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Flashcards in Inheritance Deck (33)
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1
Q

Achondroplasia

A

Auto Dom
FGFR 3
Sx: dwarfism, short limbs, larger head, trunk size normal

2
Q

ADPKD

A

Auto Dom
PKD1, chromo 16
Sx: polycystic liver disease, berry aneurysms, mitral valve prolapse

3
Q

FAP

A

Auto Dom
APC on chromo 5
Sx: adenomas on colon progressing to colon cancer

4
Q

Familial hypercholesterolemia

A

Auto Dom
elevated LDL due to defect or absent LDL receptor
Sx: atherosclerotic disease early in life, tendon xanthomas, MI

5
Q

Hereditary hemorrhagic telangiectasia (osler-weber-rendu)

A

Auto Dom

Sx: telangiectasia, recurrent epistaxis, skin discolorations, AVM

6
Q

Hereditary spherocytosis

A

Auto Dom
Spectrin or ankyrin defect
Sx: hemolytic anemia, increased MCHC

7
Q

Huntington’s disease

A

Auto Dom
CAGn on chromo 4
Sx: depression, dementia, choreiform movements, caudate atrophy, decreased GABA and ACh

8
Q

Marfan’s syndrome

A

Auto dom
Fibrillin 1 gene mutation
Sx: long extremities, pectus excavatum, hypermobile joints, long fingers, dissecting aortic aneurysms, subluxation of lens

9
Q

MEN

A

Auto Dom

MEN 2A and 2B associated with ret gene

10
Q

NF1 (von recklinghausens)

A

Auto Dom
Chromo 17
Sx: cafe-au-lait spots, neural tumors, lisch nodules

11
Q

NF2

A

Auto Dom
NF2 on chromo 22
Sx: bilateral acoustic schwannomas, juvenile cataracts

12
Q

tuberous sclerosis

A

Auto Dom
Sx: adenoma sebaceum, ash leaf spots hypopigmented, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, renal angiomyolipomas, cardiac rhabomyomas
- increased chance of astrocytomas

13
Q

Von Hippel Lindau disease

A

Auto Dom
deletion of VHL on chromosome 3, increased HIF
Sx: hemangioblastomas of retina/cerebellum/medulla, bilateral renal cell CA or tumors

14
Q

Albinism

A

Auto Rec

15
Q

ARPKD

A

auto rec

16
Q

cystic fibrosis

A

auto rec
CFTR on chromo 7, deletation of Phe
Sx: recurrent pulmonary infections, bronchitis, bronchiectasis, pancreatic insufficiency, nasal polyps, meconium ileus

17
Q

glycogen storage disease

A

Auto Rec

18
Q

Hemochromatosis

A

Auto rec

19
Q

mucopolysaccharidosese (not hunters)

A

auto rec

20
Q

PKU

A

auto rec

21
Q

sickle cell anemias

A

Auto rec

22
Q

sphingolipidoses (not Fabrys)

A

Auto rec

23
Q

thalassemias

A

auto rec

24
Q

bruton’s agammaglobulinemia

A

x link rec

25
Q

wiskott aldrich

A

x link rec

26
Q

fabrys disease

A

x link rec

27
Q

G6PD def

A

x link rec

28
Q

ocular albinism

A

x link rec

29
Q

lesch nyhan syndrome

A

x link rec

30
Q

duchennes/beckers

A

x link rec

31
Q

hunter’s syndrome

A

x link rec

32
Q

hemophilia A and B

A

x link rec

33
Q

ornithine transcarbamoylase

A

x link rec