| Question |
Answer |
Gene |
| APKD |
AD |
APKD1 (chromosome 16) |
| Familial adenomatous polyposis |
AD |
APC (chromosome 5) |
| Familial hypercholesterolemia (aka ___) |
AD (hyperlipidemia type IIa) |
LDL receptor |
| Hereditary hemorrhagic telangiectasia (aka ___) |
AD Oseler-Weber-Rendu) |
|
| Hereditary spherocytosis |
AD |
|
| Huntington's |
AD |
CAG repeat (chromosome 4) |
| Marfan's syndrome |
AD |
Fibrillin 1 |
| MEN |
AD |
II, III = ret |
| Neurofibramatosis I (aka ___) |
AD von Recklinghousen's disease |
chromosome 17 |
| Neurofibramatosis type 2 |
AD |
NF2 gene (chromosome 22) |
| Tuberous sclerosis |
AD |
|
| von Hippel Lindau |
AD |
VHL (Chromosome 3) |
| Albinsim (locus heterogeneity) |
AR |
|
| Infantile polcystic kidney disease |
AR |
|
| Cystic fibrosis |
AR |
CFTR gene (Phe 508), (Chromosome 7) |
| Glycogen storage disease |
AR |
|
| Hemochromatosis |
AR |
|
| mucopolysaccharidoses (except ___) |
AR, Hunter's |
|
| phenylketonuria |
AR |
|
| sickle cell anemias |
AR |
|
| Sphingolipidoses (except ___) |
AR (Fabry's) |
|
| Thalassemias |
AR |
|
| Bruton's agammaglobulinemia |
X |
|
| Fragile X |
X |
FMR1 gene (CGC) repeat |
| G6PD deficiency |
X |
|
| Ocular albinism |
X |
|
| Lesh-Nyhan syndrome |
X |
|
| Duchenne's/Becker's |
X |
Duchenne's = DMD deleted dystrophin |
| Hemophilia A/B |
X |
|
| Fabry's Disease |
X
|
|
| Hunter's Syndrome |
X |
|
| Myotonic dystrophy |
trinucleotide repeat |
CTG |
| Friedrich's Ataxia |
trinucleotide repeat |
(GAA) |
| Hypophasphatemic rickets |
X-linked dominant (all female offspring of the affected father are diseased) |
|
| Leber's hereditary optic neuropathy |
Mitochondrial inheritance |
|
| Achondroplasia |
AD |
FGF 3 |
Science Vocab 147928
