MCID: CRN011
MIFTS: 19

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 severe combined immunodeficiency. An important gene associated with Coronin-1a Deficiency is CORO1A (Coronin 1A), and among its related pathways/superpathways is Primary immunodeficiency. Related phenotypes are Decreased viability and Decreased viability

Related Diseases for Coronin-1a Deficiency

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
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 CD3D CORO1A CORO1B CORO1C DCLRE1C DOCK2
2 immune system MP:0005387 9.32 CD3D CORO1A CORO1B CORO1C DCLRE1C DOCK2

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

Publications for Coronin-1a Deficiency

Articles related to Coronin-1a Deficiency:

# 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:

# Super pathways Score Top Affiliating Genes
1 10.2 DCLRE1C CD3D

GO Terms for Coronin-1a Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.7 TMC8 STK4 ITK GINS1 DOCK8 DOCK2
2 lamellipodium GO:0030027 9.33 CORO1C CORO1B CORO1A
3 cell leading edge GO:0031252 8.8 DOCK8 CORO1B CORO1A

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

# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.58 CORO1C CORO1B CORO1A
2 actin filament organization GO:0007015 9.5 CORO1C CORO1B CORO1A
3 T cell activation GO:0042110 9.37 ITK DOCK2
4 positive thymic T cell selection GO:0045059 9.26 DOCK2 CD3D
5 actin cytoskeleton organization GO:0030036 9.26 DOCK2 CORO1C CORO1B CORO1A
6 positive regulation of lamellipodium morphogenesis GO:2000394 9.16 CORO1C CORO1B
7 immunological synapse formation GO:0001771 8.8 DOCK8 DOCK2 CORO1A

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

# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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