected
-at least one parent of affected person has trait
-males ~ females
-“variable expressivity”

A

AD diseases

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10
Q

Inc BT, inc/normal PTT, normal PT
-defect in platelet plug formation/dec vwf
TX: desmospressin (ADH) analog, releases VWF from weibel palace bodies in endothelium

DX?
DZ?
Dominance?

A

Von Willebrand (VWF) disease
DX -abnormal Ristocetin Test- Ristocetin induces platelet agglutination by causing VWF to bind to GP1B
Dominance: AD pattern

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11
Q

Von Hippel Lindau disease

A

AD pattern

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12
Q

-hemangioblastomas of retina/cerebellum/medulla, bilateral renal cell carcinoma
-deletion of VHL gene (tumor suppressor) on chromosome 3
-loss of VHL gene leads to INCREASE in IGF-1 (promotes growth), and INC HIF transcription factor (inc VEGF and PDGF)

A

Von Hippel Lindau disease
(3 words, chromosome 3) of tumor suppressor–> so deletion of the VHL gene will lead to a bunch of tumors

AD pattern

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13
Q

-end organ resistance to parathyroid hormone
-“Knuckle knuckle dimple dimple”
Mechanism: G PROTEIN DEFECT
LABS: INCREASED PTH levels, HYPOCALCEMIA

(turners syndrome: knuckle knuckle dimple knuckle)

A

Pseudohypoparathyroidism
AD pattern

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14
Q

myotonia, cataracts, cardiac arrythmyias, temporal balding, “droopy face”

*UNSTABLE CTG trinucleotide REPEAT in in DMPK gene on chrom 19 or CNBP mutation on chrom 3 (type 2)
*shows anticipation

A

“T’s in MyoTonic DysTrophy”

Myotonic Dystrophy
AD pattern

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15
Q

*dont get confused with child abuse
-MC form is Type 1
-Multiple fractures, blue sclera, hearing loss, dental probs
-TYPE 1 COLLAGEN DEFECT

A

Osteogenesis Imperfecta
AD pattern

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16
Q

telangiectasia, recurrent epistaxis, skin discolorations, AV malformations (mainly mouth and GI)
mechanism: not clear
*shows anticipation

A

Osler Weber Rendu
(Hereditary Hemorrhagic Telangiectasia)
AD pattern

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17
Q

Long arms, pectus excavatum, hyper extensive joints, aortic incompetence, dissecting aortic aneurysm, upward subluxation of lens, MVP

*FIBRILLIN 1 GENE MUTATION, connective tissue disorder affecting skeleton, heart, eyes

A

Marfans
AD pattern

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18
Q

Porphobilinogen deaminase deficiency
pain in abdomen
**RED WINE COLORED URINE

TX: glucose/heme which inhibit ALA synthase

A

Acute intermittent porphyria
AD pattern

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19
Q

cafe au lait, lisch nodules,
NF1 defect on long arm of chromosome 17

A

NF type 1 (17 letters in this, chromosome 17)
AD pattern

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20
Q

Bilateral acoustic schwannomas,
NF2 defect on chromosome 22

A

NF type 2 (2’s go together, chromosome 22)
AD pattern

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21
Q

short limbs, but head and trunk are NORMAL SIZE.
A/W advanced paternal age, results in dwarfism
-defect of FGF, over expression of FGFR3= inhibits growth

types of bone:
-endochondral (cartilage matrix turns into bone–> how long bones are made) affected***

-intramembranous- (bone forms without preexisting cartilage matrix, flat bones) NOT AFFECTED HERE***

A

Achondroplasia
AD pattern

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22
Q

MC baldness in men and women
AD pattern

A

Androgenic Alopecia

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23
Q

always bilateral
hypertension (from INCREASING renin)
hematuria
**ASSOCIATED WITH Polycystic liver disease (MCC extra renal association-liver cysts)
**Berry aneurysms (MCC death)
MVP

**majority are due to PKD1 MUTATION ON CHROMOSOME 16

A

Adult Polycystic Kidney Disease
AD pattern

*polycystic kidney is 16 letters, PKD1 on ch 16

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24
Q

Male version of turners syndrome

A

Noonan syndrome
AD w/ variable expression

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25
Q

facial lesions
HYPOPIGMENTED ASH LEAF SPOTS ON SKIN
corical/retinal hematomas
seizures, retard, renal cysts
renal angiomyolipomas, cardiac rhabdomyomas, increase incidence of astrocytomas

INcomplete penetrance, variable expression

A

Tuberous sclerosis
AD pattern

**kid with seizures with ash leaf spots–> think tuberous sclerosis

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26
Q

xanthomas (tendons, classically achilles)
MI develops BEFORE AGE 20–> die
**HIGH LDL CHOLEST, TOTAL CHOL BUT NORMAL TRIGLYCERIDES

*ELEVATED LDL DUE TO DEFECT OR ABSENT LDL RECEPTOR
*if homozyotic= 700+

A

Hypercholesterolemia
AD pattern

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27
Q

depression, progressive dementia,
choreiform movements,
CAUDATE ATROPHY,
decrease levels of GABA and Ach in the brain
Associated with anticipation

***CAG trinucleotide repeat, chromosome 4

A

Huntington’s disease
(hunt has 4 letters, CAG)

AD pattern

**flailing arms, jerky choreiform movement

28
Q

hemolytic anemia
splenomegaly
jaundice with UNCONJUG bilirubin

**INCREASE MCHC
**spectrin/ankyrin defect
-spherocytes cant navigate thru spleen and are eaten by macrophages
TX: SPLENECTOMY

A

Hereditary Spherocytosis
AD pattern

(giant circles purple)

29
Q

SOB, but most are asymptomatic, sudden death
**mainly a DIASTOLIC problem, defect in SACROMERE proteins
**ECHO IS GOLD STAND DX

A

Hypertrophic Obstructive Cardiomyopathy
AD pattern

(large red heart)

**sacromere defect, sudden death in athletes

30
Q

-most ENZYME deficiencies follow this pattern
-disease is in homozygotes
-more UNIFORM expression than AD
-Complete penetrance
-Onset is Early in life
-Proteins show LOSS OF FUNCTION
-Much more common than AD

A

Autosomal recessive
“Skips a generation”

31
Q

Autosomal Recessive (14)

A

-Albinism
-ARPKD
-Beta Thalassemia
-Cystic fibrosis
-Deafness
-Emphysema
-Friedrich’s Ataxia
-Gaucher’s
-Galactosenmia
-Glycogen storage DZ =
-von gierke-(severe hypoglycemia)
-pompe (cardiomegaly)
-Cori
-Anderson
-McArdle (m for muscle- musclecramps)
-Hers (H for hepatic-hepatomegaly)
-Hemochromatosis
-Mucopolysaccharides/hurlers (except hunter-XR)
-Lysosomal storage diseases (except Fabry’s)
-PKU
**SCD, gilbert, crig

32
Q

deficiency in TYROSINASE
impairs MELANIN production
at risk from UVB

Variable inheritance due to locus heterogeneity

A

Albinism
AR pattern

33
Q

*Associated with congenital hepatic fibrosis
*renal failure in utero can lead to POTTER’S
*HTN

A

ARPKD
AR pattern

34
Q

anemia due to decreased synthesis of GLOBIN CHAINS
-Hgb= heme + globin (thalassemia)

**TARGET CELLS

A

BETA thalassemia (target cells)
AR pattern

**(Heme= Fe + Protoporphyrin (sideroblastic))

35
Q

salty taste on skin
thick VICOUS mucus
dec absorption of vitamins/enzymes

A

cystic fibrosis
AR pattern

36
Q

deafness

A

AR pattern

37
Q

Alpha 1 antitrypsin deficiency
Loss of elastic recoil

A

emphysema
AR pattern

38
Q

degenerative disorder of cerebellum and spinal cord
loss of cerebellum gives ataxia
loss of multiple spinal cord tracts lose vibratory sense and DTR’s

**DUE TO EXPANSION OF UNSTABLE TRINUCLEOTIDE REPEAT GAA IN FRATAXIN GENE
**frataxin is essential for mitochondrial iron regulation
(loss results in iron buildup - free radical)

***ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY

A

Friedreich’s ataxia
AR pattern

(GAA frataxin gene mutation)

39
Q

Gaucher’s (big stomach pic)

A

AR pattern

40
Q

body is unable to process galactose (sugar present in milk)

*builds up in liver damage, brain damage, cataracts, jaundice

A

Galactosenmia
AR pattern

41
Q

Glycogen storage diseases

A

1= Von Gierke (Glucose 6 phosphatase)
2= Pompe (a1, 4- glucosidase)- cardiomegaly
3= Cori (Glycogen debranching)
4= Anderson (branching enzyme)
5= McArdle (muscle glycogen phosphorylase)
6= Hers (hepatic glycogen phosphorylase)

42
Q

Brown skin
Hemochromatosis

A

AR

43
Q

group of metabolic disorders caused by absence or malfunctioning of lysosomal enzymes needed to breakdown molecules called glycosaminoglycans (GAGs)

**alpha 1 iduronidase def
**CORNEAL CLOUDING

A

Mucopolysaccharides/ Hurlers (except hunter -XR)
-Alpha L Iduronidase def

44
Q

Lysosomal storage diseases
“Fabulous Goucho’s at Niemanns Makes Tay Krabbe”

A

Fabry’s (XR)
Gaucher’s (AR)
Niemann-Pick (AR)
Metachromatic Leukodystrophy (AR)
Tay Sachs (AR)
Krabbe (AR)

Tay: NO hepatosplenomegaly
Niemann- HEPATOSPLENOMEGALY

45
Q

MUSTY body odor
AROMATIC AMINO ACID disorder
mental retard, growth retard

**DEC in Phenylalanine Hydroxylase, dec in tetrahydrobiopterin, tyrosine becomes essential

Inc Phenylalanine leads to INC phenylketones in urine
TX: dec phenylalanine (contained in aspartame, nutrasweet) and increase in tyrosine in diet

A

PKU
AR pattern

46
Q

X Linked Recessive
“Be Wise, Fools GOLD Hurts High Hopes”

A

Bruton’s agammaglobulinemia
Wiskott Aldrich Syndrome
Fabry’s Syndrome
G6PD def
Ocular Albinism
Lesch Nyhan Syndrome
Dystrophy (duchenne’s and brecker’s)
Hunter’s Syndrome
Hemophilia A (8)
Hemophilia B (9)

47
Q

disordered B cell maturation

*mutated tyrosine kinase
*presents after 6 months of life

-Recurrent bacterial, entroviral (polio, coxs), and Giardia infections
-avoid live vax

A

Bruton’s agammaglobulinemia
XR

48
Q

Wiskott aldrich
(WAITER)

A

“WAITER”

WASP gene mutation
HYPER IGA, DEC IGM
dIes by Bleeding
Thrombocytopenia
Eczema
Recurrent infections

XR

49
Q

Fabry’s disease
(fabry’c)

A

Foam cells/febrile episodes
Alpha galactosidase, A deficiency, Angiokeratomas
Burning pain hands/feet, “peripheral neuropathy”/Boys
Renal failure **THINK kidney
YX genotype (Male, x linked recessive)
Ceramide Trihexoside ACCUMULATION /CV disease

X linked Recessive

50
Q

X linked recessive disorder
RBC hemolysis after exposure to oxidative drugs (aspirin, sulfa, nitro, dapsone, primaquine, quinidine), fava beans or infection

**BITE cells and HEINZ bodies
**Mediteranean descent

(oxidative drugs should be avoided)

A

G6PD

MORFHI BITES w/ G6PD (morph w/ F)

M: Mediterranean descent
O: oxidative drugs exposure, should be avoided
R: RBC hemolysis
P: g6Pd
F: fava beans
H: HEINZ bodies
I: infection. anemia

BITE CELS
XR

51
Q

Eyes lack melanin
Skin/Hair show normal coloration

(black baby with blue eyes)

A

Ocular Albinism
XR

52
Q

Lesch-Nyhan
“Men Suck Self Hand- LESCH”

A

XR

Mental retardation
Self mutilation
HGPRT
Lesch Nyhan

53
Q

deletion of dystrophin gene
INC creatine kinase

A

Duchenne’s XR

54
Q

Mutated dystrophin gene (milder form)

A

Becker’s XR

55
Q

Hunter’s

A

XR

56
Q

Hemophilia A / B

A

XR

57
Q

X Linked Dominant

*at least one parent of either sex is affected and ALL female offspring of affected males have the disease

A

-Vitamin D/Ricketts
-Fragile X

58
Q

too much CGG leads to hypermethylation and gene inactivation

*prominent/long ears
*long face, delayed speech
*large testes, macroorchidism
*autistic like behavior

A

Fragile X - CGG
XD

59
Q

Mitochondrial Inheritance: transmitted to ALL by MOM

*during meiosis determines which offspring get a more severe or less severe version

A

MLL
Myoclonic epilepsy w/ ragged red fibers (MERRF)
Leigh Syndrome
Lebers Hereditary Optic Neuropathy

60
Q

DOWNS
-trisomy 21 on chromosome 21, assoc with maternal age, duodenal artesia, ALL, Early alzheimer’s dementia, AB amyloid, Hirschsprung dz

A

DEC alpha feto protein
INC beta HCG
DEC Estriol
INC Inhibit A

meiotic non dysfunction, robertsonion translocation
DX: karyotyping of fetal cells

61
Q

**if you see young kid, repeated sinus infections, ear aches, membrane potential probs in nasal/lung/sweat glands, fam hx, THICK VICOUS FLUID, absence of vas deferens

**most likely to die from respiratory infection

A

CYSTIC FIBROSIS, ATP GATED CHANNELS, CFTR MUTATION

sweat glands/epithelial surfaces:
CL GETS OUT (INC CL SECRETION, NA SECRETION)

lung/nasal/etc: CL CANT GET OUT (INC CL ABSORT, NA ABSORPTION), big ^^ in membrane potential diff, THICK VICOUS FLUID

DX: CHLORIDE IN THE SWEAT
TX: PANCREATIC LIPASE

62
Q

achondroplasia

**homozygotes leads to death

A

AD

FGFR3 gene

63
Q

**if you see
epicanthal folds
flattened facial profile and nose
older woman giving birth
duodenal atresia
ALL
early alzheimers

A

downs “down up down up”

Meiotic non disjunction: 3 copies of ch 21
if they say its not ^, then its robertsonian translocation and part of it becomes attached to another

64
Q

if you see GOMORI TRICHROME stain: Mitochondrial Myopathy, mitochondrial inheritance

what % of their kids will get it

A

100% of children will get it if mom has it
0% of children will get it if dad has it

65
Q

DEFICIENCY OF TRYPTOPHAN
***may lead to NIACIN DEFICIENCY
**ELEVATED 5HIAA SEROTONIN LEVELS IN URINE

A

carcinoid syndrome

66
Q

HIGH unconjug bili
UGT1A1 GENE MUTATION
dec UDPGT

A

Gilberts
(episodic jaundice, resolves)

67
Q

ABSENT UDPGT
HIGH unconj bili
early baby, death
TX: liver transplant

A

Crigler -Najjar

COMLEX/USMLE 1 (17 decks)

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