Alstrom syndrome: genes and variants
Alstrom syndrome is linked to 1 analyzed protein (ALMS1). 4 DNA variants are known to cause it; 1,888 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Alstrom syndrome
ALMS1: Centrosome-associated protein ALMS1
It contributes to primary-cilium function, intracellular trafficking, and metabolic homeostasis in multiple tissues. Biallelic pathogenic variants cause Alstrom syndrome, which typically combines retinal degeneration, hearing loss, obesity, insulin resistance, and cardiomyopathy.
4 disease-causing and 1,888 uncertain variants in ALMS1 are linked to Alstrom syndrome.
Known disease-causing variants in Alstrom syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ALMS1 R3606W | 3606 | Disease-causing (★★) | |
| ALMS1 M1L | 1 | Disease-causing (★) | |
| ALMS1 H1155Y | 1155 | 13 | Disease-causing (★) |
| ALMS1 S1895C | 1895 | 29 | Disease-causing (★) |
Diseases related to Alstrom syndrome
- Retinitis pigmentosa, also linked to ALMS1
- Monogenic diabetes, also linked to ALMS1
- Leber congenital amaurosis, also linked to ALMS1
- Bardet-Biedl syndrome, also linked to ALMS1
Frequently asked questions
Which genes are linked to Alstrom syndrome?
In CATVariant, Alstrom syndrome is linked to 1 analyzed protein: ALMS1 (Centrosome-associated protein ALMS1).
How many genetic variants are linked to Alstrom syndrome?
2,025 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1,888 are of uncertain significance or have conflicting reports.
Which uncertain variants in Alstrom syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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