MCID: IMM023
MIFTS: 21

Immunodeficiency Without Anhidrotic Ectodermal Dysplasia malady

Immune diseases category

Summaries for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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46OMIM, 32MalaCards
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MalaCards: Immunodeficiency Without Anhidrotic Ectodermal Dysplasia, also known as immunodeficiency, isolated, is related to ipex syndrome and albinism immunodeficiency. 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:46 300584

Aliases & Classifications for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune diseases


Aliases & Descriptions:

immunodeficiency without anhidrotic ectodermal dysplasia 42 20 22
immunodeficiency, isolated 42 46
immunologic deficiency syndromes 60
immunodeficiency, pure 42


Related Diseases for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1ipex syndrome10.0
2albinism immunodeficiency10.0
3alopecia immunodeficiency10.0
4autosomal recessive hyper ige syndrome10.0
5leukocyte adhesion deficiency type 110.0
6immunodeficiency 1110.0
7immunodeficiency 1510.0
8immunodeficiency 1010.0
9immunodeficiency 910.0
10immunodeficiency 810.0
11immunodeficiency 1310.0
12immunodeficiency 1210.0
13primary immunodeficiency disease10.0
14infantile autosomal recessive medullary cystic kidney disease10.0

Graphical network of diseases related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:



Diseases related to immunodeficiency without anhidrotic ectodermal dysplasia

Clinical Features for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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46OMIM
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Clinical features from OMIM:

300584

Drugs & Therapeutics for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Drug clinical trials:

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Search NIH Clinical Center for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Search CenterWatch for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Inferred drug relations via UMLS60/NDF-RT40:

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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Genetic Variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

62
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:
1BioGPS, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet