COACH2
MCID: CCH010
MIFTS: 14

Coach Syndrome 2 (COACH2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Coach Syndrome 2

MalaCards integrated aliases for Coach Syndrome 2:

Name: Coach Syndrome 2 57 29 6
Coach2 57

Classifications:



External Ids:

OMIM® 57 619111

Summaries for Coach Syndrome 2

OMIM® : 57 COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis (Verloes and Lambotte, 1989). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by Doherty et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see 216360. (619111) (Updated 05-Apr-2021)

MalaCards based summary : Coach Syndrome 2, is also known as coach2. An important gene associated with Coach Syndrome 2 is CC2D2A (Coiled-Coil And C2 Domain Containing 2A).

Related Diseases for Coach Syndrome 2

Diseases in the Coach Syndrome 1 family:

Coach Syndrome 2 Coach Syndrome 3

Symptoms & Phenotypes for Coach Syndrome 2

Clinical features from OMIM®:

619111 (Updated 05-Apr-2021)

Drugs & Therapeutics for Coach Syndrome 2

Search Clinical Trials , NIH Clinical Center for Coach Syndrome 2

Genetic Tests for Coach Syndrome 2

Genetic tests related to Coach Syndrome 2:

# Genetic test Affiliating Genes
1 Coach Syndrome 2 29 CC2D2A

Anatomical Context for Coach Syndrome 2

Publications for Coach Syndrome 2

Articles related to Coach Syndrome 2:

# Title Authors PMID Year
1
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 6 57
19574260 2010
2
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 57 6
18950740 2008
3
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 6
22246503 2012
4
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. 57
2929661 1989

Variations for Coach Syndrome 2

ClinVar genetic disease variations for Coach Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CC2D2A CC2D2A, 1-BP DEL, 3289G Deletion Pathogenic 746 GRCh37:
GRCh38:
2 CC2D2A NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met) SNV Pathogenic 748 rs267606709 GRCh37: 4:15569358-15569358
GRCh38: 4:15567735-15567735
3 CC2D2A NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) SNV Pathogenic 747 rs386833750 GRCh37: 4:15565108-15565108
GRCh38: 4:15563485-15563485
4 CC2D2A NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys) SNV Pathogenic 744 rs118204052 GRCh37: 4:15601237-15601237
GRCh38: 4:15599614-15599614

Expression for Coach Syndrome 2

Search GEO for disease gene expression data for Coach Syndrome 2.

Pathways for Coach Syndrome 2

GO Terms for Coach Syndrome 2

Sources for Coach Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....