COACH syndrome 1
MONDO:0800103Mondo
Findings
No curated finding names COACH syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.
Definition from the Mondo Disease Ontology (MONDO:0800103), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 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.
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 11 of 12 reported patients
- Hepatic fibrosisHPOHP:0001395
- 10 of 12 reported patients · Congenital onset
- HypotoniaHPOHP:0001252
- 10 of 12 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 10 of 12 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 9 of 12 reported patients
- Hepatomegaly
Show the remaining 12
- NephronophthisisHPOHP:0000090
- 5 of 12 reported patients
- Growth delayHPOHP:0001510
- 4 of 12 reported patients
- Aplasia/Hypoplasia of the cerebellar vermisHPOHP:0006817
- 3 of 12 reported patients
- Esophageal varixHPOHP:0002040
- 3 of 12 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 3 of 12 reported patients
- DystoniaHPOHP:0001332
- 2 of 12 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.
- TMEM67HGNC:28396
- Definitive · G2P · Autosomal recessive · 2015
Where it sits
- A kind of
Other names
1 name
Resolves to: COACH syndrome 1
- Also called
- cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis