Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

COACH syndrome

COACH syndrome is an autosomal recessive disorder caused by mutations in the CC2D2A gene.

Systematic

Ciliopathy
Acrocallosal syndrome
COACH syndrome
CC2D2A
RPGRIP1L
TMEM67
Cranioectodermal dysplasia
Joubert syndrome
Leber congenital amaurosis
Left-right axis malformations
Meckel syndrome
Mental retardation, truncal obesity, retinal dystrophy and micropenis
Nephronophthisis
Orofaciodigital syndrome
Primary ciliary dyskinesia 3 with or without situs inversus
Retinitis pigmentosa
Senior-Loken syndrome
Short-rib thoracic dysplasia with or without polydactyly
Simpson-Golabi-Behmel syndrome

References:

1.

Verloes A et. al. (1989) Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.

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2.

Gentile M et. al. (1996) COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.

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3.

Doherty D et. al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

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4.

Gorden NT et. al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

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5.

Dieterich E et. al. (1980) Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia.

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6.

Kumar S et. al. (1996) Renal insufficiency is a component of COACH syndrome.

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7.

Foell D et. al. (2002) Early detection of severe cholestatic hepatopathy in COACH syndrome.

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8.

Brancati F et. al. (2009) MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

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Update: Sept. 26, 2018