MCID: IMM023
MIFTS: 18

Immunodeficiency Without Anhidrotic Ectodermal Dysplasia malady

Genetic diseases, Rare diseases, Immune diseases categories

Summaries for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
48OMIM, 34MalaCards
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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:48 300584

Aliases & Classifications for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 63UMLS
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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 44 21 23
immunodeficiency, isolated 44 48
immunologic deficiency syndromes 63
immunodeficiency, pure 44


Related Diseases for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
18GeneCards, 19GeneDecks
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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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Sources:
48OMIM
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Clinical features from OMIM:

300584

Drugs & Therapeutics for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Drug clinical trials:

Search ClinicalTrials for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Search NIH Clinical Center for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Search CenterWatch for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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21GeneTests, 23GTR
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Genetic tests related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

id Genetic test Affiliating Genes
1 Immunodeficiency Without Anhidrotic Ectodermal Dysplasia21 23 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:
65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

65
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet