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BIOCHEM W1 > All Diseases > Flashcards

All Diseases Flashcards

1
Q

Huntington

A

Autosomal dominant
HD gene
Mental retardation, neuro symptoms

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2
Q

Achondroplasia

A

Autosomal dominant
FGFR-3
Dwarfism

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3
Q

NF1 or 2

A

Autosomal dominant
NF1/NF2
Café au lait, neurofibromas

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4
Q

Marfan

A

Autosomal dominant
FBN1 (fibrillin)
Tall stature, long slender fingers

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5
Q

Familial hypercholesterolemia

A

Autosomal dominant
LDL receptor
Elevated cholesterol

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6
Q

Hurler

A

A.R.
a-L-iduronidase
Lysosomal storage disorder

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7
Q

Hereditary hemochromatosis

A

AR
HFE
Iron overload

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8
Q

Cystic fibrosis

A

AR
CFTR
Mucus buildup, sodium transport channel

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9
Q

Sickle Cell

A

AR
B-globin
Anemia

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10
Q

PKU

A

AR
Phenylalanine hydroxase
High phenylalanine, mental retardation

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11
Q

B-thalassemia

A

AR
B-globin
Hemoglobinopathy

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12
Q

Tay sachs

A

AR
HexA
Lysosomal storage disorder, GM-1

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13
Q

Glycogen storage diseases

A

AR
Several genes
Abnormal glycogen storage

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14
Q

Kartagener

A

AR
Dynein
Chronic respiratory probs

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15
Q

Wilson

A

AR
ATP7B
Copper metabolism defect

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16
Q

Friedrich ataxia

A

AR
Frataxin
Displays anticipation

17
Q

Hypophosphatemic rickets

A

XD
PHEX
Bone deformities

18
Q

Fragile X

A

XD
FMR1
Mental retardation

19
Q

Alport

A

XD
COL4A5
Kidney, hearing, vision

20
Q

Rett

A

XD
MECP2
Cognition, ataxia, hand wringing

21
Q

Hemophilia A

A

XR
Factor VIII
Blood clotting

22
Q

Hemophilia B

A

XR
Factor IX
Blood clotting

23
Q

Lesch-Nyhan

A

XR
HGPRT
Self-mutilation

24
Q

Duchenne dystrophy

A

XR
Dystrophin
Weakness and muscle loss

25
Q

Becker dystrophy

A

XR
Dystrophin
Weakness and muscle loss (mild)

26
Q

Red- green color blind

A

XR

Several genes

27
Q

G6PD

A

XR
G6PD
Hemolytic anemia

28
Q

OTC deficiency

A

XR
OTC
Hyperammonemia

29
Q

CPEO

A

Mito

30
Q

Kearns-sayre

A

Mito

31
Q

Leigh syndrome

A

Mito

32
Q

LHON

A

Mito

33
Q

MERFF

A

Mito

34
Q

MELAS

A

Mito

35
Q

Pearson

A

Mito

BIOCHEM W1 (5 decks)

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