KEGG   DISEASE: Feingold syndromeHelp
Entry
H00510                      Disease                                

Name
Feingold syndrome
Description
Feingold syndrome (FGLDS) is characterized by limb malformations, microcephaly, esophageal/duodenal atresias, and learning disability. Feingold syndrome is caused by mutations in MYCN and inherited as an autosomal dominant trait. Recently, individuals sharing the skeletal abnormalities of FGLDS but lacking mutations in MYCN, were found to harbour deletions of the MIR17HG gene. These individuals share many of the characteristics of FGLDS except for gastrointestinal atresia. The condition was termed Feingold syndrome type 2 (FGLDS2).
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00510  Feingold syndrome
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
    H00510  Feingold syndrome
BRITE hierarchy
Gene
(FGLDS1) MYCN [HSA:4613] [KO:K09109]
(FGLDS2) MIR17HG [HSA:407975]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C537734
OMIM: 164280 614326
Reference
  Authors
Mundlos S
  Title
The brachydactylies: a molecular disease family.
  Journal
Clin Genet 76:123-36 (2009)
DOI:10.1111/j.1399-0004.2009.01238.x
Reference
  Authors
Teszas A, Meijer R, Scheffer H, Gyuris P, Kosztolanyi G, van Bokhoven H, Kellermayer R
  Title
Expanding the clinical spectrum of MYCN-related Feingold syndrome.
  Journal
Am J Med Genet A 140:2254-6 (2006)
DOI:10.1002/ajmg.a.31407
Reference
  Authors
Marcelis CLM, de Brouwer APM
  Title
Feingold Syndrome
  Journal
GeneReviews (1993)
Reference
PMID:9096751
  Authors
Kawame H, Pagon RA, Hudgins L
  Title
Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?
  Journal
Reference
  Authors
de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Genevieve D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J
  Title
Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans.
  Journal
Nat Genet 43:1026-30 (2011)
DOI:10.1038/ng.915
Reference
  Authors
Ganjavi H, Siu VM, Speevak M, MacDonald PA
  Title
A fourth case of Feingold syndrome type 2: psychiatric presentation and management.
  Journal
BMJ Case Rep 2014:bcr2014207501 (2014)
DOI:10.1136/bcr-2014-207501

» Japanese version

DBGET integrated database retrieval system