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ALMS1 and obesity are reported together in 3 articles.
Gene
ALMS1
- HGNC
- HGNC:428
10articles
10mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Alstrom syndrome 7cardiomyopathy 4diabetes mellitus 4hearing loss 3obesity 3retinal dystrophy 3Leber congenital amaurosis 2renal failure 2
Reported variants (articles · ClinVar status)
Phenotype
Obesity
- HPO
- HP:0001513
856articles
856mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
3 records shown · first 60Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.
PMID 38883102 | PMCID PMC11179030 | DOI 10.7759/cureus.60396 · Cureus · 2024 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALMS1 | “Genetic alterations in the ALMS1 gene are the cause of Alström syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of this disorder in children.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of this disorder in children.” | 0.98 | phenotype_alias_lexicon_v2 |
Alstrom's Syndrome: An Experience of Tertiary Care Center.
PMID 38721579 | PMCID PMC11076086 | DOI 10.1055/s-0041-1740369 · Journal of pediatric genetics · 2024 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALMS1 | “Biallelic pathogenic variants in ALMS1 gene cause AS.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “It is characterized by poor vision, hearing impairment, cardiomyopathy, childhood obesity, diabetes mellitus type 2, dyslipidemia, pulmonary, hepatic, and renal failure besides systemic fibrosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “It is characterized by poor vision, hearing impairment, cardiomyopathy, childhood obesity, diabetes mellitus type 2, dyslipidemia, pulmonary, hepatic, and renal failure besides systemic fibrosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “It is characterized by poor vision, hearing impairment, cardiomyopathy, childhood obesity, diabetes mellitus type 2, dyslipidemia, pulmonary, hepatic, and renal failure besides systemic fibrosis.” | 0.98 | phenotype_alias_lexicon_v2 |
Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.
PMID 37937857 | PMCID PMC10767606 | DOI 10.1002/mgg3.2314 · Molecular genetics & genomic medicine · 2024 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALMS1 | “Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “BACKGROUND: Alström syndrome (AS) represents an exceptionally rare genetic disorder characterized by a constellation of features including cardiomyopathy, progressive hearing and vision impairment, as well as obesity.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “BACKGROUND: Alström syndrome (AS) represents an exceptionally rare genetic disorder characterized by a constellation of features including cardiomyopathy, progressive hearing and vision impairment, as well as obesity.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Alstrom syndrome | “Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.” | 0.93 | phenotype_alias_lexicon_v2 |