MCID: ZP7002
MIFTS: 17

Zap-70 Deficiency

Categories: Rare diseases, Immune diseases

Aliases & Classifications for Zap-70 Deficiency

MalaCards integrated aliases for Zap-70 Deficiency:

Name: Zap-70 Deficiency 53
Severe Combined Immunodeficiency Due to Zap70 Deficiency 53
Zeta-Associated-Protein 70 Deficiency 53
Zap70 Deficiency 73

Classifications:



External Ids:

UMLS 73 C2931299

Summaries for Zap-70 Deficiency

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 911Disease definitionCombined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.Visit the Orphanet disease page for more resources.

MalaCards based summary : Zap-70 Deficiency, also known as severe combined immunodeficiency due to zap70 deficiency, is related to immunodeficiency 48 and zap70-related severe combined immunodeficiency, and has symptoms including diarrhea An important gene associated with Zap-70 Deficiency is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70). Affiliated tissues include t cells and b cells.

Wikipedia : 76 ZAP70 deficiency, or zeta-chain-associated protein 70 kD deficiency, is a rare autosomal recessive form... more...

Related Diseases for Zap-70 Deficiency

Diseases related to Zap-70 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 48 11.5
2 zap70-related severe combined immunodeficiency 11.5
3 combined immunodeficiency, x-linked 9.9
4 severe combined immunodeficiency 9.9
5 b-cell lymphomas 9.8
6 diffuse large b-cell lymphoma 9.8
7 lymphoma 9.8

Graphical network of the top 20 diseases related to Zap-70 Deficiency:



Diseases related to Zap-70 Deficiency

Symptoms & Phenotypes for Zap-70 Deficiency

UMLS symptoms related to Zap-70 Deficiency:


diarrhea

Drugs & Therapeutics for Zap-70 Deficiency

Search Clinical Trials , NIH Clinical Center for Zap-70 Deficiency

Genetic Tests for Zap-70 Deficiency

Anatomical Context for Zap-70 Deficiency

MalaCards organs/tissues related to Zap-70 Deficiency:

41
T Cells, B Cells

Publications for Zap-70 Deficiency

Articles related to Zap-70 Deficiency:

# Title Authors Year
1
An infant with ZAP-70 deficiency with disseminated mycobacterial disease. ( 26707786 )
2016
2
Immunological reconstitution in a patient with ZAP-70 deficiency following transfusion of blood lymphocytes from a previously transplanted sibling without conditioning. ( 21441961 )
2012
3
Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency. ( 21094993 )
2011
4
[Primary immunodeficiency secondary to ZAP-70 deficiency]. ( 11762183 )
2001
5
SCID due to ZAP-70 deficiency. ( 9407944 )
1997
6
Severe combined immunodeficiency with absence of peripheral blood CD8+ T cells due to ZAP-70 deficiency. ( 7671314 )
1995
7
ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. ( 8202713 )
1994

Variations for Zap-70 Deficiency

Expression for Zap-70 Deficiency

Search GEO for disease gene expression data for Zap-70 Deficiency.

Pathways for Zap-70 Deficiency

GO Terms for Zap-70 Deficiency

Sources for Zap-70 Deficiency

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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