Alström Syndrome
| Disorder | |
|---|---|
| OMIM #: | #203800 (Click to access OMIM database) |
| Disorder: | Alström Syndrome |
| Also known as: | ALMS, ALSS |
| Clinical | |
| Phenotype: | short stature, hearing impairment, overgrowth, type II diabetes mellitus, hyperlipidemia, acanthosis nigricans, alopecia, photophobia, nystagmus, blindness, hyperopia, retinitis pigments, cataracts , teeth anomalies, cardiomyopathy, hypertension, asthma, splenomegaly, nephritis, hepatitis, hepatomegaly |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | ALMS1 |
| Base Change: | C>T, at nucleotide 10480 |
| Amino Acid Change: | p.Q3494* |
| Last updated: | 2024-02-16 |
| References |
|---|
| Connolly MB, Jan JE, Couch RM, Wong LT, Dimmick JE, and Rigg JM. (1991) Hepatic dysfunction in Alström disease. Am J Hum Genet 40(4): 421-424. PubMed ID: 1746604 |
| Cruz-Aguilar M, Galaviz-Hernández C, Hiebert-Froese J, Sosa-MacĂas M, Zenteno JC. (2017) A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico. Genet Test Mol Biomarkers Jun;21(6):397-401. PubMed ID: 28402684 |
| Marshall JD, Maffei P, Collin GB, Naggert JK. (2011) Alström syndrome: genetics and clinical overview. Currently Genomics 12(3):225-35. PubMed ID: 22043170 |
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