Genetic Disorders (inheritance + defects) Flashcards
Polycystic kidney disease
Can be both AR and AD;
AD:85% mut in PKD1; 15% mut in PKD2
Cystic fibrosis
AR:
Defective CFTR on ch.7
Familial adenomatous polyposis
AD:
Mut APC gene on ch.5q
Bruton agammaglobulinemia
XLR:
Defect in BTK tyrosine kinase gene
Albinism
AR:
Impaired tyrosinase activity or tyrosine transport, or impaired NC migration
Wiskott-Aldrich syndrome
XLR:
Mut in WAS gene
Glycogen storage diseases
AR
Hemochromatosis
AR:
C282Y or H63D mut on HFE gene
Familial hypercholesterolemia
AD:
Defective/absent LDL receptor
Hereditary hemorrhagic telangiectasia (aka Osler-Weber-Rendu)
AD:
Blood vessel disorder
Fabry disease
XLR:
alpha-galactosidase A deficiency
G6PD deficiency
XLR:
Defect in G6PD, duh.
Kartagener syndrome
AR:
Dynein arm defect
Hurler syndrome
AR:
alpha-L-iduronidase deficiency
Ocular albinism
XLR
Lesch-Nyhan syndrome
XLR:
Absent HGPRT
Hereditary spherocytosis
AD:
Spectrin or ankyrin defect
Huntington disease
AD:
CAG repeat on ch.4 –> hungtingtin mut
Marfan syndrome
AD:
Mut of fibrillin-1
Phenylketonuria (PKU)
AR:
Deficient phenylalanine hydroxylase or tetrahydrobiopterin cofactor
Sickle cell anemia
AR:
Glu–>Val at position 6 in Beta chain
Duchenne muscular dystrophy
XLR
Frameshift mut in dystrophin gene
Becker muscular dystrophy
XLR
Point mut in dystrophin gene
Neurofibromatosis type 1
AD:
Mut in NF1 gene on ch.17
Neurofibromatosis type 2
AD:
Mut in NF2 gene on ch.22
Hunter syndrome
XLR:
Iduronate sulfatase deficiency
Hemophilia A
XLR:
Factor VIII deficiency
Hemophilia B
XLR:
Factor IX deficiency
Ornithine trancarbamylase deficiency
XLR
Sphingolipidoses (Gaucher, Niemann-Pick, Tay-Sachs, Krabbe, Metachromatic leukodystrophy)
AR (except Fabry disease which is XLR)
Thalassemias
AR
Wilson disease
AR:
Defect in ATP7B gene on ch.13
Tuberous sclerosis
AD with incomplete penetrance + variable expression
von Hippel-Lindau disease
AD:
Deletion of VHL gene on ch.3
Fragile X syndrome
XLD:
CGG repeat –> FMRP mut
Myotonic dystrophy
AD:
CTG repeat –> expanded DMPK gene
Friedreich ataxia
AR:
GAA repeat –> FXN mut
Achondroplasia
Sporadic or AD:
FGFR3 activation
von Willebrand disease
AD:
Deficient vWF
Sideroblastic anemia
XL (most common):
Mut in delta-ALA synthase gene
Hereditary nonpolyposis colorectal cancer (HNPCC/Lynch syndrome)
AD:
Mut of DNA mismatch repair genes
Peutz-Jeghers syndrome
AD
MEN syndromes
AD:
ret gene mutation in Men2A and Men2B
SCID
XL (most common): defective IL-2R gamma chain
AR: adenosine deaminase deficiency
Hyper-IgM syndrome
XLR:
Defective CD40L on Th cells
Chronic granulomatous disease
XLR:
Defective NADPH oxidase
Hyperchylomicronemia(type 1)
AR:
Lipoprotein lipase deficiency or altered APOC-II
Hypertriglyceridemia (type 4)
AD:
Hepatic overproduction of VLDL
Cystinuria
AR:
Defect of PCT and aa transporter for cysteine, ornithine, lysine, and arginine
Hypophosphatemic rickets
XLD:
increased phosphate wasting at proximal tubule
Mitochondrial myopathies
Mitochondrial inheritance, duh.
Failure in oxidative phosphorylation
Fructose metabolism disorders
AR
