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First Aid > Genetic Disorders (inheritance + defects) > Flashcards

Genetic Disorders (inheritance + defects) Flashcards

1
Q

Polycystic kidney disease

A

Can be both AR and AD;

AD:85% mut in PKD1; 15% mut in PKD2

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2
Q

Cystic fibrosis

A

AR:

Defective CFTR on ch.7

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3
Q

Familial adenomatous polyposis

A

AD:

Mut APC gene on ch.5q

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4
Q

Bruton agammaglobulinemia

A

XLR:

Defect in BTK tyrosine kinase gene

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5
Q

Albinism

A

AR:

Impaired tyrosinase activity or tyrosine transport, or impaired NC migration

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6
Q

Wiskott-Aldrich syndrome

A

XLR:

Mut in WAS gene

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7
Q

Glycogen storage diseases

A

AR

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8
Q

Hemochromatosis

A

AR:

C282Y or H63D mut on HFE gene

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9
Q

Familial hypercholesterolemia

A

AD:

Defective/absent LDL receptor

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10
Q

Hereditary hemorrhagic telangiectasia (aka Osler-Weber-Rendu)

A

AD:

Blood vessel disorder

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11
Q

Fabry disease

A

XLR:

alpha-galactosidase A deficiency

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12
Q

G6PD deficiency

A

XLR:

Defect in G6PD, duh.

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13
Q

Kartagener syndrome

A

AR:

Dynein arm defect

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14
Q

Hurler syndrome

A

AR:

alpha-L-iduronidase deficiency

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15
Q

Ocular albinism

A

XLR

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16
Q

Lesch-Nyhan syndrome

A

XLR:

Absent HGPRT

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17
Q

Hereditary spherocytosis

A

AD:

Spectrin or ankyrin defect

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18
Q

Huntington disease

A

AD:

CAG repeat on ch.4 –> hungtingtin mut

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19
Q

Marfan syndrome

A

AD:

Mut of fibrillin-1

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20
Q

Phenylketonuria (PKU)

A

AR:

Deficient phenylalanine hydroxylase or tetrahydrobiopterin cofactor

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21
Q

Sickle cell anemia

A

AR:

Glu–>Val at position 6 in Beta chain

22
Q

Duchenne muscular dystrophy

A

XLR

Frameshift mut in dystrophin gene

23
Q

Becker muscular dystrophy

A

XLR

Point mut in dystrophin gene

24
Q

Neurofibromatosis type 1

A

AD:

Mut in NF1 gene on ch.17

25
Q

Neurofibromatosis type 2

A

AD:

Mut in NF2 gene on ch.22

26
Q

Hunter syndrome

A

XLR:

Iduronate sulfatase deficiency

27
Q

Hemophilia A

A

XLR:

Factor VIII deficiency

28
Q

Hemophilia B

A

XLR:

Factor IX deficiency

29
Q

Ornithine trancarbamylase deficiency

A

XLR

30
Q

Sphingolipidoses (Gaucher, Niemann-Pick, Tay-Sachs, Krabbe, Metachromatic leukodystrophy)

A

AR (except Fabry disease which is XLR)

31
Q

Thalassemias

A

AR

32
Q

Wilson disease

A

AR:

Defect in ATP7B gene on ch.13

33
Q

Tuberous sclerosis

A

AD with incomplete penetrance + variable expression

34
Q

von Hippel-Lindau disease

A

AD:

Deletion of VHL gene on ch.3

35
Q

Fragile X syndrome

A

XLD:

CGG repeat –> FMRP mut

36
Q

Myotonic dystrophy

A

AD:

CTG repeat –> expanded DMPK gene

37
Q

Friedreich ataxia

A

AR:

GAA repeat –> FXN mut

38
Q

Achondroplasia

A

Sporadic or AD:

FGFR3 activation

39
Q

von Willebrand disease

A

AD:

Deficient vWF

40
Q

Sideroblastic anemia

A

XL (most common):

Mut in delta-ALA synthase gene

41
Q

Hereditary nonpolyposis colorectal cancer (HNPCC/Lynch syndrome)

A

AD:

Mut of DNA mismatch repair genes

42
Q

Peutz-Jeghers syndrome

A

AD

43
Q

MEN syndromes

A

AD:

ret gene mutation in Men2A and Men2B

44
Q

SCID

A

XL (most common): defective IL-2R gamma chain

AR: adenosine deaminase deficiency

45
Q

Hyper-IgM syndrome

A

XLR:

Defective CD40L on Th cells

46
Q

Chronic granulomatous disease

A

XLR:

Defective NADPH oxidase

47
Q

Hyperchylomicronemia(type 1)

A

AR:

Lipoprotein lipase deficiency or altered APOC-II

48
Q

Hypertriglyceridemia (type 4)

A

AD:

Hepatic overproduction of VLDL

49
Q

Cystinuria

A

AR:

Defect of PCT and aa transporter for cysteine, ornithine, lysine, and arginine

50
Q

Hypophosphatemic rickets

A

XLD:

increased phosphate wasting at proximal tubule

51
Q

Mitochondrial myopathies

A

Mitochondrial inheritance, duh.

Failure in oxidative phosphorylation

52
Q

Fructose metabolism disorders

A

AR

First Aid (18 decks)

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