Ontology highlight
ABSTRACT:
SUBMITTER: Tahani N
PROVIDER: S-EPMC7504843 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Tahani Natascia N Maffei Pietro P Dollfus Hélène H Paisey Richard R Valverde Diana D Milan Gabriella G Han Joan C JC Favaretto Francesca F Madathil Shyam C SC Dawson Charlotte C Armstrong Matthew J MJ Warfield Adrian T AT Düzenli Selma S Francomano Clair A CA Gunay-Aygun Meral M Dassie Francesca F Marion Vincent V Valenti Marina M Leeson-Beevers Kerry K Chivers Ann A Steeds Richard R Barrett Timothy T Geberhiwot Tarekegn T
Orphanet journal of rare diseases 20200921 1
Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturbance, hearing impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, accelerated non-alcoholic fatty liver disease (NAFLD), renal dysfunction, respiratory disease, endocrine and urologic disorders. Clinical symptoms first appear in infancy w ...[more]