Details of Disease | DrugMAP

General Information of Disease (ID: DISM57KK)

Disease Name	Obsolete COACH syndrome 1
Definition	OBSOLETE. A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISM57KK: Obsolete COACH syndrome 1

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	Supportive	Autosomal recessive	[1]
INPP5E	OTJF2AZ9	Supportive	Autosomal recessive	[2]
RPGRIP1L	OT6Z069I	Supportive	Autosomal recessive	[1]
TMEM67	OTME92T5	Strong	Autosomal recessive	[3]
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References

1	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.
2	Joubert Syndrome. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
3	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.