H00540 | |
H number | H00540 |
Name | Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID); Ectodermal dysplasia and immunodeficiency 1 (EDAID1); 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 |
Network | nt06516(H00540) TNF signaling |
Gene | IKBKG [HSA:8517] [KO:K07210] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD27.0Y ICD-10: Q78.2 MeSH: C536181 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 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 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 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 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 PMID:20301306 AUTHORS Schulz A, Kornak U TITLE CLCN7-Related Osteopetrosis JOURNAL GeneReviews (1993) |