Alstrom syndrome
Findings
No curated finding names Alstrom syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0008763), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
125 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- Elevated hemoglobin A1cHPOHP:0040217
- 1 of 1 reported patient
- HyperglycemiaHPOHP:0003074
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Show the remaining 113
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- Insulin resistanceHPO · MondoHP:0000855
- Very frequent (80% to 99% of cases)
- Otitis mediaHPOHP:0000388
- Very frequent (80% to 99% of cases)
- Progressive sensorineural hearing impairmentHPOHP:0000408
- Very frequent (80% to 99% of cases)
- Retinal dystrophyHPO · MondoHP:0000556
- Very frequent (80% to 99% of cases)
- Visual lossHPOHP:0000572
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ALMS1HGNC:428
- Definitive · ClinGen · Unknown · 2017
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: Alstrom syndrome
- Also called
- ALMSALSSAlström SyndromeAlstrom's syndrome