KEGG DISEASE: Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)

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:

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

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)

LinkDB

» Japanese version

DISEASE: Incontinentia pigmenti

Entry

H00645                      Disease

Name

Incontinentia pigmenti

Description

Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis mostly affecting females. Cutaneous manifestations are present along the lines of Blaschko and are subdivided into four stages: vesicular, verrucous, hyperpigmented, and atrophic. Other tissues of ectodermal origin are also affected, showing hair abnormalities, dental anomalies, and ophthalmologic and neurologic alterations. Familial incontinentia pigmenti is caused by mutations in the NEMO gene.