KEGG   DISEASE: Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
Entry
H00540                      Disease                                
Name
Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID);
Ectodermal dysplasia and immunodeficiency 1 (EDAID1);
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
  Supergrp
Ectodermal dysplasia and immunodeficiency [DS:H00095]
Description
A rare X-linked recessive syndrome 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency', abbreviated as OLEDAID, is caused by termination codon mutations in the NEMO gene which encodes the essential modulator of NF-kappa B.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00540  Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06516  TNF signaling
   H00540  Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
Pathway
hsa04668  TNF signaling pathway
hsa04064  NF-kappa B signaling pathway
Network
nt06516 TNF signaling
Gene
IKBKG [HSA:8517] [KO:K07210]
Other DBs
ICD-11: LD27.0Y
MeSH: C564542
OMIM: 300291
Reference
PMID:21622647
  Authors
Hubeau M, Ngadjeua F, Puel A, Israel L, Feinberg J, Chrabieh M, Belani K, Bodemer C, Fabre I, Plebani A, Boisson-Dupuis S, Picard C, Fischer A, Israel A, Abel L, Veron M, Casanova JL, Agou F, Bustamante J
  Title
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
  Journal
Blood 118:926-35 (2011)
DOI:10.1182/blood-2010-10-315234
Reference
PMID:17670762
  Authors
Brouillard P, Vikkula M
  Title
Genetic causes of vascular malformations.
  Journal
Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
DOI:10.1093/hmg/ddm211
Reference
PMID:16379592
  Authors
Wang QK
  Title
Update on the molecular genetics of vascular anomalies.
  Journal
Lymphat Res Biol 3:226-33 (2005)
DOI:10.1089/lrb.2005.3.226
Reference
PMID:16307387
  Authors
Balemans W, Van Wesenbeeck L, Van Hul W
  Title
A clinical and molecular overview of the human osteopetroses.
  Journal
Calcif Tissue Int 77:263-74 (2005)
DOI:10.1007/s00223-005-0027-6
Reference
PMID:17936098
  Authors
Del Fattore A, Cappariello A, Teti A
  Title
Genetics, pathogenesis and complications of osteopetrosis.
  Journal
Bone 42:19-29 (2008)
DOI:10.1016/j.bone.2007.08.029
Reference
PMID:20301306
  Authors
Schulz A, Kornak U
  Title
CLCN7-Related Osteopetrosis
  Journal
GeneReviews (1993)

» Japanese version

  All links  
Disease (1)   
   OMIM (1)   
All databases (1)   

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