Modes of Inheritance Flashcards Preview

USMLE Step 1 Random Facts > Modes of Inheritance > Flashcards

Flashcards in Modes of Inheritance Deck (49):
1

Prader-Willi synd

Paternal allele not expressed

2

Angelman's synd

Maternal allele not expressed

3

hypophosphatemic rickets

X-linked dominant

4

MERRF

mitochondrial inheritance

myoclonic seizures + myopathy ass w/ exercise

5

Leber optic neuritis

mitochondrial inheritance

bilateral vision loss

6

MELAS

mitochondrial inheritance

mitochondrial encephalopathy w/ lactic acidosis and stroke-like episodes

7

achondroplasia

AD

mut in FGFR-3

8

ADPKD

AD

mut in PKD1 (chrom 16)

9

familial adenomatous polyposis

AD

chrom 5 (mut APC gene)

10

familial hypercholesterolemia (hyperlipidemia type IIA)

AD

11

hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu synd)

AD

12

hereditary spherocytosis

AD

defect in spectrin or ankyrin

13

Huntington's dz

AD

chrom 4 (CAG repeat)

14

Marfan's synd

AD

fibrillin-1 mut

15

multiple endocrine neoplasias (MEN)

AD

MEN 2A/2B - ass w/ Ret gene

16

NF-1 (von Recklinghausen's dz)

AD

long arm of chrom 17

17

NF-2

AD

chrom 22

18

tuberous sclerosis

AD

mutated hamartin (or tuberin) gene

19

VHL dz

AD

del of VHL gene on chrom 3p (const activ of HIF + angiogenic factors)

20

cystic fibrosis

AR

CFTR gene on chrom 7 (del of Phe 508)

21

albinism

AR

22

ARPKD

AR

23

glycogen storage diseases

AR

24

hemochromatosis

AR

25

mucopolysaccharidoses (except Hunter's)

AR

26

PKU

AR

27

sickle cell anemia

AR

28

sphingolipidoses (except Fabry's)

AR

29

thalassemias

AR

30

Bruton's agammaglobulinemia

X-linked recessive

31

Wiskott-Aldrich synd

X-linked recessive

32

Fabry's dz

X-linked recessive

33

G6PD deficiency

X-linked recessive

34

ocular albinism

X-linked recessive

35

Lesch-Nyhan synd

X-linked recessive

36

Duchenne's (and Becker's) muscular dystrophy

X-linked recessive

37

Hunter's synd

X-linked recessive

38

Hemophilia A + B

X-linked recessive

39

Ornithine transcarbamoylase deficiency

X-linked recessive

40

cri-du-chat

congenital microdeletion of short arm of chrom 5

41

Fragile X synd

X-linked dominant

methylation/expression of FMR1 gene

42

Alport synd

X-linked recessive

43

Charcot-Marie-Tooth dz

X-linked recessive

44

adrenoleukodystrophy

X-linked recessive

45

Androgen insensitivity synd

X-linked recessive

46

Williams synd

congenital microdel of long arm of chrom 7 (del region includes elastin gene)

47

Gardner's synd

AD
mut in APC gene

48

HNPCC/Lynch synd

AD
mutation of DNA mismatch repair genes
proximal colon ALWAYS involved

49

Rett's disorder

X-linked dom
mut of MECP-2 gene on X-chrom