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ALMS1 and Alstrom syndrome are reported together in 7 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
Alstrom syndrome
14articles
14mentions
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
7 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 | Alstrom syndrome | “Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.” | 0.93 | 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 |
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 | Alstrom syndrome | “Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.” | 0.93 | 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 | 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 |
Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.
PMID 38155680 | PMCID PMC10752272 | DOI 10.4103/sjopt.sjopt_129_22 · Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2023 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALMS1 | “Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alstrom syndrome | “Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Riyadh | “Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations. This report illustrates the unique pattern of ALMS1-associated diseases in a set of three simplex Saudi patients originating from unrelated consanguineous families. A detailed ophthalmological assessment was performed at the Department of Ophthalmology at King Saud University, Riyadh, Saudi Arabia. As a result, three distinct pathogenic ALMS1 mutations were identified; the first one is a nonsense mutation (c.8158C>T: p.R2720X) which has recently been identified in a Chinese patient, while the other two are known to have a founder effect in the Saudi population (the frameshift: C.848dupA: p.E283fs and the splicing: C.11870-2A>T: p.?). Thus far, our report expands the phenotypic-genotypic spectrum of ALMS1-associated diseases and supports the principles of applying precision medicine in Saudi Arabia by utilizing the fact that common founder mutations were identified and unique phenotype was observed.” | 0.95 | saudi_context_rules_v1 |
Alström Syndrome: A Rare Cause of Severe Insulin Resistance.
PMID 37908279 | PMCID PMC10578372 | DOI 10.1210/jcemcr/luac012 · JCEM case reports · 2023 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALMS1 | “Genetic testing revealed a mutation in the ALMS1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alstrom syndrome | “Alström Syndrome: A Rare Cause of Severe Insulin Resistance.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “Diabetes mellitus is one of the most common diseases worldwide and is a major cause of morbidity and mortality.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hearing loss | “Affected individuals will usually have insulin-resistant diabetes by a young age and associated blindness and deafness.” | 0.93 | phenotype_alias_lexicon_v2 |
Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.
PMID 33981653 | PMCID PMC8107379 | DOI 10.3389/fped.2021.652011 · Frontiers in pediatrics · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALMS1 | “Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alstrom syndrome | “Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | hearing loss | “Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness.” | 0.98 | phenotype_alias_lexicon_v2 |
Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.
PMID 31889847 | PMCID PMC6933154 | DOI 10.1016/j.sjbs.2019.09.006 · Saudi journal of biological sciences · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALMS1 | “Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alstrom syndrome | “Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “The clinical and molecular basis of AS and the mode of disease inheritance in consanguineous Arab populations is not well investigated. Therefore, to identify the molecular basis of AS in familial forms, the present study performed whole exome sequencing of 5 AS patients belonging to 2 different Bedouin families from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | T376S | “The present study identified the AS causative rare biallelic mutations in ALMS gene:T376S in exon 5 and S909* in exon 8 for family A and an R2721* in exon 10 (R2721*) for family B.” | 0.82 | literature_variant_regex_v2 |
Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.
PMID 26957854 | PMCID PMC4759893 | DOI 10.4103/0974-9233.171779 · Middle East African journal of ophthalmology · 2016 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALMS1 | “Mutation screening of candidates genes revealed a pathogenic mutation in ALMS1 gene (c.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alstrom syndrome | “UNLABELLED: To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | GUCY2D | “Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |