KEGG DISEASE: Van Maldergem syndrome

KEGG

DISEASE: Van Maldergem syndrome

Entry

H01393                      Disease

Name

Van Maldergem syndrome;
Cerebro-facio-articular syndrome

Description

Van Maldergem syndrome (VMS) is an autosomal-recessive disorder characterized by intellectual disability, hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity. Biallelic mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 result in VMS.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01393  Van Maldergem syndrome

Pathway

Hippo signaling pathway - multiple species

Gene

(VMLDS1) DCHS1 [HSA:8642] [KO:K16507]
(VMLDS2) FAT4 [HSA:79633] [KO:K16669]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Gotz M, Robertson SP

Title

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

Journal

Nat Genet 45:1300-8 (2013)
DOI:10.1038/ng.2765

Reference

Authors

Neuhann TM, Muller D, Hackmann K, Holzinger S, Schrock E, Di Donato N

Title

A further patient with van Maldergem syndrome.

Journal

Eur J Med Genet 55:423-8 (2012)
DOI:10.1016/j.ejmg.2012.02.012

LinkDB

» Japanese version

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