MCID: ZP7001
MIFTS: 19

Zap70-Related Severe Combined Immunodeficiency

Categories: Immune diseases
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Aliases & Classifications for Zap70-Related Severe Combined Immunodeficiency

MalaCards integrated aliases for Zap70-Related Severe Combined Immunodeficiency:

Name: Zap70-Related Severe Combined Immunodeficiency 42 28 5
Zeta-Associated Protein 70 Deficiency 42
Selective T-Cell Defect 42
Zap70-Related Scid 42
Zap70 Deficiency 71

Classifications:



External Ids:

UMLS 71 C2931299

Summaries for Zap70-Related Severe Combined Immunodeficiency

MedlinePlus Genetics: 42 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.Most individuals with ZAP70-related SCID are diagnosed in the first 6 months of life. At least one individual first showed signs of the condition later in childhood and had less severe symptoms, primarily recurrent respiratory and skin infections.

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 and t 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 11.7
2 zap-70 deficiency 11.5
3 purine nucleoside phosphorylase deficiency 10.0

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

Organs/tissues related to Zap70-Related Severe Combined Immunodeficiency:

MalaCards : Skin, T Cells

Publications for Zap70-Related Severe Combined Immunodeficiency

Articles related to Zap70-Related Severe Combined Immunodeficiency:

# Title Authors PMID Year
1
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India. 5
30778343 2019
2
Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder. 5
28124082 2017
3
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
4
Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. 5
8202712 1994
5
Defective immuno- and thymoproteasome assembly causes severe immunodeficiency. 62
29654304 2018
6
Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion. 62
8674245 1996
7
Relevance of anti-T monoclonal antibodies in the study of children with primary immunodeficiencies. 62
2992541 1985
8
The metabolism of deoxyguanosine and guanosine in human B and T lymphoblasts. A role for deoxyguanosine kinase activity in the selective T-cell defect associated with purine nucleoside phosphorylase deficiency. 62
6312962 1983
9
Phosphorylation of deoxyguanosine by B and T lymphocytes: evidence against selective trapping of deoxyguanosine by T lymphocytes in purine nucleoside phosphorylase deficiency. 62
6783354 1980

Variations for Zap70-Related Severe Combined Immunodeficiency

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

5 (show top 50) (show all 264)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZAP70 NM_001079.4(ZAP70):c.1518C>A (p.Tyr506Ter) SNV Pathogenic
1390316 GRCh37: 2:98354255-98354255
GRCh38: 2:97737792-97737792
2 ZAP70 NM_001079.4(ZAP70):c.847C>T (p.Arg283Ter) SNV Pathogenic
1455724 GRCh37: 2:98350016-98350016
GRCh38: 2:97733553-97733553
3 ZAP70 NM_001079.4(ZAP70):c.475G>T (p.Glu159Ter) SNV Pathogenic
1072344 GRCh37: 2:98341627-98341627
GRCh38: 2:97725164-97725164
4 ZAP70 NM_001079.4(ZAP70):c.261C>G (p.Tyr87Ter) SNV Pathogenic
954252 rs200679671 GRCh37: 2:98340760-98340760
GRCh38: 2:97724297-97724297
5 ZAP70 NM_001079.4(ZAP70):c.1247dup (p.Met416fs) DUP Pathogenic
567226 rs1559328006 GRCh37: 2:98351876-98351877
GRCh38: 2:97735413-97735414
6 ZAP70 NM_001079.4(ZAP70):c.703-1G>A SNV Pathogenic
1394530 GRCh37: 2:98349587-98349587
GRCh38: 2:97733124-97733124
7 ZAP70 NM_001079.4(ZAP70):c.1624-11G>A SNV Pathogenic
13253 rs730880318 GRCh37: 2:98354447-98354447
GRCh38: 2:97737984-97737984
8 ZAP70 NM_001079.4(ZAP70):c.791-1G>A SNV Likely Pathogenic
861386 rs1677695565 GRCh37: 2:98349759-98349759
GRCh38: 2:97733296-97733296
9 ZAP70 NM_001079.4(ZAP70):c.1623G>A (p.Lys541=) SNV Uncertain Significance
944278 rs1677970142 GRCh37: 2:98354360-98354360
GRCh38: 2:97737897-97737897
10 ZAP70 NM_001079.4(ZAP70):c.790+6G>A SNV Uncertain Significance
899341 rs200018109 GRCh37: 2:98349681-98349681
GRCh38: 2:97733218-97733218
11 ZAP70 NM_001079.4(ZAP70):c.940G>A (p.Val314Met) SNV Uncertain Significance
636456 rs200679935 GRCh37: 2:98351033-98351033
GRCh38: 2:97734570-97734570
12 ZAP70 NC_000002.12:g.(?_97737453)_(97739518_?)del DEL Uncertain Significance
831747 GRCh37: 2:98353916-98355981
GRCh38:
13 ZAP70 NM_001079.4(ZAP70):c.7G>C (p.Asp3His) SNV Uncertain Significance
538567 rs1009114725 GRCh37: 2:98340506-98340506
GRCh38: 2:97724043-97724043
14 ZAP70 NM_001079.4(ZAP70):c.973C>T (p.Leu325Phe) SNV Uncertain Significance
640017 rs200511463 GRCh37: 2:98351066-98351066
GRCh38: 2:97734603-97734603
15 ZAP70 NM_001079.4(ZAP70):c.935C>T (p.Thr312Met) SNV Uncertain Significance
640029 rs903840321 GRCh37: 2:98351028-98351028
GRCh38: 2:97734565-97734565
16 ZAP70 NM_001079.4(ZAP70):c.1018G>A (p.Ala340Thr) SNV Uncertain Significance
640510 rs1559327232 GRCh37: 2:98351111-98351111
GRCh38: 2:97734648-97734648
17 ZAP70 NM_001079.4(ZAP70):c.1753G>A (p.Asp585Asn) SNV Uncertain Significance
642248 rs200648080 GRCh37: 2:98355854-98355854
GRCh38: 2:97739391-97739391
18 ZAP70 NM_001079.4(ZAP70):c.1832C>T (p.Thr611Ile) SNV Uncertain Significance
337639 rs371359430 GRCh37: 2:98355933-98355933
GRCh38: 2:97739470-97739470
19 ZAP70 NM_001079.4(ZAP70):c.80C>A (p.Ala27Glu) SNV Uncertain Significance
646277 rs373708142 GRCh37: 2:98340579-98340579
GRCh38: 2:97724116-97724116
20 ZAP70 NM_001079.4(ZAP70):c.1765G>A (p.Val589Met) SNV Uncertain Significance
646832 rs149605945 GRCh37: 2:98355866-98355866
GRCh38: 2:97739403-97739403
21 ZAP70 NM_001079.4(ZAP70):c.302C>A (p.Pro101Gln) SNV Uncertain Significance
651969 rs1573262435 GRCh37: 2:98340801-98340801
GRCh38: 2:97724338-97724338
22 ZAP70 NM_001079.4(ZAP70):c.1139C>T (p.Thr380Met) SNV Uncertain Significance
654054 rs1573284696 GRCh37: 2:98351769-98351769
GRCh38: 2:97735306-97735306
23 ZAP70 NM_001079.4(ZAP70):c.791-3C>T SNV Uncertain Significance
658581 rs200430850 GRCh37: 2:98349757-98349757
GRCh38: 2:97733294-97733294
24 ZAP70 NM_001079.4(ZAP70):c.1529_1532dup (p.Ile511fs) DUP Uncertain Significance
659957 rs770985198 GRCh37: 2:98354263-98354264
GRCh38: 2:97737800-97737801
25 ZAP70 NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly) SNV Uncertain Significance
659958 rs1573261820 GRCh37: 2:98340608-98340608
GRCh38: 2:97724145-97724145
26 ZAP70 NM_001079.4(ZAP70):c.1115A>C (p.Lys372Thr) SNV Uncertain Significance
662568 rs1573284622 GRCh37: 2:98351745-98351745
GRCh38: 2:97735282-97735282
27 ZAP70 NM_001079.4(ZAP70):c.1737-3C>T SNV Uncertain Significance
337638 rs56249179 GRCh37: 2:98355835-98355835
GRCh38: 2:97739372-97739372
28 ZAP70 NM_001079.4(ZAP70):c.1415G>A (p.Arg472Gln) SNV Uncertain Significance
538568 rs758807149 GRCh37: 2:98354061-98354061
GRCh38: 2:97737598-97737598
29 ZAP70 NM_001079.4(ZAP70):c.827C>T (p.Thr276Met) SNV Uncertain Significance
565808 rs199502727 GRCh37: 2:98349796-98349796
GRCh38: 2:97733333-97733333
30 ZAP70 NM_001079.4(ZAP70):c.620C>T (p.Thr207Met) SNV Uncertain Significance
546868 rs141564129 GRCh37: 2:98349402-98349402
GRCh38: 2:97732939-97732939
31 ZAP70 NM_001079.4(ZAP70):c.1190A>G (p.Tyr397Cys) SNV Uncertain Significance
642687 rs200097002 GRCh37: 2:98351820-98351820
GRCh38: 2:97735357-97735357
32 ZAP70 NM_001079.4(ZAP70):c.1556G>A (p.Arg519His) SNV Uncertain Significance
650235 rs201003454 GRCh37: 2:98354293-98354293
GRCh38: 2:97737830-97737830
33 ZAP70 NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe) SNV Uncertain Significance
659011 rs371574765 GRCh37: 2:98351081-98351081
GRCh38: 2:97734618-97734618
34 ZAP70 NM_001079.4(ZAP70):c.1468G>A (p.Asp490Asn) SNV Uncertain Significance
662682 rs56059280 GRCh37: 2:98354114-98354114
GRCh38: 2:97737651-97737651
35 ZAP70 NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) SNV Uncertain Significance
337637 rs150950017 GRCh37: 2:98354479-98354479
GRCh38: 2:97738016-97738016
36 ZAP70 NM_001079.4(ZAP70):c.1797C>G (p.Ser599Arg) SNV Uncertain Significance
935495 rs148332283 GRCh37: 2:98355898-98355898
GRCh38: 2:97739435-97739435
37 ZAP70 NM_001079.4(ZAP70):c.1153C>T (p.Arg385Cys) SNV Uncertain Significance
1008659 rs199944085 GRCh37: 2:98351783-98351783
GRCh38: 2:97735320-97735320
38 ZAP70 NM_001079.4(ZAP70):c.422C>G (p.Ala141Gly) SNV Uncertain Significance
1393109 GRCh37: 2:98341574-98341574
GRCh38: 2:97725111-97725111
39 ZAP70 NM_001079.4(ZAP70):c.1429A>G (p.Ile477Val) SNV Uncertain Significance
573039 rs1559329401 GRCh37: 2:98354075-98354075
GRCh38: 2:97737612-97737612
40 ZAP70 NM_001079.4(ZAP70):c.1282G>A (p.Gly428Ser) SNV Uncertain Significance
1037539 rs149448335 GRCh37: 2:98351912-98351912
GRCh38: 2:97735449-97735449
41 ZAP70 NM_001079.4(ZAP70):c.733G>A (p.Gly245Arg) SNV Uncertain Significance
1053871 GRCh37: 2:98349618-98349618
GRCh38: 2:97733155-97733155
42 ZAP70 NM_001079.4(ZAP70):c.1155C>T (p.Arg385=) SNV Uncertain Significance
36914 rs193922633 GRCh37: 2:98351785-98351785
GRCh38: 2:97735322-97735322
43 ZAP70 NM_001079.4(ZAP70):c.671C>T (p.Pro224Leu) SNV Uncertain Significance
1430652 GRCh37: 2:98349453-98349453
GRCh38: 2:97732990-97732990
44 ZAP70 NM_001079.4(ZAP70):c.402+6A>G SNV Uncertain Significance
1466173 GRCh37: 2:98340907-98340907
GRCh38: 2:97724444-97724444
45 ZAP70 NM_001079.4(ZAP70):c.608T>A (p.Ile203Asn) SNV Uncertain Significance
1487014 GRCh37: 2:98349390-98349390
GRCh38: 2:97732927-97732927
46 ZAP70 NM_001079.4(ZAP70):c.1240A>G (p.Met414Val) SNV Uncertain Significance
1491443 GRCh37: 2:98351870-98351870
GRCh38: 2:97735407-97735407
47 ZAP70 NM_001079.4(ZAP70):c.1220C>G (p.Ala407Gly) SNV Uncertain Significance
1491795 GRCh37: 2:98351850-98351850
GRCh38: 2:97735387-97735387
48 ZAP70 NM_001079.4(ZAP70):c.790+15C>T SNV Uncertain Significance
1493336 GRCh37: 2:98349690-98349690
GRCh38: 2:97733227-97733227
49 ZAP70 NM_001079.4(ZAP70):c.643C>G (p.Gln215Glu) SNV Uncertain Significance
1513750 GRCh37: 2:98349425-98349425
GRCh38: 2:97732962-97732962
50 ZAP70 NM_001079.4(ZAP70):c.1837A>T (p.Lys613Ter) SNV Uncertain Significance
1517997 GRCh37: 2:98355938-98355938
GRCh38: 2:97739475-97739475

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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