Disease: Alstrom Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Alström syndrome (ALMS1, MIM 203800) is a rare, autosomal recessively inherited monogenic condition caused by mutations in the ALMS1 gene located on the short arm of chromosome 2. 19440062 2009
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Alström syndrome (ALMS) is a rare autosomal recessive condition, caused by mutations in the ALMS1 gene located on the short arm of chromosome 2. 21897446 2012
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. 22447358 2013
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Alström Syndrome (ALMS) is an extremely rare multiorgan disease caused by mutations in ALMS1. 22498418 2013
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alström Syndrome and contribute to genotype-phenotype correlation studies. 25296579 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. 28407410 2017
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. 28573831 2017
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Alström syndrome (AS), a monogenic form of obesity, is caused by recessive mutations in the centrosome- and basal body-associated gene ALMS1. 29718281 2018
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Alström syndrome (ALMS) is a very rare autosomal recessive monogenic disorder caused by a mutation in the ALMS1 gene and characterised by childhood onset obesity, dyslipidaemia, advanced non-alcoholic fatty liver disease, diabetes and extreme insulin resistance. 30477455 2018
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Alström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alström Syndrome 1) gene. 31755649 2020
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease BEFREE Alms1-/- mice develop features similar to patients with AS, including obesity, hypogonadism, hyperinsulinemia, retinal dysfunction and late-onset hearing loss. 16000322 2005
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE ALMS1 and DYSF are genetically and physically linked on chromosome 2 in a genomic region suggested by HM and associated with Alström syndrome, which includes CRD, and with limb girdle muscular dystrophy, respectively. 26077327 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE ALMS1 mutations cause Alstrom syndrome, a rare genetic disorder. 28135309 2017
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 AlteredExpression disease BEFREE ALMS1 expression (real-time PCR and immunocytochemistry) and cilia formation (immunocytochemistry) were assessed in fibroblasts from deeply phenotyped volunteers diagnosed with AS recruited from a dedicated AS Service. 28717663 2017
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease BEFREE ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits. 30421101 2019
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548 2018
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease MGD A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. 17206865 2007
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease MGD Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice. 16516152 2006
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. 26010121 2016
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease CLINGEN Alms1-disrupted mice recapitulate human Alström syndrome. 16000322 2005
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease MGD Alms1-disrupted mice recapitulate human Alström syndrome. 16000322 2005
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease CLINGEN Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. 21071598 2011
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015