PedAM

Pediatric Disease Annotations & Medicines


	coach syndrome

Disease ID	1089
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	ORPHANET:1454
OMIM	OMIM:216360
UMLS	C1857662
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) TMEM67 \| 91147 \| CLINVAR;CTD_human;ORPHANET;UNIPROT RPGRIP1L \| 23322 \| CLINVAR;CTD_human;ORPHANET;UNIPROT INPP5E \| 56623 \| ORPHANET CC2D2A \| 57545 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1089
Disease	coach syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001395 \| Hepatic fibrosis \| 2 HP:0002612 \| Congenital hepatic fibrosis \| 2

Disease ID	1089
Disease	coach syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0239946 \| hepatic fibrosis C0023895 \| hepatopathy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0239946 \| hepatic fibrosis \| 2

Manually Genotype(Total Text Mining 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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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