OLEDAID
MCID: ECT044
MIFTS: 19

Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency (OLEDAID) malady

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

Aliases & Classifications for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

Aliases & Descriptions for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency:

Name: Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency 54 13
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 54 69
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis and Lymphedema 66 29
Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome 56
Ol-Eda-Id 56
Oledaid 66

Characteristics:

Orphanet epidemiological data:

56
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 54 300301
Orphanet 56 ORPHA69088
ICD10 via Orphanet 34 Q78.2
MedGen 40 C1845919
MeSH 42 D004476

Summaries for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

UniProtKB/Swiss-Prot : 66 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, Lymphedema and Immunodeficiency, is also known as ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema, and has symptoms including immunodeficiency, lymphedema and recurrent infections. An important gene associated with Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma). Affiliated tissues include bone and skin.

Description from OMIM: 300301

Related Diseases for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

Symptoms & Phenotypes for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

Clinical features from OMIM:

300301

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

32
id 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, Lymphedema and...

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

Genetic Tests for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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

id Genetic test Affiliating Genes
1 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 29

Anatomical Context for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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

39
Bone, Skin

Publications for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

Variations for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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

6
id 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

Expression for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

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

Pathways for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

GO Terms for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

Sources for Ectodermal, Dysplasia, Anhidrotic, Lymphedema and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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