All Diseases

Question 1

Huntington

Answer 1

Autosomal dominant
HD gene
Mental retardation, neuro symptoms

Question 2

Achondroplasia

Answer 2

Autosomal dominant
FGFR-3
Dwarfism

Question 3

NF1 or 2

Answer 3

Autosomal dominant
NF1/NF2
Café au lait, neurofibromas

Question 4

Marfan

Answer 4

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

Question 5

Familial hypercholesterolemia

Answer 5

Autosomal dominant
LDL receptor
Elevated cholesterol

Question 6

Hurler

Answer 6

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

Question 7

Hereditary hemochromatosis

Answer 7

AR
HFE
Iron overload

Question 8

Cystic fibrosis

Answer 8

AR
CFTR
Mucus buildup, sodium transport channel

Question 9

Sickle Cell

Answer 9

AR
B-globin
Anemia

Question 10

PKU

Answer 10

AR
Phenylalanine hydroxase
High phenylalanine, mental retardation

Question 11

B-thalassemia

Answer 11

AR
B-globin
Hemoglobinopathy

Question 12

Tay sachs

Answer 12

AR
HexA
Lysosomal storage disorder, GM-1

Question 13

Glycogen storage diseases

Answer 13

AR
Several genes
Abnormal glycogen storage

Question 14

Kartagener

Answer 14

AR
Dynein
Chronic respiratory probs

Question 15

Wilson

Answer 15

AR
ATP7B
Copper metabolism defect

Question 16

Friedrich ataxia

Answer 16

AR
Frataxin
Displays anticipation

Question 17

Hypophosphatemic rickets

Answer 17

XD
PHEX
Bone deformities

Question 18

Fragile X

Answer 18

XD
FMR1
Mental retardation

Question 19

Alport

Answer 19

XD
COL4A5
Kidney, hearing, vision

Question 20

Rett

Answer 20

XD
MECP2
Cognition, ataxia, hand wringing

Question 21

Hemophilia A

Answer 21

XR
Factor VIII
Blood clotting

Question 22

Hemophilia B

Answer 22

XR
Factor IX
Blood clotting

Question 23

Lesch-Nyhan

Answer 23

XR
HGPRT
Self-mutilation

Question 24

Duchenne dystrophy

Answer 24

XR
Dystrophin
Weakness and muscle loss

Question 25

Becker dystrophy

Answer 25

XR Dystrophin Weakness and muscle loss (mild)

Question 26

Red- green color blind

Answer 26

XR | Several genes

Question 27

G6PD

Answer 27

XR G6PD Hemolytic anemia

Question 28

OTC deficiency

Answer 28

XR OTC Hyperammonemia

Question 29

CPEO

Answer 29

Mito

Question 30

Kearns-sayre

Answer 30

Mito

Question 31

Leigh syndrome

Answer 31

Mito

Question 32

LHON

Answer 32

Mito

Question 33

MERFF

Answer 33

Mito

Question 34

MELAS

Answer 34

Mito

Question 35

Pearson

Answer 35

Mito