Disease Genes, chromosomes, inheritance patterns Flashcards
Marfan
AD
general rule: AD=adult onset & structural problem
Albinism
AR
general rule: AR=childhood onset & enzyme problem
ARPKD
AR
general rule: AR=childhood onset & enzyme problem
von Hippel-Lindau
AD
Hemophilia A and B (FVIII and FIX def)
XLR
“Be Wise, Fool’s GOLD Heeds Silly HOpe”
Osteogenesis Imperfecta
AD
(may resemble child abuse from a Dominant parent)
sickle cell
AR
general rule: AR=childhood onset & enzyme problem
Hereditary Spherocytosis
AD
tx = splenectomy
general rule: AD=adult onset & structural problem
Kartagener’s
AR
Wilson
AR
general rule: AR=childhood onset & enzyme problem
Duchenne (and Becker)
XLR
“Be Wise, Fool’s GOLD Heeds Silly HOpe”
Bruton agammaglobulinemia (hyper-IgM)
XLR
“Be Wise, Fool’s GOLD Heeds Silly HOpe”
Myotonic Type 1 muscular dystrophy
AD
(unlike Duchenne/Becker musc dystrophies: XLR)
Most common adult-onset muscular dystrophy. CTG repeat.
glycogen storage diseases
AR
general rule: AR=childhood onset & enzyme problem
thalassemias
AR
Leber Hereditary Optic Neuropathy
mitochondrial
Tuberous Sclerosis
AD
general rule: AD=adult onset & structural problem
sphingolipidoses (except Fabry)
AR
Lesch-Nyhan
XLR
“Be Wise, Fool’s GOLD Heeds Silly HOpe”
Multiple Endocrine Neoplasia (MEN)
AD
general rule: AD=adult onset & structural problem
Fabry
XLR
“Be Wise, Fool’s GOLD Heeds Silly HOpe”
Hereditary hemorrhagic telangiectasia
AD
general rule: AD=adult onset & structural problem
Familial adenomatous polyposis
AD
mutation on chromo 5 “POLYP”
uses wnt pathway
general rule: AD=adult onset & structural problem
hemochromatosis
AR
general rule: AR=childhood onset & enzyme problem
Huntington
AD
general rule: AD=adult onset & structural problem
Hunter Syndrome
XLR
“Be Wise, Fool’s GOLD Heeds Silly HOpe”
Ornithine Transcarbamylase def
XLR
“Be Wise, Fool’s GOLD Heeds Silly HOpe”
(most common Urea cycle deficiency; causes hyper-ammonemia and incr Carbamoyl Phosphate)
phenylketonuria
AR
Familial Hypercholesteremia
AD
general rule: AD=adult onset & structural problem
ADPKD
AD (Autosomal Dom Polycystic Kidney Disease!)
85% of mut on chromosome 16: 16 letters in “polycystic kidney”
general rule: AD=adult onset & structural problem
MERFF (ragged red fibers)
mitochondrial
Ocular albinism
XLR
“Be Wise, Fool’s GOLD Heeds Silly HOpe”
Cystic Fibrosis
AR
Neurofibromatosis Types I and II
AD
general rule: AD=adult onset & structural problem
mucopolysaccharidoses (except Hunter)
AR
general rule: AR=childhood onset & enzyme problem
Wiscott Aldrich
XLR
“Be Wise, Fool’s GOLD Heeds Silly HOpe”
G6PD deficiency
XLR
“Be Wise, Fool’s GOLD Heeds Silly HOpe”
Achondroplasia
AD/sporadic, related to advanced paternal age
(remember it is a activating mutation of FGFR3)
