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 25 29
Zeta-Associated Protein 70 Deficiency 25
Selective T-Cell Defect 25
Zap70-Related Scid 25
Zap70 Deficiency 73

Classifications:



External Ids:

UMLS 73 C2931299

Summaries for Zap70-Related Severe Combined Immunodeficiency

Genetics Home Reference : 25 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 29

Anatomical Context for Zap70-Related Severe Combined Immunodeficiency

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

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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