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 immunodeficiency 8 and lymphopenia. An important gene associated with Coronin-1a Deficiency is CORO1A (Coronin 1A), and among its related pathways/superpathways are CXCR4-mediated signaling events and B Cell Development Pathways. Affiliated tissues include b cells, and related phenotypes are digestive/alimentary and endocrine/exocrine gland

Related Diseases for Coronin-1a Deficiency

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

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 8 11.8
2 lymphopenia 10.1
3 human immunodeficiency virus infectious disease 9.8 CXCR4 CD4
4 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.7 CXCR4 CD4
5 viral infectious disease 9.5 CXCR4 CD4

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



Diseases related to Coronin-1a Deficiency

Symptoms & Phenotypes for Coronin-1a Deficiency

MGI Mouse Phenotypes related to Coronin-1a Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.46 CD4 CORO1C CXCR4 LIG4
2 endocrine/exocrine gland MP:0005379 9.35 CD4 CORO1A CORO1C CXCR4 LIG4
3 immune system MP:0005387 9.1 CD4 CORO1A CORO1B CORO1C CXCR4 LIG4

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:

41
B Cells

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. 38
30607663 2019
2
The expanding spectrum of human coronin 1A deficiency. 38
25269405 2014
3
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. 38
25073507 2014
4
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. 38
23522482 2013
5
Mast cell function is not altered by Coronin-1A deficiency. 38
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 10.84 CXCR4 CD4
2 10.35 CXCR4 CD4

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 early endosome GO:0005769 9.33 CXCR4 CORO1A CD4
2 actin filament GO:0005884 9.26 CORO1B CORO1A
3 lamellipodium GO:0030027 9.13 CORO1C CORO1B CORO1A
4 cell leading edge GO:0031252 8.8 CXCR4 CORO1B CORO1A

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

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 9.43 CORO1C CORO1B CORO1A
2 phagocytosis GO:0006909 9.4 CORO1C CORO1A
3 positive regulation of T cell proliferation GO:0042102 9.37 CORO1A CD4
4 positive regulation of T cell activation GO:0050870 9.32 CORO1A CD4
5 positive regulation of lamellipodium morphogenesis GO:2000394 9.16 CORO1C CORO1B
6 fusion of virus membrane with host plasma membrane GO:0019064 8.96 CXCR4 CD4
7 entry into host cell GO:0030260 8.62 CXCR4 CD4

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

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 9.26 CXCR4 CD4
2 coreceptor activity GO:0015026 9.16 CXCR4 CD4
3 actin filament binding GO:0051015 9.13 CORO1C CORO1B CORO1A
4 actin binding GO:0003779 8.92 CXCR4 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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