MCID: ZP7001
MIFTS: 12

Zap70-Related Severe Combined Immunodeficiency

Categories: Immune diseases

Aliases & Classifications for Zap70-Related Severe Combined Immunodeficiency

MalaCards integrated aliases for Zap70-Related Severe Combined Immunodeficiency:

Name: Zap70-Related Severe Combined Immunodeficiency 24 28
Zeta-Associated Protein 70 Deficiency 24
Selective T-Cell Defect 24
Zap70-Related Scid 24
Zap70 Deficiency 69

Classifications:



External Ids:

UMLS 69 C2931299

Summaries for Zap70-Related Severe Combined Immunodeficiency

Genetics Home Reference : 24 ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two.

MalaCards based summary : Zap70-Related Severe Combined Immunodeficiency, also known as zeta-associated protein 70 deficiency, is related to immunodeficiency 48 and combined immunodeficiency, x-linked, and has symptoms including diarrhea Affiliated tissues include t cells and skin.

Related Diseases for Zap70-Related Severe Combined Immunodeficiency

Diseases related to Zap70-Related Severe Combined Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 48 11.9
2 combined immunodeficiency, x-linked 10.0
3 severe combined immunodeficiency 10.0
4 purine nucleoside phosphorylase deficiency 9.7

Symptoms & Phenotypes for Zap70-Related Severe Combined Immunodeficiency

UMLS symptoms related to Zap70-Related Severe Combined Immunodeficiency:


diarrhea

Drugs & Therapeutics for Zap70-Related Severe Combined Immunodeficiency

Search Clinical Trials , NIH Clinical Center for Zap70-Related Severe Combined Immunodeficiency

Genetic Tests for Zap70-Related Severe Combined Immunodeficiency

Genetic tests related to Zap70-Related Severe Combined Immunodeficiency:

# Genetic test Affiliating Genes
1 Zap70-Related Severe Combined Immunodeficiency 28

Anatomical Context for Zap70-Related Severe Combined Immunodeficiency

MalaCards organs/tissues related to Zap70-Related Severe Combined Immunodeficiency:

38
T Cells, Skin

Publications for Zap70-Related Severe Combined Immunodeficiency

Articles related to Zap70-Related Severe Combined Immunodeficiency:

# Title Authors Year
1
ZAP70-Related Severe Combined Immunodeficiency ( 20301777 )
1993

Variations for Zap70-Related Severe Combined Immunodeficiency

Expression for Zap70-Related Severe Combined Immunodeficiency

Search GEO for disease gene expression data for Zap70-Related Severe Combined Immunodeficiency.

Pathways for Zap70-Related Severe Combined Immunodeficiency

GO Terms for Zap70-Related Severe Combined Immunodeficiency

Sources for Zap70-Related Severe Combined Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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