Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

COACH-Syndrom

Das COACH-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen CC2D2A hervorgerufen wird.

Gliederung

Ziliopathie
Acrocallosal Syndrom
Asphyxierende Thoraxdyplasie
COACH-Syndrom
CC2D2A
RPGRIP1L
TMEM67
Geistige Retardierung, stammbetonte Adipositas, Netzhautdystrophie und Mikropenis
Joubert-Syndrom
Kranioektodermale Dysplasie
Lebersche kongenitale Amaurose
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Nephronophthise
Orofaciodigitales Syndrom
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
Retinitis pigmentosa
Senior-Loken-Syndrom
Simpson-Golabi-Behmel-Syndrom

Referenzen:

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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9.

OMIM.ORG article

Omim 216360 external link
10.

Orphanet article

Orphanet ID 1454 external link
Update: 14. August 2020
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