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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:COACH syndrome
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Accession:DOID:0111589 term browser browse the term
Definition:COACH syndrome is an autosomal recessive disorder characterized by oligophrenia (mental retardation), ataxia due to cerebellar vermis hypo/aplasia, and hepatic fibrosis. Other features, such as ocular coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding. COACH syndrome is most commonly associated with compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. (OMIM)
Synonyms:exact_synonym: Gentile syndrome;   JS-H;   Joubert syndrome with congenital hepatic fibrosis;   Joubert syndrome with hepatic defect;   cerebellar vermis hypo-aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis;   cerebellar vermis hypo-aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
 primary_id: MESH:C536430
 alt_id: DOID:9004008;   OMIM:216360
 xref: GARD:1410;   ORDO:1454
For additional species annotation, visit the Alliance of Genome Resources.


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COACH syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by OMIM:216360
OMIM
ClinVar
PMID:18414213, PMID:18950740, PMID:19574260, PMID:19777577, PMID:22241855, PMID:22246503, PMID:25741868, PMID:26092869, PMID:27081510, PMID:27082236, PMID:28492532 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by OMIM:216360
OMIM
ClinVar
PMID:17558407, PMID:17558409, PMID:19430481, PMID:19574260, PMID:21866095, PMID:23188109, PMID:25741868, PMID:26092869, PMID:28492532, PMID:29991045 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:216360
DNA:missense mutations: :multiple
ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
OMIM
ClinVar
PMID:2929661, PMID:8862632, PMID:10508989, PMID:12368986, PMID:17160906, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21633164, PMID:21866095, PMID:23559409, PMID:25326635, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28492532, PMID:28497568, PMID:28973083, PMID:30311386, PMID:19058225, PMID:19574260 RGD:11535944, RGD:11535946 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      COACH syndrome 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            movement disease 1156
              Dyskinesias 867
                Ataxia 393
                  COACH syndrome 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.