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--Step Shit-- > Genetic Disorders - Sheet1 (1) > Flashcards

Genetic Disorders - Sheet1 (1) Flashcards

1
Q
  • Severe photosensitivity
  • Hyperpigmentation in sun-exposed areas
  • Increased risk for skin cancer

Etiology? Inheritance?

A

Xeroderma Pigmentosum

Defective Nucleotide Excision Repair

Autosomal recessive

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2
Q
  • Colorectal cancer
  • Endometrial cancer
  • Ovarian cancer
  • Skin cancers

Etiology? Inheritance?

A

Lynch Syndrome (HNPCC)

Defective Mismatch Repair (MLH1)

Autosomal dominant

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3
Q
  • Immnodeficiency
  • Gait instability & ataxia
  • Cutaneous telangiectasias

Etiology?

A

Ataxia Telangiectasia

Defective repair of double-stranded DNA breaks

(ATM gene)

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4
Q
  • Genetic susceptibility to
    • breast
    • ovarian
    • pancreatic cancers

Etiology?

A

BRCA1 Mutation

Defective repair of double-stranded DNA breaks

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5
Q
  • Young child with pancytopenia
  • Dry bone marrow tap
  • Short stature
  • Absent thumb/radial defects
  • Cafe-au-lait spots
  • Increased risk for leukemia/tumors

Etiology?

A

Fanconi anemia

Defective repair of double-stranded DNA breaks

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6
Q
  • Rapid onset macrocytic anemia within 1st year of life
  • Short stature
  • Craniofacial abnormalities
  • Triphalangeal thumbs
A

Diamond Backfan Anemia

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7
Q
  • Multiple fractures with minimal trauma
  • Blue sclerae
  • Dental abnormalities
  • Hearing loss

Etiology? Inheritance?

A

Osteogenesis Imperfecta

Defective type I collagen

Autosomal dominant

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8
Q
  • Hyperextensible skin
  • Easy bruising
  • Hypermobile joints & joint dislocation

Etiology?

A

Ehlers-Danlos Syndrome (Classical type)

Defect in type V collagen

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9
Q
  • Many berry aneurysms
  • Risk for aortic aneurysms
  • Organ rupture

Etiology?

A

Ehlers-Danlos Syndrome (Vascular type)

Defect in type III collagen

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10
Q
  • Brittle, kinky hair
  • Growth retardation
  • Hypotonia

Etiology? Inheritance?

A

Menkes Disease

Impaired copper absorption

(ATP7A mutation) leads to decreased lysyl oxidase activity (collagen cross-linking)

X-linked recessive

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11
Q
  • Tall with long extremities & arachnodactyly
  • Pectus carinatum/excavatum
  • Hypermobile joints
  • Medial necrosis of aorta (risk for aneurysms)
  • Aortic regurgitation
  • Floppy mitral valve
  • Subluxation of lens

Etiology? Inheritance?

A

Marfan Syndrome

Defective fibrillin (FBN1 gene)

Autosomal dominant

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12
Q
  • Fibrous dysplasia of several bones
  • Precocious puberty
  • Unilateral hyperpigmented cutaneous macules with ragged edges
  • Other endocrinopathies

Etiology?

A

McCune-Albright Syndrome

Activating mutation in G-protein signaling (exhibits mosaicism)

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13
Q
  • Hyperphagia
  • Obesity
  • Intellectual disability
  • Hypogonadism
  • Hypotonia

Etiology?

A

Prader-Willi Syndrome

Paternal mutation, maternal imprinting

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14
Q
  • Inappropriate laughter
  • Seizures
  • Ataxia
  • Severe intellectual disability

Etiology?

A

Angelman Syndrome

Maternal mutation, paternal imprinting

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15
Q
  • Child with bowed legs & soft bones
  • Resistant to vitamin D supplementation

Etiology? Inheritance?

A

Hypophosphatemic rickets

Phosphate wasting at proximal tubule

X-linked dominant

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16
Q
  • Autism & intellectual disability
  • Long face with large jaw
  • Large everted ears
  • Macroorchidism
  • Mitral valve prolapse

Etiology? Inheritance?

A

Fragile X Syndrome

CGG repeat expansion in FMR1 gene (hypermethylation)

X-linked dominant

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17
Q
  • Retinopathy & lens dislocation
  • Sensorineural deafness
  • Glomerulonephritis

Etiology? Inheritance?

A

Alport Syndrome

Defect in type IV collagen

X-linked dominant

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18
Q
  • Recurrent pulmonary infections
  • Chronic bronchitis & bronchiectasis
  • Malabsorption with steatorrhea
  • Biliary cirrhosis & liver disease
  • Meconium ileus in newborns
  • Infertility in men, subfertility in women
  • Nasal polyps
  • Clubbing of nails

Etiology? Inheritance?

A

Cystic fibrosis

CFTR Phe508 deletion

Autosomal recessive

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19
Q
  • Adolescent onset of proximal muscle weakness
  • Calf pseudohypertrophy
  • Positive Gower sign

Etiology? Inheritance?

A

Becker Muscular Dystrophy

Mutation in dystrophin gene (not frameshift)

X-linked recessive

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20
Q
  • Early onset proximal muscle weakness
  • Calf pseudohyertrophy
  • Positive Gower sign
  • Dilated cardiomyopathy

Etiology? Inheritance?

A

Duchenne Muscular Dystrophy

Frameshift mutation in dystrophin gene

X-linked recessive

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21
Q
  • Delayed muscle relaxation after contraction
  • Muscle wasting
  • Cataracts
  • Testicular atrophy
  • Frontal balding (toupee)
  • Arrhythmias

Etiology? Inheritance?

A

Myotonic dystrophy

CTG repeat expansion in DMPK gene

Autosomal dominant

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22
Q
  • Sudden, jerky movements of limbs
  • Snake-like writhing of fingers
  • Agression
  • Depression
  • Dementia

Etiology? Inheritance?

A

Huntington Disease

CAG repeat expansion (deacetylation)

Autosomal dominant

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23
Q
  • Muscle weakness
  • Loss of deep tendon reflexes, vibratory sense, proprioception
  • Staggering gait with frequent falls
  • Nystagmus
  • Dysarthria
  • Pes cavus
  • Hammer toes
  • Diabetes mellitus
  • Hypertrophic cardiomyopathy
  • Kyphoscoliosis

Etiology? Inheritance?

A

Friedreich Ataxia

GAA repeat expansion frataxin gene

Autosomal recessive

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24
Q
  • Intellectual disability
  • Flat facies
  • Prominent epicanthal folds
  • Single palmar crease
  • Gap between 1st & 2nd toes
  • Duodenal atresia
  • Hirschsprung disease
  • Atrioventricular septal defect
  • Brushfield spots in eyes
  • Early onset Alzheimer disease
  • Increased risk of ALL & AML

Etiology?

A

Down syndrome

Trisomy 21

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25
Q
  • Intellectual disability
  • Prominent occiput
  • Rocker-bottom feet
  • Clenched fists with overlapping fingers
  • Low-set ears
  • Micrognathia
  • Congenital heart disease
  • Death usually by age 1

Etiology?

A

Edwards Syndrome

Trisomy 18

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26
Q
  • Intellectual disability
  • Rocker-bottom feet
  • Microphthalmia
  • Microcephaly
  • Cleft lip/palate
  • Holoprosencephaly
  • Polydactyly
  • Cutis aplasia
  • Congenital heart disease
  • Death usually by age 1

Etiology?

A

Patau Syndrome

Trisomy 13

27
Q
  • Microcephaly
  • Epicanthal folds
  • Intellectual disability
  • High pitched crying/meowing
  • Cardiac VSD

Etiology?

A

Cri-du-chat Syndrome

Microdeletion of chromosome 5 short arm

28
Q
  • Intellectual disability
  • Hypercalcemia
  • Well-developed verbal skills
  • Extreme friendliness with strangers
  • Distinctive elfin facies
  • Cardiovascular problems

Etiology?

A

Williams Syndrome

Microdeletion of chromosome 7

29
Q
  • Thymic aplasia & immunodeficiency
  • Hypocalcemia
  • Cardiac defects
  • Facial & palatal abnormalities

Etiology?

A

DiGeorge Syndrome

22q11 deletion (impaired development of 3rd & 4th branchial pouches)

30
Q
  • Cleft palate
  • Abnormal facies
  • Cardiac defects

Etiology?

A

Velocardiofacial Syndrome

22q11 deletion (impaired development of 3rd & 4th branchial pouches)

31
Q
  • Port-wine stain of face
  • Ipsilateral leptomeingeal angioma
  • Seizures & epilepsy
  • Intellectual disability
  • Episcleral hemangioma
  • Early-onset glaucoma

Etiology?

A

Sturge-Weber Syndrome (Encephalotrigeminal angiomatosis)

Abnormal development of neural crest derviatives

(GNAQ gene mutation)

32
Q
  • Hamartomas in CNS & skin
  • Angiofibromas
  • Mitral regurgitation
  • Ash-leaf spots
  • Cardiac rhabdomyomas
  • Intellectual disability
  • Renal angiomyolipoma
  • Seizures Shagreen patches
  • Subependymal giant cell astrocytomas
  • Ungual fibromas

Etiology? Inheritance?

A

Tuberous sclerosis

TSC1/2 mutation

Autosomal dominant

33
Q
  • Hyperpigmented cutaneous macules with smooth edges
  • Cutaneous neurofibromas
  • Optic gliomas
  • Pheochromocytomas
  • Lisch nodules (pigmented iris hamartomas)

Etiology? Inheritance?

A

Neurofibromatosis type I (von Recklinghausen disease)

NF1 tumor suppressor mutation

Autosomal dominant

34
Q
  • Bilateral acoustic schwannomas
  • Juvenile cataracts
  • Meningiomas
  • Ependymomas

Etiology? Inheritance?

A

Neurofibromastosis type II

NF2 tumor suppressor mutation

Autosomal dominant

35
Q
  • Hemangioblastomas in retina, brain stem, cerebellum, & spine
  • Angiomatosis (skin, mucosa, organs)
  • Renal cell carcinomas
  • Pheochromocytomas

Etiology? Inheritance?

A

Von Hippel-Lindau Disease

VHL gene deletion

Autosomal dominant

36
Q
  • Hemolytic anemia in response to
    • infection
    • fava beans
    • sulfonamides
    • primaquine
    • anti-TB drugs

Etiology? Inheritance?

A

G6PD Deficiency

Defect in glucose-6-phosphate dehydrogenase

X-linked recessive

37
Q
  • Normocytic anemia
  • Increased reticulocyte counts
  • Splenomegaly
  • Normal haptoglobin
  • Spherocytes on blood smear
  • Frequent gallstones

Etiology? Inheritance?

A

Hereditary Spherocytosis

Ankyrin/band3/spectrin defect

Autosomal dominant

38
Q
  • Pituitary tumor
  • Pancreatic endocrine tumor
  • Parathyroid hyperplasia

Etiology? Inheritance?

A

MEN 1 Syndrome

MEN1 gene mutation (menin)

Autosomal dominant

39
Q
  • Parathyroid hyperplasia
  • Pheochromocytoma
  • Medullary thyroid carcinoma

Etiology? Inheritance?

A

MEN 2A Syndrome

RET gene mutation

Autosomal dominant

40
Q
  • Pheochromocytoma
  • Medullary thyroid carcinoma
  • Mucosal neuromas
  • Marfanoid habitus

Etiology? Inheritance?

A

MEN 2B Syndrome

RET gene mutation

Autosomal dominant

41
Q
  • Thousands of colonic polyps starting after puberty

Etiology? Inheritance?

A

Familial adenomatous polyposis (FAP)

APC gene mutation

Autosomal dominant

42
Q
  • Thousands of colonic polyps starting after puberty
  • Osseous & soft tissue tumors
  • Congenital hypertrophy of retinal pigment epithelium
  • Impacted, supernumerary teeth
A

Gardner Syndrome

43
Q
  • Thousands of colonic polyps
  • Medulloblastomas
  • Gliomas
A

Turcot Syndrome

44
Q
  • Hamartomas in GI tract
  • Hyperpigmented mouth, lips, hands, & genitalia
  • Increased risk of:
    • breast cancers
    • colorectal cancers
    • stomach cancers
    • small bowel cancers
    • pancreatic cancers

Inheritance?

A

Peutz-Jeghers Syndrome

Autosomal dominant

45
Q
  • Children (< 5yrs old) with hamartomatous polyps in colon, stomach, & small bowel
  • Increased risk of colorectal cancer

Inheritance?

A

Juvenile polyposis syndrome

Autosomal dominant

46
Q
  • Mild jaundice that occurs with stress, illness, or fasting
  • Increased unconjugated bilirubin
  • No hemolysis

Etiology? Inheritance?

A

Gilbert Syndrome

Decreased UDP-glucuronosyltransferase

Autosomal Recessive

47
Q
  • Jaundice
  • Kernicerus
  • Increased unconjugated bilirubin
  • No hemolysis

Etiology? Inheritance?

A

Crigler-Najjar Syndrome

Absent UDP-glucuronosyltransferase

Autosomal Recessive

48
Q
  • Black liver
  • Elevated conjugated bilirubin
  • No biliary tract obstruction

Etiology? Inheritance?

A

Dubin-Johnson Syndrome

Defective liver excretion of bilirubin

Autosomal Recessive

49
Q
  • Elevated conjugated bilirubin
  • No biliary tract obstruction
  • Liver is not black

Etiology? Inheritance?

A

Rotor Syndrome

Defective liver excretion of bilirubin

Autosomal Recessive

50
Q
  • Liver disease
  • Dysarthria, dystonia
  • Tremor, parkinsonism
  • Psychiatric disease
  • Kayser-Fleischer rings in cornea
  • Hemolytic anemia
  • Fanconi Syndrome
  • Decreased serum ceruloplasmin

Etiology? Inheritance?

A

Wilson Disease

ATP7B gene mutation

Autosomal Recessive

51
Q
  • Cirrhosis
  • Diabetes mellitus
  • Skin hyperpigmentation
  • Cardiomyopathy
  • Hypogonadism
  • Arthropathy (pseudogout)

Etiology? Inheritance?

A

Hemochromatosis

HFE gene mutation (C282Y)

Autosomal Recessive

52
Q
  • Respiratory distress
  • Right heart failure
  • Atherosclerosis, fibrosis, & plexiform lesions in pulmonary artery

Etiology?

A

Heritable Pulmonary Arterial Hypertension

Mutation in BMPR2 gene/ endothelin

53
Q
  • Hypokalemia
  • Metabolic alkalosis
  • Hypercalciuria
  • Increased plasma renin & aldosterone

Etiology? Inheritance?

A

Bartter Syndrome

Defect in NKCC transporter in ascending limb of loop of Henle

Autosomal Recessive

54
Q
  • Hypokalemia
  • Metabolic alkalosis
  • Hypocalciuria
  • Hypomagnesemia
  • Increased plasma renin & aldosterone

Etiology? Inheritance?

A

Gitelman Syndrome

Defect in NaCl transporter in DCT

Autosomal Recessive

55
Q
  • HTN
  • Hypokalemia
  • Metabolic alkalosis
  • Decreased renin & aldosterone
  • Normal levels of cortisone

Etiology? Inheritance?

A

Liddle Syndrome

Activation of ENaC

Autosomal Dominant

56
Q
  • Wilms tumor
  • Aniridia
  • Genitourinary malformations
  • Mental retardation

Etiology?

A

WAGR complex

WT1 deletion

57
Q
  • Wilms tumor
  • Early-onset nephrotic syndrome
  • Male pseudohermaphroditism

Etiology?

A

Denys-Drash

WT1 mutation

58
Q
  • Wilms tumor
  • Macroglossia
  • Organomegaly
  • Hemihyperplasia

Etiology?

A

Beckwith-Wiedemann

WT2 mutation

59
Q
  • Cysts & abnormal connective tissue in the kidney at birth
    • Can be unilateral or bilateral

Etiology?

A

Multicystic Dysplastic Kidney

Congenital malformation (non-inherited)

60
Q
  • HTN with increased renin
  • Hematuria
  • Enlarged kidneys with cysts in cortex & medulla
  • Berry aneurysms
  • Hepatic cysts
  • Mitral valve prolapse

Etiology? Inheritance?

A

Autosomal Dominant PKD

APKD1 or APKD2 gene mutation

61
Q
  • Renal failure & HTN in infant
  • Enlarged kidneys with cysts in cortex & medulla
  • Potter sequence
  • Hepatic fibrosis & cysts

Inheritance?

A

Autosomal Recessive PKD

62
Q
  • Shrunken kidneys & renal failure
  • Cysts in medullary collecting ducts

Inheritance?

A

Medullary cystic kidney disease

Autosomal dominant

63
Q
  • Recurrent epistaxis
  • Easy bruising
  • Petechiae & purpura
  • Increased bleeding time
  • Increased PTT, normal PT
  • No aggregation with ristocetin assay

Etiology? Inheritance?

A

Von Willebrand Disease

vWF deficiency

Autosomal dominant

64
Q
  • DVT at early age
  • Cerebral vein thromboses
  • Recurrent pregnancy loss

Etiology?

A

Factor V Leiden

Mutant factor V resistant to degradation

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