KEGG DISEASE: Nicolaides-Baraitser syndrome

DISEASE: Nicolaides-Baraitser syndrome

Entry

H01402                      Disease

Name

Nicolaides-Baraitser syndrome

Description

Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies, and intellectual disability. Heterozygous missense mutations in SMARCA2 cause this disease.

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
    H01402  Nicolaides-Baraitser syndrome

Gene

SMARCA2 [HSA:6595] [KO:K11647]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

C536116

OMIM:

601358

Reference

PMID:22366787

Authors

Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR

Title

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Journal

Nat Genet 44:445-9, S1 (2012)
DOI:10.1038/ng.1105

Reference

PMID:23010866

Authors

Santen GW, Kriek M, van Attikum H

Title

SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.

Journal

Epigenetics 7:1219-24 (2012)
DOI:10.4161/epi.22299

LinkDB

» Japanese version

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