KEGG   DISEASE: H00540Help
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
Primary immunodeficiency; Skeletal dysplasia
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00540  Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
 Musculoskeletal diseases
  Skeletal diseases
   H00540  Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
 Skin diseases
  Skin and soft tissue diseases
   H00540  Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
BRITE hierarchy
Pathway
MAPK signaling pathway
Chemokine signaling pathway
Apoptosis
Osteoclast differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
Gene
IKBKG [HSA:8517] [KO:K07210]
Other DBs
MeSH: 
OMIM: 
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)
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)
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)
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)
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)
Reference
PMID:20301306 (description, gene)
  Authors
Schulz A, Kornak U
  Title
CLCN7-Related Osteopetrosis
  Journal
(1993)

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