All Diseases Flashcards
Huntington
Autosomal dominant
HD gene
Mental retardation, neuro symptoms
Achondroplasia
Autosomal dominant
FGFR-3
Dwarfism
NF1 or 2
Autosomal dominant
NF1/NF2
Café au lait, neurofibromas
Marfan
Autosomal dominant
FBN1 (fibrillin)
Tall stature, long slender fingers
Familial hypercholesterolemia
Autosomal dominant
LDL receptor
Elevated cholesterol
Hurler
A.R.
a-L-iduronidase
Lysosomal storage disorder
Hereditary hemochromatosis
AR
HFE
Iron overload
Cystic fibrosis
AR
CFTR
Mucus buildup, sodium transport channel
Sickle Cell
AR
B-globin
Anemia
PKU
AR
Phenylalanine hydroxase
High phenylalanine, mental retardation
B-thalassemia
AR
B-globin
Hemoglobinopathy
Tay sachs
AR
HexA
Lysosomal storage disorder, GM-1
Glycogen storage diseases
AR
Several genes
Abnormal glycogen storage
Kartagener
AR
Dynein
Chronic respiratory probs
Wilson
AR
ATP7B
Copper metabolism defect
Friedrich ataxia
AR
Frataxin
Displays anticipation
Hypophosphatemic rickets
XD
PHEX
Bone deformities
Fragile X
XD
FMR1
Mental retardation
Alport
XD
COL4A5
Kidney, hearing, vision
Rett
XD
MECP2
Cognition, ataxia, hand wringing
Hemophilia A
XR
Factor VIII
Blood clotting
Hemophilia B
XR
Factor IX
Blood clotting
Lesch-Nyhan
XR
HGPRT
Self-mutilation
Duchenne dystrophy
XR
Dystrophin
Weakness and muscle loss
Becker dystrophy
XR
Dystrophin
Weakness and muscle loss (mild)
Red- green color blind
XR
Several genes
G6PD
XR
G6PD
Hemolytic anemia
OTC deficiency
XR
OTC
Hyperammonemia
CPEO
Mito
Kearns-sayre
Mito
Leigh syndrome
Mito
LHON
Mito
MERFF
Mito
MELAS
Mito
Pearson
Mito
