OLEDAID
MCID: ECT103
MIFTS: 18

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (OLEDAID)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

MalaCards integrated aliases for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:

Name: Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 58 30 6 74
Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency 58 13
Oledaid 58 76
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis and Lymphedema 76
Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome 60
Dysplasia, Ectodermal, Anhidrotic, Lymphedema and Immunodeficiency 41
Ol-Eda-Id 60

Characteristics:

Orphanet epidemiological data:

60
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

OMIM 58 300301
MeSH 45 D004476
ICD10 via Orphanet 35 Q78.2
UMLS via Orphanet 75 C1845919
Orphanet 60 ORPHA69088
MedGen 43 C1845919
UMLS 74 C1845919

Summaries for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

UniProtKB/Swiss-Prot : 76 Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the association of anhidrotic ectodermal dysplasia with severe immunodeficiency, osteopetrosis and lymphedema.

MalaCards based summary : Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema, is also known as ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency. An important gene associated with Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma). Affiliated tissues include skin and bone, and related phenotypes are immunodeficiency and lymphedema

Description from OMIM: 300301

Related Diseases for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

Symptoms & Phenotypes for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

Human phenotypes related to Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:

33
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 33 HP:0002721
2 lymphedema 33 HP:0001004
3 recurrent infections 33 HP:0002719
4 osteopetrosis 33 HP:0011002
5 ectodermal dysplasia 33 HP:0000968

Clinical features from OMIM:

300301

Drugs & Therapeutics for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema

Genetic Tests for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

Genetic tests related to Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 30 IKBKG

Anatomical Context for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

MalaCards organs/tissues related to Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:

42
Skin, Bone

Publications for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

Articles related to Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:

# Title Authors Year
1
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. ( 11242109 )
2001
2
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. ( 10839543 )
2000

Variations for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

ClinVar genetic disease variations for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IKBKG NM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp) single nucleotide variant Pathogenic rs137853321 GRCh37 Chromosome X, 153792675: 153792675
2 IKBKG NM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp) single nucleotide variant Pathogenic rs137853321 GRCh38 Chromosome X, 154564460: 154564460
3 IKBKG NG_009896.1: g.5147G> A single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153770605: 153770605
4 IKBKG NG_009896.1: g.5147G> A single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154542390: 154542390

Expression for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

Search GEO for disease gene expression data for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema.

Pathways for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

GO Terms for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

Sources for Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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