eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| coach syndrome | ||||
| Disease ID | 1676 |
|---|---|
| Disease | coach syndrome |
| Definition | A very rare subtype of Joubert syndrome with the neurological features of Joubert Syndrome and congenital hepatic fibrosis. Prevalence is unknown. The age of onset and severity of hepatic manifestations are variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis but these are not mandatory features. Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1). |
| Synonym | cerebellar vermis hypo-aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis cerebellar vermis hypo-aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis coach (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome gentile syndrome joubert syndrome with congenital hepatic fibrosis joubert syndrome with congenital hepatic fibrosis (disorder) joubert syndrome with hepatic defect |
| Orphanet | |
| OMIM | |
| UMLS | C1857662 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1676 |
|---|---|
| Disease | coach syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1676 |
|---|---|
| Disease | coach syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853107 | NA | 91147 | TMEM67 | umls:C1857662 | CLINVAR | NA | 0.480814326 | NA | TMEM67 | 8 | 93791282 | A | G,T |
| rs145665129 | NA | 23322 | RPGRIP1L | umls:C1857662 | CLINVAR | NA | 0.480271442 | NA | RPGRIP1L | 16 | 53645895 | G | A |
| rs267606709 | NA | 57545 | CC2D2A | umls:C1857662 | CLINVAR | NA | 0.480271442 | NA | CC2D2A | 4 | 15567735 | C | T |
| rs267607020 | NA | 23322 | RPGRIP1L | umls:C1857662 | CLINVAR | NA | 0.480271442 | NA | RPGRIP1L | 16 | 53652712 | A | G |
| rs267607115 | NA | 91147 | TMEM67 | umls:C1857662 | CLINVAR | NA | 0.480814326 | NA | TMEM67 | 8 | 93795503 | T | C |
| rs267607119 | NA | 91147 | TMEM67 | umls:C1857662 | CLINVAR | NA | 0.480814326 | NA | TMEM67 | 8 | 93808898 | T | C |
| rs386833750 | NA | 57545 | CC2D2A | umls:C1857662 | CLINVAR | NA | 0.480271442 | NA | CC2D2A | 4 | 15563485 | C | A,G,T |
| rs758948621 | NA | 91147 | TMEM67 | umls:C1857662 | CLINVAR | NA | 0.480814326 | NA | TMEM67 | 8 | 93797329 | A | C |
| rs786200867 | NA | 91147 | TMEM67 | umls:C1857662 | CLINVAR | NA | 0.480814326 | NA | TMEM67 | 8 | 93808957 | G | T |
| rs786200868 | NA | 91147 | TMEM67 | umls:C1857662 | CLINVAR | NA | 0.480814326 | NA | TMEM67 | 8 | 93755871 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1676 |
|---|---|
| Disease | coach syndrome |
| Case | (Waiting for update.) |