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ALMS1 and retinal dystrophy 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
Retinal dystrophy
- HPO
- HP:0000556
121articles
121mentions
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 60Unique 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 | retinal dystrophy | “Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| 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 |
| 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 |
Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene.
PMID 30488743 | DOI 10.1080/13816810.2018.1551495 · Ophthalmic genetics · 2019 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALMS1 | “Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene.” | 0.98 | phenotype_alias_lexicon_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 | retinal dystrophy | “Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.” | 0.98 | 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 | Leber congenital amaurosis | “UNLABELLED: To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |