KEGG DISEASE: Floating-Harbor syndrome

DISEASE: Floating-Harbor syndrome

Entry

H02082                      Disease

Name

Floating-Harbor syndrome

Description

Floating-Harbor syndrome is a rare syndrome characterized by short stature, characteristic face, and an expressive speech delay. Mutations in SRCAP, encoding chromatin-remodeling factor, 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
    H02082  Floating-Harbor syndrome

Gene

SRCAP [HSA:10847] [KO:K11661]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:20014123

Authors

Hendrickx JJ, Keymolen K, Desprechins B, Casselman J, Gordts F

Title

Floating-Harbor syndrome associated with middle ear abnormalities.

Journal

Am J Med Genet A 152A:161-4 (2010)
DOI:10.1002/ajmg.a.33033

Reference

PMID:22265015

Authors

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J, Majewski J, Bulman DE, White SM, Boycott KM

Title

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Journal

Am J Hum Genet 90:308-13 (2012)
DOI:10.1016/j.ajhg.2011.12.001

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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