Term
|
Definition
Autosomal Dominant
FGF receptor 3 defect |
|
|
Term
|
Definition
Autosomal Dominant
Mutation in PKD1
Chromosome 16 |
|
|
Term
| Familial adenomatous polyposis |
|
Definition
Autosomal Dominant
APC gene
Chromosome 5 |
|
|
Term
| Familial hypercholesterolemia (hyperlipidemia type IIA) |
|
Definition
Autosomal Dominant
Defective or absent LDL receptor |
|
|
Term
| Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
Autosomal dominant
Trinucleotide repeat (CAG)
Chromosome 4 |
|
|
Term
|
Definition
Autosomal dominant
Fibrillin-1 gene mutation |
|
|
Term
| Multiple endocrine neoplasias (MEN) |
|
Definition
Autosomal dominant
Ret gene |
|
|
Term
| Neurofibromatosis type 1 (von Recklinghausen's disease) |
|
Definition
Autosomal dominant
Chromosome 17 |
|
|
Term
|
Definition
Autosomal dominant
Incomplete penetrance |
|
|
Term
| von Hippel-Lindau disease |
|
Definition
Autosomal dominant
Deletion of VHL gene
Chromosome 3 |
|
|
Term
|
Definition
Autosomal recessive
Deficiency in tyrosinase or tyrosine transporters |
|
|
Term
|
Definition
|
|
Term
|
Definition
Autosomal recessive
CFTR gene (commonly phenylalanine deletion)
Chromosome 7 |
|
|
Term
|
Definition
|
|
Term
|
Definition
Autosomal recessive
Decreased phenylalanine hydroxylase or tetrahydrobiopterin cofactor
Tyrosine becomes essential |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Bruton's agammaglobulinemia |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
X-linked recessive
Deficient alpha-galactosidase A
Accumulated ceramide trihexoside |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Duchenne's (and Becker's) muscular dystrophy |
|
Definition
X-linked recessive
Deletion (or mutation) of dystrophin gene |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Ornithine transcarbamoylase deficiency |
|
Definition
X-linked recessive
Most common urea cycle disorder
Orotic acid in the blood and urine |
|
|
Term
|
Definition
X-linked
Trinucleotide repeat (CGG)
Affects methylation and expression of FMR1 |
|
|
Term
|
Definition
| Trinucleotide repeat (GAA) |
|
|
Term
|
Definition
| Trinucleotide repeat (CTG) |
|
|
Term
| Down syndrome (trisomy 21) |
|
Definition
Meiotic nondysjunction of homologous chromosomes
Decreased AFP, increased BHCG, decreased estriol, increased inhibin A |
|
|
Term
| Edwards' syndrome (trisomy 18) |
|
Definition
Meiotic nondysjunction
Decreased AFP, decreased BHCG, decreased estriol, normal inhibin A |
|
|
Term
| Patau's syndrome (trisomy 13) |
|
Definition
Meiotic nondysjunction
Decreased BHCG, decreased PAPP-A, increased nuchal translucency |
|
|
Term
|
Definition
| Microdeletion of short arm of chromosome 5 |
|
|
Term
|
Definition
| Microdeletion of long arm of chromosome 7 |
|
|
Term
|
Definition
| Microdeletion at chromosome 22q11 |
|
|
Term
|
Definition
Autosomal recessive
Defect in fructokinase (benign, asymptomatic) |
|
|
Term
|
Definition
Autosomal recessive
Deficiency in aldolase B |
|
|
Term
|
Definition
Autosomal recessive
Deficiency of galactokinase |
|
|
Term
|
Definition
Autosomal recessive
Absence of galactose-1-phosphate uridyltransferase |
|
|
Term
|
Definition
Autosomal recessive
Deficiency of homogentisic acid oxidase (benign disease)
Dark connective tissue, debilitating arthralgias, pigmented sclera |
|
|
Term
|
Definition
Autosomal recessive
Cystathione synthase deficiency OR decreased affinity of cystathione synthase for pyridoxal phosphate OR homocysteine methyltransferase deficiency |
|
|
Term
|
Definition
Autosomal recessive
Defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT |
|
|
Term
| Maple syrup urine disease |
|
Definition
Autosomal recessive
Blocked degradation of BRANCHED amino acids (Ile, Leu, Val) due to decreased alpha-keoacid dehydrogenase |
|
|
Term
|
Definition
Autosomal recessive
Defective neutral amino acid transporter on renal and intestinal epithelial cells
Leads to pellagra |
|
|
Term
| Von Gierke's disease (type I glycogen storage) |
|
Definition
Autosomal recessive
Deficienct glucose-6-phosphatase |
|
|
Term
| Pompe's disease (Type II glycogen storage) |
|
Definition
Autosomal recessive
Deficient lysosomal alpha-1,4-glucosidase |
|
|
Term
| Cori's disease (Type III glycogen storage) |
|
Definition
Autosomal recessive
Deficient debranching enzyme (alpha-1,6-glucosidase)
Gluconeogenesis intact |
|
|
Term
| McArdle's disease (Type V glycogen storage) |
|
Definition
Autosomal recessive
Deficient skeletal muscle glycogen phosphorylase |
|
|
Term
|
Definition
Autosomal recessive
Deficienct sphingomyelinase
Accumulated sphingomyelin
Hepatosplenomegaly |
|
|
Term
|
Definition
Autosomal recessive
Deficient glucocerebrosidase
Accumulated glucocerebroside |
|
|
Term
|
Definition
Autosomal recessive
Deficient hexosaminidase A
Accumulated GM2 ganglioside
NO hepatosplenomegaly |
|
|
Term
|
Definition
Autosomal recessive
Deficient galactocerebrosidase
Accumulated galactocerebroside |
|
|
Term
| Metachromatic leukodystrophy |
|
Definition
Autosomal recessive
Deficient Arylsulfatase A
Accumulated cerebroside sulfate |
|
|
Term
|
Definition
Autosomal recessive
Deficient alpha-L-iduronidase
Accumulated heparan sulfate, dermatan sulfate
Gargoylism, corneal clouding |
|
|
Term
|
Definition
X-linked recessive
Deficient iduronate sulfatase
Accumulated heparan sulfate, dermatan sulfate
Hurler's+AGGRESSIVE BEHAVIOR |
|
|
Term
|
Definition
Autosomal recessive
Lipoprotein lipase deficiency or altered apolipoprotein C-II
NO ATHEROSCLEROSIS RISK |
|
|
Term
|
Definition
Autosomal dominant
Hepatic overproduction of VLDL
Causes pancreatitis |
|
|
Term
|
Definition
Autosomal recessive
Mutated microsomal triglyceride transfer protein (MTP)
Decreased chylomicron and VLDL synthesis and secretion |
|
|
