| PSEN1 mutation | Mutations (more than 60 different) in PSEN1 are associated with Alzheimer's disease, of which all result in increased production of abnormally long amyloid beta-protein and an increase in senile plaque formation [10934557]. | Human | — | — | — |
| BLM mutation | BLM mutation cuases Bloom syndrom. Individuals with Bloom syndrome have a shortend life expectancy []. Death is primary due to cancer, particulary leukemia and lymphoma [German, 1992]. Bloom syndrome is not a premature aging disease. Bloom syndrome characteristics are grwoth deficiency, sun-snesitivity, telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability [5770175]. | Human | — | — | — |
| ERCC8 mutation | Individuals with a mutation in ERCC8 (alias CKN1) have a shortened lifespan, short stature, precociously senile appearance, retinal degeneration, optic atrophy, sensitivity to sunlight, and mental retardation [14156156]. Hypertension and renal disease are also common in ERCC8 mutants [514720]. | Human | — | — | — |
| UCHL1 mutation | UCHL1 is assoicated with Parkinson's disease [9774100]. UCHL1 belongs to a family of de-ubiquitinating enzymes responsible for the hydrolysis of bonds between ubiquitin molecules and small adducts [11084366]. Decreased activity due to mutation may result in decreased labeling of abnormal proteins for clearance. | Human | — | — | — |
| Homozygous GH1 deletion | Mean lifespan in untreated, affected individuals homozyogus for a deletion at the GH1 locus is significantly shorter (P < 0.05) than in affected siblings or the general population. Individuals homozygous for GH1 deletion demonstrate hereditary dwarfism [12915652]. | Human | — | — | — |
| ATM mutation | Individuals with ataxia-telangiectasia (AT) have a decreased lifespan, with a maximum of 52 years [3864931]. | Human | — | — | — |
GenAge
GenDR
