MCID: SVR011
MIFTS: 12

Severe Combined Immunodeficiency, Atypical

Categories: Immune diseases, Rare diseases

Aliases & Classifications for Severe Combined Immunodeficiency, Atypical

MalaCards integrated aliases for Severe Combined Immunodeficiency, Atypical:

Name: Severe Combined Immunodeficiency, Atypical 20 6
Scid, Atypical 20

Classifications:



Summaries for Severe Combined Immunodeficiency, Atypical

MalaCards based summary : Severe Combined Immunodeficiency, Atypical, also known as scid, atypical, is related to immunodeficiency 48. An important gene associated with Severe Combined Immunodeficiency, Atypical is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70).

Related Diseases for Severe Combined Immunodeficiency, Atypical

Diseases related to Severe Combined Immunodeficiency, Atypical via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 48 11.3

Symptoms & Phenotypes for Severe Combined Immunodeficiency, Atypical

Drugs & Therapeutics for Severe Combined Immunodeficiency, Atypical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Clinical Utility and Cost Effectiveness Ratio of Generalized Neonatal Screening for Severe Combined Immunodeficiencies (SCID) by Quantification of TRECs on Guthrie Cards Completed NCT02244450

Search NIH Clinical Center for Severe Combined Immunodeficiency, Atypical

Genetic Tests for Severe Combined Immunodeficiency, Atypical

Anatomical Context for Severe Combined Immunodeficiency, Atypical

Publications for Severe Combined Immunodeficiency, Atypical

Articles related to Severe Combined Immunodeficiency, Atypical:

# Title Authors PMID Year
1
Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling. 6
11412303 2001
2
Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. 6
8202712 1994
3
ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. 6
8202713 1994
4
Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. 6
8124727 1994
5
Mutational landscape of severe combined immunodeficiency patients from Turkey. 61
32445296 2020

Variations for Severe Combined Immunodeficiency, Atypical

ClinVar genetic disease variations for Severe Combined Immunodeficiency, Atypical:

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZAP70 NM_001079.3(ZAP70):c.1624-11G>A SNV Pathogenic 13253 rs730880318 GRCh37: 2:98354447-98354447
GRCh38: 2:97737984-97737984
2 ZAP70 NM_001079.3(ZAP70):c.1510_1522del (p.Lys504fs) Deletion Pathogenic 13256 rs730880319 GRCh37: 2:98354246-98354258
GRCh38: 2:97737783-97737795
3 ZAP70 NM_001079.3(ZAP70):c.1393C>T (p.Arg465Cys) SNV Pathogenic 38912 rs113994174 GRCh37: 2:98354039-98354039
GRCh38: 2:97737576-97737576
4 ZAP70 NM_001079.3(ZAP70):c.1554C>A (p.Ser518Arg) SNV Pathogenic 13255 rs104893674 GRCh37: 2:98354291-98354291
GRCh38: 2:97737828-97737828
5 ZAP70 NM_001079.3(ZAP70):c.838-80G>A SNV Pathogenic 41039 rs113994173 GRCh37: 2:98349927-98349927
GRCh38: 2:97733464-97733464
6 ZAP70 NM_001079.3(ZAP70):c.1394G>A (p.Arg465His) SNV Pathogenic 13257 rs137853201 GRCh37: 2:98354040-98354040
GRCh38: 2:97737577-97737577
7 ZAP70 NM_001079.3(ZAP70):c.1832C>T (p.Thr611Ile) SNV Uncertain significance 337639 rs371359430 GRCh37: 2:98355933-98355933
GRCh38: 2:97739470-97739470
8 ZAP70 NM_001079.3(ZAP70):c.1078C>T (p.Arg360Cys) SNV Uncertain significance 636360 rs781463009 GRCh37: 2:98351171-98351171
GRCh38: 2:97734708-97734708
9 ZAP70 NM_001079.3(ZAP70):c.1645A>G (p.Met549Val) SNV Uncertain significance 337637 rs150950017 GRCh37: 2:98354479-98354479
GRCh38: 2:97738016-97738016
10 ZAP70 NM_001079.3(ZAP70):c.1289+10G>A SNV Uncertain significance 538573 rs200538234 GRCh37: 2:98351929-98351929
GRCh38: 2:97735466-97735466
11 ZAP70 NM_001079.3(ZAP70):c.1082+8C>T SNV Uncertain significance 471240 rs55933862 GRCh37: 2:98351183-98351183
GRCh38: 2:97734720-97734720
12 ZAP70 NC_000002.12:g.97713558G>A SNV Uncertain significance 895190 GRCh37: 2:98330021-98330021
GRCh38: 2:97713558-97713558
13 ZAP70 NM_001079.4(ZAP70):c.920C>T (p.Pro307Leu) SNV Uncertain significance 895248 GRCh37: 2:98351013-98351013
GRCh38: 2:97734550-97734550
14 ZAP70 NM_001079.3(ZAP70):c.-133C>T SNV Uncertain significance 337622 rs201616095 GRCh37: 2:98330105-98330105
GRCh38: 2:97713642-97713642
15 ZAP70 NM_001079.3(ZAP70):c.1467C>T (p.Asp489=) SNV Uncertain significance 389802 rs55997284 GRCh37: 2:98354113-98354113
GRCh38: 2:97737650-97737650
16 ZAP70 NM_001079.3(ZAP70):c.837+6T>C SNV Uncertain significance 337633 rs199639189 GRCh37: 2:98349812-98349812
GRCh38: 2:97733349-97733349
17 ZAP70 NM_001079.4(ZAP70):c.403-3T>C SNV Uncertain significance 844991 GRCh37: 2:98341552-98341552
GRCh38: 2:97725089-97725089
18 ZAP70 NM_001079.3(ZAP70):c.1737-3C>T SNV Uncertain significance 337638 rs56249179 GRCh37: 2:98355835-98355835
GRCh38: 2:97739372-97739372
19 ZAP70 NM_001079.3(ZAP70):c.*161G>A SNV Uncertain significance 337641 rs886056486 GRCh37: 2:98356122-98356122
GRCh38: 2:97739659-97739659
20 ZAP70 NM_001079.3(ZAP70):c.156C>T (p.His52=) SNV Uncertain significance 337627 rs138447206 GRCh37: 2:98340655-98340655
GRCh38: 2:97724192-97724192
21 ZAP70 NM_001079.3(ZAP70):c.1083-3C>A SNV Uncertain significance 337635 rs199890589 GRCh37: 2:98351710-98351710
GRCh38: 2:97735247-97735247
22 ZAP70 NM_001079.3(ZAP70):c.606C>T (p.Leu202=) SNV Uncertain significance 337630 rs199943332 GRCh37: 2:98349388-98349388
GRCh38: 2:97732925-97732925
23 ZAP70 NM_001079.3(ZAP70):c.*328C>T SNV Uncertain significance 337643 rs201790312 GRCh37: 2:98356289-98356289
GRCh38: 2:97739826-97739826
24 ZAP70 NM_001079.3(ZAP70):c.516G>A (p.Glu172=) SNV Uncertain significance 337629 rs886056485 GRCh37: 2:98341668-98341668
GRCh38: 2:97725205-97725205
25 ZAP70 NM_001079.3(ZAP70):c.1617C>T (p.Pro539=) SNV Uncertain significance 337636 rs189807102 GRCh37: 2:98354354-98354354
GRCh38: 2:97737891-97737891
26 ZAP70 NM_001079.3(ZAP70):c.1025T>C (p.Ile342Thr) SNV Uncertain significance 337634 rs142702703 GRCh37: 2:98351118-98351118
GRCh38: 2:97734655-97734655
27 ZAP70 NM_001079.3(ZAP70):c.981C>G (p.Asp327Glu) SNV Uncertain significance 583386 rs201605654 GRCh37: 2:98351074-98351074
GRCh38: 2:97734611-97734611
28 ZAP70 NM_001079.3(ZAP70):c.988C>T (p.Leu330Phe) SNV Uncertain significance 659011 rs371574765 GRCh37: 2:98351081-98351081
GRCh38: 2:97734618-97734618
29 ZAP70 NM_001079.4(ZAP70):c.1392C>A (p.Ala464=) SNV Uncertain significance 895249 GRCh37: 2:98354038-98354038
GRCh38: 2:97737575-97737575
30 ZAP70 NM_001079.3(ZAP70):c.80C>A (p.Ala27Glu) SNV Uncertain significance 646277 rs373708142 GRCh37: 2:98340579-98340579
GRCh38: 2:97724116-97724116
31 ZAP70 NM_001079.4(ZAP70):c.199G>T (p.Gly67Cys) SNV Uncertain significance 896604 GRCh37: 2:98340698-98340698
GRCh38: 2:97724235-97724235
32 ZAP70 NM_001079.4(ZAP70):c.1624-12C>T SNV Uncertain significance 896681 GRCh37: 2:98354446-98354446
GRCh38: 2:97737983-97737983
33 ZAP70 NM_001079.3(ZAP70):c.1656C>T (p.Ile552=) SNV Uncertain significance 471241 rs150096962 GRCh37: 2:98354490-98354490
GRCh38: 2:97738027-97738027
34 ZAP70 NM_001079.4(ZAP70):c.1737-7C>T SNV Uncertain significance 896682 GRCh37: 2:98355831-98355831
GRCh38: 2:97739368-97739368
35 ZAP70 NM_001079.4(ZAP70):c.*11C>A SNV Uncertain significance 897132 GRCh37: 2:98355972-98355972
GRCh38: 2:97739509-97739509
36 ZAP70 NM_001079.4(ZAP70):c.*48C>T SNV Uncertain significance 897133 GRCh37: 2:98356009-98356009
GRCh38: 2:97739546-97739546
37 ZAP70 NM_001079.4(ZAP70):c.*228G>A SNV Uncertain significance 897134 GRCh37: 2:98356189-98356189
GRCh38: 2:97739726-97739726
38 ZAP70 NM_001079.4(ZAP70):c.*274G>A SNV Uncertain significance 897135 GRCh37: 2:98356235-98356235
GRCh38: 2:97739772-97739772
39 ZAP70 NM_001079.4(ZAP70):c.467C>G (p.Thr156Arg) SNV Uncertain significance 898230 GRCh37: 2:98341619-98341619
GRCh38: 2:97725156-97725156
40 ZAP70 NM_001079.4(ZAP70):c.655G>A (p.Gly219Ser) SNV Uncertain significance 899339 GRCh37: 2:98349437-98349437
GRCh38: 2:97732974-97732974
41 ZAP70 NM_001079.4(ZAP70):c.729G>A (p.Ala243=) SNV Uncertain significance 899340 GRCh37: 2:98349614-98349614
GRCh38: 2:97733151-97733151
42 ZAP70 NM_001079.4(ZAP70):c.790+6G>A SNV Uncertain significance 899341 GRCh37: 2:98349681-98349681
GRCh38: 2:97733218-97733218
43 ZAP70 NM_001079.3(ZAP70):c.828G>A (p.Thr276=) SNV Uncertain significance 706118 rs200797733 GRCh37: 2:98349797-98349797
GRCh38: 2:97733334-97733334
44 ZAP70 NM_001079.3(ZAP70):c.1082+8C>T SNV Likely benign 471240 rs55933862 GRCh37: 2:98351183-98351183
GRCh38: 2:97734720-97734720
45 ZAP70 NM_001079.3(ZAP70):c.474C>T (p.His158=) SNV Likely benign 716835 rs56404668 GRCh37: 2:98341626-98341626
GRCh38: 2:97725163-97725163
46 ZAP70 NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly) SNV Likely benign 898231 GRCh37: 2:98341664-98341664
GRCh38: 2:97725201-97725201
47 ZAP70 NM_001079.3(ZAP70):c.672C>T (p.Pro224=) SNV Likely benign 337631 rs56340622 GRCh37: 2:98349454-98349454
GRCh38: 2:97732991-97732991
48 ZAP70 NM_001079.3(ZAP70):c.810C>T (p.Leu270=) SNV Likely benign 337632 rs143181735 GRCh37: 2:98349779-98349779
GRCh38: 2:97733316-97733316
49 ZAP70 NM_001079.3(ZAP70):c.-177C>A SNV Likely benign 337621 rs56408911 GRCh37: 2:98330061-98330061
GRCh38: 2:97713598-97713598
50 ZAP70 NM_001079.3(ZAP70):c.939C>G (p.Ser313Arg) SNV Likely benign 705712 rs145218891 GRCh37: 2:98351032-98351032
GRCh38: 2:97734569-97734569

Expression for Severe Combined Immunodeficiency, Atypical

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Pathways for Severe Combined Immunodeficiency, Atypical

GO Terms for Severe Combined Immunodeficiency, Atypical

Sources for Severe Combined Immunodeficiency, Atypical

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