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First Aid - Biochem + Genetics Diseases Flashcards

Name the defect/deficiency and inheritance pattern, if applicable.

1
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Ostoegenesis imperfecta

A

Type I collagen; AD

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2
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Alport syndrome

A

Type IV collagen

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3
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Ehlers-Danlos syndrome, classical

A

Type V + type I collagen; AD or AR

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4
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Ehlers-Danlos syndrome, vascular

A

Type III collagen; AD or AR

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5
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Menkes Disease

A

Decr Cu absorption and transport –> decr lysyl oxidase (collagen cross-linking)

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6
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Marfan Syndrome

A

Fibrillin-1; AD

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7
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

A

Mostly mut PKD1 (Chr 16), or PKD2 (Chr 4); AD

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8
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Familial Adenomatous Polyposis

A

Mut APC (Chr 5); AD

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9
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Familial hypercholesterolemia

A

Defective/absent LDL receptor; AD

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10
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Hereditary hemorrhagic telangiectasia

A

Disorder of blood vessels (aka Osler-Weber-Rendu Syndrome); AD

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11
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Hereditary spherocytosis

A

Spectrin/ankyrin; AD

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12
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Huntington Disease

A

CAG repeats in huntingtin gene on chr 4; AD

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13
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Neurofibromatosis Type 1 (von Recklinghausen)

A

NF1 gene (chr 17); AD

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14
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Neurofibromatosis Type 2

A

NF2 gene (chr 22); AD

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15
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Multiple Endocrine Neoplasia

A

MEN 2A and 2B associated with ret gene mutation; AD

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16
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Tuberous Sclerosis

A

Neurocutaneous disorder; AD

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17
Q

Name the defect/deficiency and inheritance pattern, if applicable.

von Hippel-Lindau Disease

A

Del of VHL tumour suppressor (chr 3); AD

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18
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Cystic Fibrosis

A

CFTR (chr 7); AR

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19
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Duchenne Muscular Dystrophy

A

Dystrophin (frameshift); XR

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20
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Becker Muscular Dystrophy

A

Dystrophin (point); XR

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21
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Myotonic Type 1 Muscular Dystrophy

A

CTG repeats in DMPK gene

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22
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Fragile X Syndrome

A

FMR1 gene, XR

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23
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Down Syndrome

A

Trisomy 21

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24
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Edwards Syndrome

A

Trisomy 18

25
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Patau Syndrome

A

Trisomy 13

26
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Cri-du-chat Syndrome

27
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Williams Syndrome

28
Q

Name the defect/deficiency and inheritance pattern, if applicable.

DiGeorge & Velocardiofacial Syndrome

A

Del in 22q11

29
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Pyruvate dehydrogenase deficiency

A

Pyruvate dehydrogenase –> incr lactate + alanine

30
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Chronic Granulomatous Disease

A

NADPH oxidase

31
Q

Name the defect/deficiency and inheritance pattern, if applicable.

G6PD Deficiency

32
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Essential Fructosuria

A

Fructokinase –> incr fructose; AR

33
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Fructose Intolerance

A

Aldolase B –> incr fructose-1-P; AR

34
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Galactokinase Deficiency

A

Galactokinase –> incr galactitol; AR

35
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Classic Galactosemia

A

Galactose-1-P uridyltransferase –> incr galactitol; AR

36
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Lactase deficiency

A

Lactase –> incr H+ in gut

37
Q

Name the defect/deficiency and inheritance pattern, if applicable.

N-acetylglutamate deficiency

A

N-acetylglutamate –> hyperammonemia

38
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Ornithine transcarbamylase (OTC) deficiency

A

OTC –> incr orotic acid, hyperammonemia; XR

39
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Phenylketonuria

A

Phenylalanine hydroxylase or tetrahydrobiopterin cofactor –> incr phenylalanine; AR

40
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Alkaptonuria

A

Homogentisate oxidase; AR

41
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Homocystinuria

A

Cystathionin synthase or homocysteine methyltransferase (methionine synthase); AR

42
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Cystinuria

A

Renal PCT & intestinal AA transporter for Cysteine, Ornithine, Lys, and Arg (COLA); AR

43
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Maple Syrup Urine Disease

A

Alpha-ketoacid dehydrogenase (B1) –> incr branched amino acids (Ile, Le, Val); AR

44
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Von Gierke Disease (Type I glycogen storage disease)

A

Glucose-6-phosphatase; AR

45
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Pompe Disease (Type II glycogen storage disease)

A

Lysosomal alpha-1,4-glucosidase (acid maltase); AR

46
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Cori Disease (Type III glycogen storage disease)

A

Debranching enzyme (alpha-1,6-glucosidase); AR

47
Q

Name the defect/deficiency and inheritance pattern, if applicable.

McArdle Disease (Type V glycogen storage disease)

A

Skeletal muscle glycogen phosphorylase (myophosphorylase); AR

48
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Fabry Disease

A

Alpha-galactosidase A –> incr ceramide trihexosidase; XR

49
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Gaucher Disease

A

Glucocerebrosidase (beta-glucosidase) –> incr glucocerebroside; AR

50
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Niemann-Pick Disease

A

Sphingomyelinase –> incr sphingomyelin; AR

51
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Tay-Sachs Disease

A

Hexosaminidase A –> incr GM2 ganglioside; AR

52
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Krabbe Disease

A

Galactocerebrosidase –> incr galactocerebroside, psychosine; AR

53
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Metachromic leukodystrophy

A

Arylsulfatase A –> incr cerebroside sulfate; AR

54
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Hurler Syndrome

A

Alpha-L-iduronidase –> incr heparan sulfate, dermatan sulfate; AR

55
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Hunter Syndrome

A

Iduronate sulfatase –> incr heparan sulfate, dermatan sulfate; XR

56
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Hyperchylomicronemia (Type I familial dyslipidemia)

A

Lipoprotein lipase or altered Apo-C II –> incr chylomicrons, TC, cholesterol; AR

57
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Hypertriglyceridemia (Type IV familial dyslipidemia)

A

Overproduction of VLDL; AD

58
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Lesch-Nyhan Syndrome

A

HGPRT –> incr uric acid and de novo purine synthesis; XR

59
Q

Name the defect/deficiency and inheritance pattern, if applicable.

Adenosine deaminase deficiency

A

Increases ATP, causes negative feedback inhibition of ribonucleotide reductase, is a major cause of SCID; AR

USMLE (23 decks)

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