MCID: IMM023
MIFTS: 18

Immunodeficiency Without Anhidrotic Ectodermal Dysplasia malady

Genetic diseases, Rare diseases, Immune diseases categories
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Summaries for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
47OMIM, 33MalaCards
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MalaCards: Immunodeficiency Without Anhidrotic Ectodermal Dysplasia, also known as immunodeficiency, isolated, is related to adrenocorticotropic hormone deficiency. An important gene associated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). The drugs cytomegalovirus immune globulin and immunoglobulins have been mentioned in the context of this disorder.

Description from OMIM:47 300584

Aliases & Classifications for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases


Aliases & Descriptions:

immunodeficiency without anhidrotic ectodermal dysplasia 43 20 22
immunodeficiency, isolated 43 47
immunologic deficiency syndromes 62
immunodeficiency, pure 43


Related Diseases for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1adrenocorticotropic hormone deficiency9.9

Symptoms for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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47OMIM
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Clinical features from OMIM:

300584

Drugs & Therapeutics for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Search NIH Clinical Center for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

id Genetic test Affiliating Genes
1 Immunodeficiency Without Anhidrotic Ectodermal Dysplasia20 22 IKBKG

Anatomical Context for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Animal Models for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia or affiliated genes

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Publications for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

64
id Symbol AA change Variation ID SNP ID
1IKBKGp.Cys417TyrVAR_026496rs137853326

Expression for genes affiliated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Search GEO for disease gene expression data for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia.

Pathways for genes affiliated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Compounds for genes affiliated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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GO Terms for genes affiliated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Products for genes affiliated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet