Alstrom syndrome

Summary
Definition
A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:0050473
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7840 ALMS1 ALMS1 centrosome and basal body associated protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
236266 Alms1 ALMS1, centrosome and basal body associated

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024