Alstrom syndrome (OMIM 203800): a case report and literature review
Orphanet Journal of Rare Diseases, 2007 Background Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss.
Hegele Robert A +6 more
doaj +1 more source
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. [PDF]
, 2016 Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity.
Andréasson, S. +26 more
core +2 more sources
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]
Diabetes & Metabolism Journal, 2015 BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim +6 more
doaj +1 more source
The molecular basis of human retinal and vitreoretinal diseases [PDF]
, 2010 During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W +2 more
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Unique phenotypic–genotypic correlation in Saudi patients with ALMS1 mutations
Saudi Journal of Ophthalmology, 2023 Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome. This report illustrates the unique pattern of ALMS1-associated diseases in a set of three simplex Saudi patients originating from unrelated ...
B. Almoallem
semanticscholar +1 more source
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome [PDF]
, 2016 Background: Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion.
Aymé, Ségolène +13 more
core +1 more source
Role of Alström syndrome 1 (ALMS1) in the regulation of glomerular hemodynamics.
AJP - Renal Physiology, 2023 Inactivating mutations in the ALMS1 gene in humans cause Alström syndrome, characterized by the early onset of obesity, insulin resistance, and renal dysfunction. However, the role of ALMS1 in renal function and hemodynamics is unclear.
Sumit R Monu +4 more
semanticscholar +1 more source
Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population [PDF]
, 2018 Genome-wide association studies (GWAS) have identified dozens of common genetic variants associated with risk of colorectal cancer (CRC). However, the majority of CRC heritability remains unclear.
A Forsberg +66 more
core +2 more sources
HCM-associated ALMS1 variant: Allele drop-out and frequency in Italian Sphynx cats.
Animal Genetics, 2023 Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy in domestic cats, and some inherited variants are available for genetic testing. A variant of the Alstrom syndrome protein 1 gene (ALMS1) was recently reported to be associated with HCM ...
M. Turba +4 more
semanticscholar +1 more source
Mesenchymal-specific Alms1 knockout in mice recapitulates key metabolic features of Alström Syndrome
bioRxiv, 2023 Background Alström Syndrome (AS), a multi-system disease caused by mutations in the ALMS1 gene, includes obesity with disproportionately severe insulin resistant diabetes, dyslipidemia, and hepatosteatosis.
Eleanor J. McKay +8 more
semanticscholar +1 more source