cerebroretinal microangiopathy with calcifications and cysts 2
Findings
No curated finding names cerebroretinal microangiopathy with calcifications and cysts 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0015026), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 2 of 2 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- 2 of 2 reported patients
- Esophageal varixHPOHP:0002040
- 2 of 2 reported patients
- Gastrointestinal hemorrhageHPOHP:0002239
- 2 of 2 reported patients
- Growth delayHPOHP:0001510
- 2 of 2 reported patients
- Hepatic fibrosisHPOHP:0001395
- 2 of 2 reported patients
- Intrauterine growth retardationHPO
Show the remaining 4
- DystoniaHPOHP:0001332
- 1 of 2 reported patients
- Motor regressionHPOHP:0033044
- 1 of 2 reported patients
- Retinal telangiectasiaHPOHP:0007763
- 1 of 2 reported patients
- SpasticityHPOHP:0001257
- 1 of 2 reported patients
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.
- STN1HGNC:26200
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- Moderate · ClinGen · Autosomal recessive · 2026
Where it sits
- A kind of
Other names
3 names
Resolves to: cerebroretinal microangiopathy with calcifications and cysts 2
- Also called
- cerebroretinal microangiopathy with calcifications and cysts type 2Coats plus syndrome caused by mutation in STN1STN1 Coats plus syndrome