MCID: IMM023
MIFTS: 19

Immunodeficiency Without Anhidrotic Ectodermal Dysplasia malady

Immune category

Summaries for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Sources:
47OMIM, 33MalaCards
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MalaCards: Immunodeficiency Without Anhidrotic Ectodermal Dysplasia, also known as immunodeficiency, isolated, is related to factor v deficiency and ipex syndrome. 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

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 61UMLS
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Classifications:

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


Aliases & Descriptions:

immunodeficiency without anhidrotic ectodermal dysplasia 43 20 22
immunodeficiency, isolated 43 47
immunologic deficiency syndromes 61
immunodeficiency, pure 43


Related Diseases for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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 16)
idRelated DiseaseScoreTop Affiliating Genes
1factor v deficiency10.0
2ipex syndrome10.0
3albinism immunodeficiency10.0
4alopecia immunodeficiency10.0
5autosomal recessive hyper ige syndrome10.0
6intrinsic factor deficiency10.0
7leukocyte adhesion deficiency type 110.0
8immunodeficiency 1110.0
9immunodeficiency 1510.0
10immunodeficiency 1010.0
11immunodeficiency 910.0
12immunodeficiency 810.0
13immunodeficiency 1310.0
14immunodeficiency 1210.0
15primary immunodeficiency disease10.0
16adrenocorticotropic hormone deficiency9.9

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

Sources:
47OMIM
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Clinical features from OMIM:

300584

Drugs & Therapeutics for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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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

Search CenterWatch for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Sources:
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

Animal Models for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Genetic Variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia:

63
id Symbol AA change Variation SNP ID
1IKBKGp.Cys417TyrVAR_026496rs137853326

Expression for genes affiliated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

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

Compounds for genes affiliated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

GO Terms for genes affiliated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Products for genes affiliated with Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet