Gene: ALMS1

Alternate names for this Gene: ALSS

Gene Summary: This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.1

Description of this Gene: ALMS1 centrosome and basal body associated protein

Type of Gene: protein-coding

rs35273932 in ALMS1 gene and Age at menarche PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs1034630858 in ALMS1 gene and Alstrom Syndrome PMID 11941370 2002 Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

PMID 17594715 2007 Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

PMID 11941369 2002 Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.

PMID 22876109 2012 Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

PMID 22555271 2012 Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

PMID 21157496 2011 Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

PMID 25846608 2015 Alström Syndrome: Mutation Spectrum of ALMS1.

PMID 26992781 2016 Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

PMID 22773737 2012 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

PMID 29079548 2018 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.

PMID 26047050 2015 Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

PMID 26010121 2016 ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.

PMID 24462884 2014 Modification of severe insulin resistant diabetes in response to lifestyle changes in Alström syndrome.

PMID 26104972 2015 Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study.

PMID 16720663 2006 Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

PMID 28432734 2017 Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

PMID 26283575 2016 Genetic evaluation of patients with Alström syndrome in the Polish population.

PMID 27665122 2018 Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity.

PMID 18038714 2007 Effect of metformin and rosiglitazone in a prepubertal boy with Alström syndrome.

PMID 15689433 2005 The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy.

PMID 22447358 2013 Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.

PMID 25706677 2015 Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy.

PMID 25296579 2015 The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

rs6546837 in ALMS1 gene and Chronic Kidney Diseases PMID 21931561 2011 Genetic association for renal traits among participants of African ancestry reveals new loci for renal function.

rs4500972 in ALMS1 gene and Creatinine measurement, serum (procedure) PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs111770942 in ALMS1 gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 27588450 2016 Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.

rs13391552 in ALMS1 gene and Glucose measurement PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs34183407 in ALMS1 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10193972 in ALMS1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs34183407 in ALMS1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1553403917 in ALMS1 gene and Mild short stature PMID 29079548 2018 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.

rs1553403917 in ALMS1 gene and Obesity PMID 29079548 2018 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.

rs1553403917 in ALMS1 gene and Progressive sensorineural hearing impairment PMID 29079548 2018 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.

rs56145559 in ALMS1 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs1553403917 in ALMS1 gene and Scoliosis, unspecified PMID 29079548 2018 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.

rs34183407 in ALMS1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs34183407 in ALMS1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs9309473 in ALMS1 gene and Serum albumin measurement PMID 21931564 2011 A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.

rs34183407 in ALMS1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1553403917 in ALMS1 gene and Steatohepatitis PMID 29079548 2018 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.

rs34183407 in ALMS1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs13391552 in ALMS1 gene and elevated blood glucose level PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs6546856 in ALMS1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

rs1553403917 in ALMS1 gene and obsolete Rod-cone dystrophy PMID 29079548 2018 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.