KEGG   DISEASE: Helsmoortel-van der Aa syndrome
Entry
H02365                      Disease                                
Name
Helsmoortel-van der Aa syndrome;
Mental retardation, autosomal dominant 28
  Supergrp
Autosomal dominant intellectual developmental disorder [DS:H00773]
Description
Helsmoortel-van der Aa syndrome (HVDAS) is an autism spectrum disorder (ASD), accompanied with intellectual disability and facial dysmorphisms. It has been reported that HVDAS is caused by mutations in ADNP, a transcription factor involved in the SWI/SNF remodeling complex.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02365  Helsmoortel-van der Aa syndrome
Gene
ADNP [HSA:23394] [KO:K22591]
Other DBs
ICD-11: LD90.Y
MeSH: C000730394
OMIM: 615873
Reference
PMID:24531329
  Authors
Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Anneren G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N
  Title
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
  Journal
Nat Genet 46:380-4 (2014)
DOI:10.1038/ng.2899
Reference
PMID:25057125
  Authors
Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM
  Title
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.
  Journal
J Med Genet 51:587-9 (2014)
DOI:10.1136/jmedgenet-2014-102444
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