MCID: CRN011
MIFTS: 23

Coronin-1a Deficiency

Categories: Immune diseases

Aliases & Classifications for Coronin-1a Deficiency

MalaCards integrated aliases for Coronin-1a Deficiency:

Name: Coronin-1a Deficiency 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060019

Summaries for Coronin-1a Deficiency

Disease Ontology : 12 A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.

MalaCards based summary : Coronin-1a Deficiency is related to lymphopenia and immunodeficiency 8. An important gene associated with Coronin-1a Deficiency is CORO1A (Coronin 1A), and among its related pathways/superpathways are CCR5 Pathway in Macrophages and ICos-ICosL Pathway in T-Helper Cell. Affiliated tissues include b cells, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Coronin-1a Deficiency

Diseases related to Coronin-1a Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 26, show less)
# Related Disease Score Top Affiliating Genes
1 lymphopenia 28.9 RAG1 MAGT1 ITK DOCK2 CORO1A
2 immunodeficiency 8 11.8
3 selective immunoglobulin deficiency disease 10.2 SH2D1A MAGT1
4 dysgammaglobulinemia 10.1 SH2D1A MAGT1
5 immunodeficiency 17 10.1 DOCK8 CD3D
6 immune deficiency disease 10.1
7 immunodeficiency 18 10.0 RAG1 CD3D
8 lymphoproliferative syndrome 1 9.9 SH2D1A ITK
9 lymphoproliferative syndrome, x-linked, 2 9.9 SH2D1A ITK
10 t cell deficiency 9.9 RAG1 DOCK8 CORO1A
11 cd40 ligand deficiency 9.9 SH2D1A DOCK8
12 immunodeficiency 19 9.9 DOCK2 CORO1A CD3D
13 purine nucleoside phosphorylase deficiency 9.9 RAG1 AK2
14 adenosine deaminase deficiency 9.9 RAG1 CD3D
15 reticular dysgenesis 9.8 RAG1 AK2
16 lymphoproliferative syndrome, x-linked, 1 9.8 SH2D1A MAGT1 ITK
17 epidermodysplasia verruciformis 1 9.8 STK4 DOCK8 CORO1A
18 b cell deficiency 9.8 SH2D1A RAG1 DOCK8
19 autoimmune lymphoproliferative syndrome 9.8 SH2D1A RAG1 MAGT1
20 immunodeficiency with hyper-igm, type 1 9.6 SH2D1A RAG1
21 bare lymphocyte syndrome, type ii 9.5 RAG1 DOCK8 CD3D AK2
22 severe combined immunodeficiency 9.5 RAG1 CORO1A CD3D AK2
23 lymphoproliferative syndrome 2 9.2 STK4 SH2D1A MAGT1 ITK CORO1A
24 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 9.0 SH2D1A PLCG1 MAGT1 ITK DOCK8
25 omenn syndrome 8.9 SH2D1A RAG1 MAGT1 DOCK8 CORO1A CD3D
26 combined t cell and b cell immunodeficiency 8.9 SH2D1A RAG1 MAGT1 DOCK8 CORO1A CD3D

Graphical network of the top 20 diseases related to Coronin-1a Deficiency:



Diseases related to Coronin-1a Deficiency

Symptoms & Phenotypes for Coronin-1a Deficiency

GenomeRNAi Phenotypes related to Coronin-1a Deficiency according to GeneCards Suite gene sharing:

26 (showing 7, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.32 AK2
2 Decreased viability GR00221-A-3 9.32 STK4
3 Decreased viability GR00221-A-4 9.32 AK2 ITK
4 Decreased viability GR00249-S 9.32 ITK
5 Decreased viability GR00301-A 9.32 AK2 ITK STK4
6 Decreased viability GR00342-S-2 9.32 AK2
7 Decreased viability GR00342-S-3 9.32 AK2

MGI Mouse Phenotypes related to Coronin-1a Deficiency:

45 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.76 CORO1A DOCK2 DOCK8 ITK PLCG1 RAG1
2 hematopoietic system MP:0005397 9.7 CD3D CORO1A CORO1B DOCK2 DOCK8 ITK
3 immune system MP:0005387 9.4 CD3D CORO1A CORO1B CORO1C DOCK2 DOCK8

Drugs & Therapeutics for Coronin-1a Deficiency

Search Clinical Trials , NIH Clinical Center for Coronin-1a Deficiency

Genetic Tests for Coronin-1a Deficiency

Anatomical Context for Coronin-1a Deficiency

MalaCards organs/tissues related to Coronin-1a Deficiency:

40
B Cells

Publications for Coronin-1a Deficiency

Articles related to Coronin-1a Deficiency:

(showing 5, show less)
# Title Authors PMID Year
1
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders. 61
30607663 2019
2
The expanding spectrum of human coronin 1A deficiency. 61
25269405 2014
3
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. 61
25073507 2014
4
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. 61
23522482 2013
5
Mast cell function is not altered by Coronin-1A deficiency. 61
20643816 2010

Variations for Coronin-1a Deficiency

Expression for Coronin-1a Deficiency

Search GEO for disease gene expression data for Coronin-1a Deficiency.

Pathways for Coronin-1a Deficiency

Pathways related to Coronin-1a Deficiency according to GeneCards Suite gene sharing:

(showing 8, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 PLCG1 ITK DOCK2 CD3D
2
Show member pathways
11.99 PLCG1 ITK CD3D
3
Show member pathways
11.89 PLCG1 ITK CD3D
4
Show member pathways
11.17 PLCG1 ITK CD3D
5 11.02 PLCG1 ITK
6 10.9 RAG1 CD3D
7
Show member pathways
10.83 PLCG1 ITK CD3D
8 10.65 PLCG1 ITK

GO Terms for Coronin-1a Deficiency

Cellular components related to Coronin-1a Deficiency according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.9 STK4 SH2D1A PLCG1 ITK DOCK8 DOCK2
2 cell-cell junction GO:0005911 9.43 PLCG1 ITK CORO1A
3 cell leading edge GO:0031252 9.13 DOCK8 CORO1B CORO1A
4 lamellipodium GO:0030027 8.92 PLCG1 CORO1C CORO1B CORO1A

Biological processes related to Coronin-1a Deficiency according to GeneCards Suite gene sharing:

(showing 11, show less)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.73 SH2D1A RAG1 ITK CD3D
2 T cell receptor signaling pathway GO:0050852 9.63 PLCG1 ITK CD3D
3 actin filament organization GO:0007015 9.58 CORO1C CORO1B CORO1A
4 cell migration GO:0016477 9.56 PLCG1 CORO1C CORO1B CORO1A
5 activation of phospholipase C activity GO:0007202 9.49 PLCG1 ITK
6 T cell homeostasis GO:0043029 9.48 RAG1 CORO1A
7 positive thymic T cell selection GO:0045059 9.37 DOCK2 CD3D
8 negative regulation of T cell apoptotic process GO:0070233 9.32 RAG1 DOCK8
9 actin cytoskeleton organization GO:0030036 9.26 DOCK2 CORO1C CORO1B CORO1A
10 positive regulation of lamellipodium morphogenesis GO:2000394 9.16 CORO1C CORO1B
11 immunological synapse formation GO:0001771 8.8 DOCK8 DOCK2 CORO1A

Molecular functions related to Coronin-1a Deficiency according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 8.8 CORO1C CORO1B CORO1A

Sources for Coronin-1a Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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