Amish, Mennonite, and Hutterite
Genetic Disorder Database

Alström Syndrome

Disorder
OMIM #: #203800  (Click to access OMIM database)
Disorder: Alström Syndrome 
Also known as: ALMS, ALSS 
Clinical
Phenotype: retinal pigmentation, hearing impairment, overgrowth, type II diabetes mellitus, hyperlipidemia, acanthosis nigricans, photophobia, nystagmus, splenomegaly, hepatomegaly, jaundice 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: ALMS1
Base Change: C>T, at nucleotide 10480
Amino Acid Change: p.Q3494*
Last updated: 2017-06-08 

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-Macías 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 

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