Term
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Definition
| paternal imprinting on chromosome 15 |
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Term
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Definition
| maternal imprinting on chromosome 15 |
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Term
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Definition
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Term
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Definition
heteroplasmy (mitochondrial inheritance)
-raged red fibers |
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Term
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Definition
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Term
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Definition
AD
PKD1 mutation on chromo 16 |
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Term
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Definition
AD
APC mutation on chromo 5 |
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Term
Familiar hypercholesterolemia
(Familial dyslipidemia type IIa) |
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Definition
AD
defective or absent LEL receptor |
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Term
| Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) |
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Definition
AD
disorder of blood vessels - telangiectasia, recurrent epistaxis, skin discolorations, AVMs |
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Term
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Definition
AD
spectrin or ankyrin defect |
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Term
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Definition
AD
trnucleotide repeat (CAG) on chromo 4 |
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Term
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Definition
AD
Fibrillin-1 gene mutation |
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Term
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Definition
AD
ret mutation with 2A and 2B |
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Term
|
Definition
AD
incomplete penetrance, variable presentation
facial adenoma sebaceum, ash leaf spots, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and angiomyolipomas, cardiac rhabdomyomas, inc incidence of astrocytomas |
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Term
| von Hippel-Lindau disease |
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Definition
AD
deletion of VHL gene on chromo 3p
hemangioblastomas of retina/cerebellum/medulla, multiple bilateral renal cell carcinomas |
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Term
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Definition
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Term
| ARPKD (infantile polycystic kidney disease) |
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Definition
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Term
|
Definition
AR
defect in CFTR gene on chromo 7, commonly deletion of Phe on chromo 508 |
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Term
| Glycogen storage diseases |
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Definition
AR
eg - von Gierke's, Pompe's, Cori's, McArdle's |
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Term
|
Definition
AR
cirrhosis, DM, skin pigmentation |
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Term
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Definition
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Term
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Definition
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Term
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Definition
AR
substituion of glutamic acid with valine at position 6 |
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Term
|
Definition
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Term
|
Definition
AR
dec gene synthesis
a - Asian and African pops
B - Mediterranean pops |
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Term
| Bruton's agammaglobulinemia |
|
Definition
x-linked recessive
BTK gene mutation causes defective tyrosine kinase, inappropriate maturation of B cells |
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Term
|
Definition
x-linked recessive
WAS gene muta - thrombocytopenic purpura, infections, eczema |
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Term
|
Definition
x-linked recessive
deficient a-galactosidase A leads to accumulation of ceramide trihexoside |
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Term
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Definition
x-linked recessive
dec HGPRT, leads to excess uric acid production and de novo purine synthesis |
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Term
| Duchenne's (and Becker's) MD |
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Definition
x-linked recessive
DMD gene frameshift mutation |
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Term
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Definition
x-linked recessive
mild Hurler's + aggressive behavior
deficiency of iduronate sulfatase causes accumulation of heparan sulfate, dermatan sulfate |
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Term
|
Definition
x-linked recessive
A - deficiency of factor VIII
B - deficiency of factor IX |
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Term
| Ornithine transcarbamoylase deficiency |
|
Definition
x-linked recessive
cannot eliminate ammonia |
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Term
|
Definition
x-linked trinucleotide repeat (CGG)
FMR1 gene mutation |
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
trisomy 21
inc risk of ALL and Alzheimer's diease
dec a-FP, inc B-hCG, dec estriol, inc inhibin A |
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Term
|
Definition
trisomy 18
dec a-FP, dec B-hCG, dec estriol, normal inhibin A |
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Term
|
Definition
trisomy 13
dec free B-hCG, dec PAPP-A, inc nuchal translucency |
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Term
|
Definition
| microdeletion of short arm of chromo 5 |
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Term
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Definition
| microdeletion of long arm of chromo 7 (includes elasin gene) |
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Term
|
Definition
22q11 deletion - aberrant dev of 3rd and 4th branchial pouches
thymic, parathyroid, cardiac defects |
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Term
| Velocardiofacial syndrome |
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Definition
22q11 deletion - aberrant dev of 3rd and 4th branchial pouches
palate, facial, cardiac defects |
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Term
|
Definition
x-linked recessive
hemolytic anemia caused by fava beans, sulfonamides, primaquine, antituberculosis drugs, infection |
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
|
Definition
AR
absent galactose-1-phosphate uridyltransferase |
|
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Term
| Alkaptonuria (ochronosis) |
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Definition
AR
defic homogentisic acid oxidase (degrades tyrosine to fumarate)
pee turns black with prolonged exposure to air |
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Term
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Definition
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Term
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Definition
AR
defect of renal tubular amino acid transporter |
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Term
Hypertriglyceridemeia
(Familial dyslipidemia type IV) |
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Definition
AD
hepatic overproduciton of VLDL |
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Term
Hyperchylomicronemia
(Familial dyslipidemia type IV) |
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Definition
AR
lipoprotein lipase deficiency or altered apolipoprotein C-II |
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Term
|
Definition
AR
mutation in MTP gene causes dec B48 and B100 - dec chylomicron and VLDL synthesis and secretion
failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness |
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