MCID: IMM023
MIFTS: 17

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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MalaCards based summary: Immunodeficiency Without Anhidrotic Ectodermal Dysplasia, is also known as immunodeficiency, isolated and has symptoms including 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 immunoglobulins and cytomegalovirus immune globulin have been mentioned in the context of this disorder.

Description from OMIM:46 300584

Aliases & Classifications for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Immunodeficiency Without Anhidrotic Ectodermal Dysplasia, Aliases & Descriptions:

Name: Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 42 20 22 62
Immunodeficiency, Isolated 42 46
 
Immunologic Deficiency Syndromes 62
Immunodeficiency, Pure 42


Classifications:

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


Related Diseases for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Symptoms for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Clinical features from OMIM:

300584

HPO human phenotypes related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

(show all 6)
id Description Frequency HPO Source Accession
1 x-linked recessive inheritance HP:0001419
2 iga deficiency HP:0002720
3 impaired memory b-cell generation HP:0002847
4 increased igm level HP:0003496
5 igg deficiency HP:0004315
6 recurrent mycobacterium avium complex infections HP:0011275

Drugs & Therapeutics for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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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-RT40:

Genetic Tests for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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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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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

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

Clinvar genetic disease variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

6
id Gene Name Type Significance SNP ID Assembly Location
1IKBKGIKBKG, IVS8, -1, G-Asingle nucleotide variantPathogenic
2IKBKGIKBKG, 1-BP INS, 110CinsertionPathogenic

Expression for genes affiliated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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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

Sources for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet