MCID: ZP7001
MIFTS: 14

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 6
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 zap-70 deficiency, and has symptoms including diarrhea An important gene associated with Zap70-Related Severe Combined Immunodeficiency is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70). Affiliated tissues include skin, t cells and b cells.

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 12.0
2 zap-70 deficiency 11.6
3 severe combined immunodeficiency 10.1
4 combined t cell and b cell immunodeficiency 10.1
5 purine nucleoside phosphorylase deficiency 9.8

Graphical network of the top 20 diseases related to Zap70-Related Severe Combined Immunodeficiency:



Diseases related to Zap70-Related Severe Combined Immunodeficiency

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
Skin, T Cells, B Cells

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

ClinVar genetic disease variations for Zap70-Related Severe Combined Immunodeficiency:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZAP70 NM_001079.3(ZAP70): c.1025T> C (p.Ile342Thr) single nucleotide variant Uncertain significance rs142702703 GRCh37 Chromosome 2, 98351118: 98351118
2 ZAP70 NM_001079.3(ZAP70): c.1025T> C (p.Ile342Thr) single nucleotide variant Uncertain significance rs142702703 GRCh38 Chromosome 2, 97734655: 97734655
3 ZAP70 NM_001079.3(ZAP70): c.620C> T (p.Thr207Met) single nucleotide variant Uncertain significance rs141564129 GRCh37 Chromosome 2, 98349402: 98349402
4 ZAP70 NM_001079.3(ZAP70): c.620C> T (p.Thr207Met) single nucleotide variant Uncertain significance rs141564129 GRCh38 Chromosome 2, 97732939: 97732939
5 ZAP70 NM_001079.3(ZAP70): c.1247dup (p.Met416Ilefs) duplication Pathogenic GRCh38 Chromosome 2, 97735414: 97735414
6 ZAP70 NM_001079.3(ZAP70): c.1247dup (p.Met416Ilefs) duplication Pathogenic GRCh37 Chromosome 2, 98351877: 98351877
7 ZAP70 NM_001079.3(ZAP70): c.981C> G (p.Asp327Glu) single nucleotide variant Uncertain significance rs201605654 GRCh38 Chromosome 2, 97734611: 97734611
8 ZAP70 NM_001079.3(ZAP70): c.981C> G (p.Asp327Glu) single nucleotide variant Uncertain significance rs201605654 GRCh37 Chromosome 2, 98351074: 98351074
9 ZAP70 NM_001079.3(ZAP70): c.1757T> C (p.Phe586Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 97739395: 97739395
10 ZAP70 NM_001079.3(ZAP70): c.1757T> C (p.Phe586Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 98355858: 98355858
11 ZAP70 NM_001079.3(ZAP70): c.827C> T (p.Thr276Met) single nucleotide variant Uncertain significance rs199502727 GRCh38 Chromosome 2, 97733333: 97733333
12 ZAP70 NM_001079.3(ZAP70): c.827C> T (p.Thr276Met) single nucleotide variant Uncertain significance rs199502727 GRCh37 Chromosome 2, 98349796: 98349796
13 ZAP70 NM_001079.3(ZAP70): c.914C> T (p.Pro305Leu) single nucleotide variant Uncertain significance rs762428344 GRCh38 Chromosome 2, 97734544: 97734544
14 ZAP70 NM_001079.3(ZAP70): c.914C> T (p.Pro305Leu) single nucleotide variant Uncertain significance rs762428344 GRCh37 Chromosome 2, 98351007: 98351007
15 ZAP70 NM_001079.3(ZAP70): c.1429A> G (p.Ile477Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 97737612: 97737612
16 ZAP70 NM_001079.3(ZAP70): c.1429A> G (p.Ile477Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 98354075: 98354075
17 ZAP70 NM_001079.3(ZAP70): c.1490C> T (p.Ser497Leu) single nucleotide variant Uncertain significance rs149765220 GRCh38 Chromosome 2, 97737764: 97737764
18 ZAP70 NM_001079.3(ZAP70): c.1490C> T (p.Ser497Leu) single nucleotide variant Uncertain significance rs149765220 GRCh37 Chromosome 2, 98354227: 98354227
19 ZAP70 NM_001079.3(ZAP70): c.1591G> A (p.Glu531Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 97737865: 97737865
20 ZAP70 NM_001079.3(ZAP70): c.1591G> A (p.Glu531Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 98354328: 98354328

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

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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