Coach syndrome 1

Preferred Label : Coach syndrome 1;

Symbol : COACH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Joubert syndrome with congenital hepatic fibrosis; Cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis; Coach syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 67 gene (TMEM67, 609884.0013); Caused by mutation in the coiled-coil and C2 domains-containing protein 2A gene (CC2D2A, 612013.0006); Caused by mutation in the RPGRIP1-like gene (RPGRIP1L, 610937.0011);

Laboratory abnormalities : Abnormal liver enzymes;

Prefixed ID : #216360;

Détails

Origin ID

216360;

UMLS CUI

C5435651;

Automatic exact mappings (from CISMeF team)
- COACH syndrome [DO Concept]
- Joubert syndrome with hepatic defect [ICD-11 More detail]
CISMeF manual mappings
- Joubert syndrome with congenital hepatic fibrosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- COACH syndrome [PASCAL descriptor]
- COACH syndrome [Disease (Nov.)]
- COACH syndrome [MeSH concept]
- COACH syndrome [MeSH Supplementary Concept]
- Joubert syndrome with hepatic defect [ORDO Disease]
DO Cross reference
- COACH syndrome [DO Concept]
Genes related to phenotype
- Transmembrane protein 67 [OMIM gene]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Anteverted nares [HPO term]
- Aplasia/Hypoplasia of the cerebellar vermis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cirrhosis [HPO term]
- Coloboma [HPO term]
- Congenital onset [HPO term]
- Dystonia [HPO term]
- Elevated hepatic transaminase [HPO term]
- Encephalocele [HPO term]
- Esophageal varix [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypertension [HPO term]
- Hypo/aplastic vermis [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, moderate [HPO term]
- Intrahepatic bile duct dilatation [HPO term]
- Molar tooth sign on MRI [HPO term]
- Multiple small medullary renal cysts [HPO term]
- Nephronophthisis [HPO term]
- Nystagmus [HPO term]
- Occipital encephalocele [HPO term]
- Oculomotor apraxia [HPO term]
- Optic disc pallor [HPO term]
- Portal hypertension [HPO term]
- Postaxial hand polydactyly [HPO term]
- Ptosis [HPO term]
- Renal cyst [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Splenomegaly [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Unilateral renal agenesis [HPO term]
- Upturned nose [HPO term]
- Vascular dilatation [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Joubert syndrome with hepatic defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- COACH syndrome [MeSH Supplementary Concept]
- COACH syndrome [MeSH concept]
- COACH syndrome [PASCAL descriptor]
- COACH syndrome [Disease (Nov.)]
- COACH syndrome [DO Concept]
- Joubert syndrome with congenital hepatic fibrosis (disorder) [SNOMED CT concept]
- Joubert syndrome with hepatic defect [ORDO Disease]

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