MCID: ECT103
MIFTS: 19

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema

Categories: Genetic diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Rare diseases, Immune 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 57 29 6 73
Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency 57 13
Oledaid 57 75
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis and Lymphedema 75
Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome 59
Dysplasia, Ectodermal, Anhidrotic, Lymphedema and Immunodeficiency 40
Ol-Eda-Id 59

Characteristics:

Orphanet epidemiological data:

59
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 57 300301
Orphanet 59 ORPHA69088
ICD10 via Orphanet 34 Q78.2
UMLS via Orphanet 74 C1845919
MedGen 42 C1845919
MeSH 44 D004476
UMLS 73 C1845919

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

UniProtKB/Swiss-Prot : 75 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 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,...

Clinical features from OMIM:

300301

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

32
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 lymphedema 32 HP:0001004
3 recurrent infections 32 HP:0002719
4 osteopetrosis 32 HP:0011002
5 ectodermal dysplasia 32 HP:0000968

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 29 IKBKG

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

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

41
Skin, Bone

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

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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