Details of Disease

General Information of Disease (ID: DISVDRSD)

Disease Name COACH syndrome
Synonyms
cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis; Joubert syndrome with hepatic defect; JS-H; cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; gentile syndrome; Joubert syndrome with congenital hepatic fibrosis
Definition A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DIS04FVG: Joubert syndrome and related disorders
DISVDRSD: COACH syndrome
Disease Identifiers
MONDO ID
MONDO_0100349
MESH ID
C536430
UMLS CUI
C1857662
MedGen ID
387879
Orphanet ID
1454
SNOMED CT ID
721847002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CC2D2A OTFGRGFR Limited Biomarker [1]
RPGRIP1L OT6Z069I Limited Biomarker [2]
TMEM67 OTME92T5 Limited Biomarker [3]
INPP5E OTJF2AZ9 Strong GermlineCausalMutation [4]
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References

1 Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.Mol Med Rep. 2017 Jan;15(1):305-308. doi: 10.3892/mmr.2016.6007. Epub 2016 Dec 7.
2 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1.
3 Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.Sci Rep. 2017 Aug 31;7(1):10222. doi: 10.1038/s41598-017-10652-z.
4 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9.