KEGG   DISEASE: Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)Help
Entry
H00540                      Disease                                

Name
Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID);
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
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 [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00540  Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
hsa04062  Chemokine signaling pathway
hsa04210  Apoptosis
hsa04380  Osteoclast differentiation
hsa04660  T cell receptor signaling pathway
hsa04662  B cell receptor signaling pathway
Gene
IKBKG [HSA:8517] [KO:K07210]
Other DBs
ICD-10: Q78.2
MeSH: C536181
OMIM: 300301
Reference
PMID:21622647 (description, gene)
  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 (description, gene)
  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 (description, gene)
  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 (description, gene)
  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 (description, gene)
  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 (description, gene)
  Authors
Schulz A, Kornak U
  Title
CLCN7-Related Osteopetrosis
  Journal
GeneReviews (1993)

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