Immunodeficiency, Common Variable, 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CVID7 MCID: IMM058 MIFTS: 16	Immunodeficiency, Common Variable, 7 (CVID7) Categories: Genetic diseases, Immune diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Immunodeficiency, Common Variable, 7

MalaCards integrated aliases for Immunodeficiency, Common Variable, 7:

Name: Immunodeficiency, Common Variable, 7 ⁵⁸ ⁷⁶ ¹³ ⁷⁴

Common Variable Immunodeficiency 7 ³⁰ ⁶

Cvid7 ⁵⁸ ⁷⁶

Immunodeficiency, Variable, Common, Type 7 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
one patient has been reported (last curated july 2012)

HPO:

³³

immunodeficiency, common variable, 7:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 614699

MeSH ⁴⁵ D017074

MedGen ⁴³ C3542922 CN130275

SNOMED-CT via HPO ⁷⁰ 234532001 236071009 258211005 more

UMLS ⁷⁴ C3542922

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Summaries for Immunodeficiency, Common Variable, 7

UniProtKB/Swiss-Prot : ⁷⁶ Immunodeficiency, common variable, 7: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.

MalaCards based summary : Immunodeficiency, Common Variable, 7, is also known as common variable immunodeficiency 7. An important gene associated with Immunodeficiency, Common Variable, 7 is CR2 (Complement C3d Receptor 2). Affiliated tissues include b cells, and related phenotypes are recurrent respiratory infections and immunodeficiency

Description from OMIM: 614699

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Related Diseases for Immunodeficiency, Common Variable, 7

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Symptoms & Phenotypes for Immunodeficiency, Common Variable, 7

Human phenotypes related to Immunodeficiency, Common Variable, 7:

³³

#	Description	HPO Source Accession
1	recurrent respiratory infections ³³	HP:0002205
2	immunodeficiency ³³	HP:0002721
3	chronic diarrhea ³³	HP:0002028
4	decreased circulating iga level ³³	HP:0002720

Symptoms via clinical synopsis from OMIM:

⁵⁸

Immunology:
recurrent infections
hypogammaglobulinemia

Laboratory Abnormalities:
decreased iga
deceased igg
low-normal igm
decreased switched memory b cells
proper antibody response to protein vaccinations

Respiratory:
respiratory infections, recurrent

Abdomen Gastrointestinal:
diarrhea, recurrent

Clinical features from OMIM:

614699

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Drugs & Therapeutics for Immunodeficiency, Common Variable, 7

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 7

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Genetic Tests for Immunodeficiency, Common Variable, 7

Genetic tests related to Immunodeficiency, Common Variable, 7:

#	Genetic test	Affiliating Genes
1	Common Variable Immunodeficiency 7 ³⁰	CR2

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Anatomical Context for Immunodeficiency, Common Variable, 7

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 7:

⁴²

B Cells

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Publications for Immunodeficiency, Common Variable, 7

Articles related to Immunodeficiency, Common Variable, 7:

#	Title	Authors	Year
1	Genetic CD21 deficiency is associated with hypogammaglobulinemia. ( 22035880 )	Thiel J...Schlesier M	2012

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Genes for Immunodeficiency, Common Variable, 7

Genes related to Immunodeficiency, Common Variable, 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CR2	Complement C3d Receptor 2	Protein Coding	1018.05	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders (show sections)	22035880

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Variations for Immunodeficiency, Common Variable, 7

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 7:

⁶ (show top 50) (show all 106)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CR2	NM_001006658.2(CR2): c.2297G> A (p.Trp766Ter)	single nucleotide variant	Pathogenic	rs398122863	GRCh37	Chromosome 1, 207647642: 207647642
2	CR2	NM_001006658.2(CR2): c.2297G> A (p.Trp766Ter)	single nucleotide variant	Pathogenic	rs398122863	GRCh38	Chromosome 1, 207474297: 207474297
3	CR2	NM_001006658.2(CR2): c.1225+1G> C	single nucleotide variant	Pathogenic	rs398122864	GRCh37	Chromosome 1, 207643448: 207643448
4	CR2	NM_001006658.2(CR2): c.1225+1G> C	single nucleotide variant	Pathogenic	rs398122864	GRCh38	Chromosome 1, 207470103: 207470103
5	CR2	NM_001006658.2(CR2): c.524C> T (p.Pro175Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs75282758	GRCh37	Chromosome 1, 207641950: 207641950
6	CR2	NM_001006658.2(CR2): c.524C> T (p.Pro175Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs75282758	GRCh38	Chromosome 1, 207468605: 207468605
7	CR2	NM_001006658.2(CR2): c.2611G> T (p.Val871Leu)	single nucleotide variant	Likely benign	rs144572703	GRCh37	Chromosome 1, 207648456: 207648456
8	CR2	NM_001006658.2(CR2): c.2611G> T (p.Val871Leu)	single nucleotide variant	Likely benign	rs144572703	GRCh38	Chromosome 1, 207475111: 207475111
9	CR2	NM_001006658.2(CR2): c.2649T> C (p.Gly883=)	single nucleotide variant	Benign	rs1143665	GRCh37	Chromosome 1, 207648494: 207648494
10	CR2	NM_001006658.2(CR2): c.2649T> C (p.Gly883=)	single nucleotide variant	Benign	rs1143665	GRCh38	Chromosome 1, 207475149: 207475149
11	CR2	NM_001006658.2(CR2): c.624C> G (p.Pro208=)	single nucleotide variant	Benign	rs61759494	GRCh37	Chromosome 1, 207642050: 207642050
12	CR2	NM_001006658.2(CR2): c.624C> G (p.Pro208=)	single nucleotide variant	Benign	rs61759494	GRCh38	Chromosome 1, 207468705: 207468705
13	CR2	NM_001006658.2(CR2): c.2844G> A (p.Glu948=)	single nucleotide variant	Benign/Likely benign	rs61754518	GRCh37	Chromosome 1, 207649706: 207649706
14	CR2	NM_001006658.2(CR2): c.2844G> A (p.Glu948=)	single nucleotide variant	Benign/Likely benign	rs61754518	GRCh38	Chromosome 1, 207476361: 207476361
15	CR2	NM_001006658.2(CR2): c.1676G> A (p.Gly559Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143614333	GRCh37	Chromosome 1, 207646222: 207646222
16	CR2	NM_001006658.2(CR2): c.1676G> A (p.Gly559Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143614333	GRCh38	Chromosome 1, 207472877: 207472877
17	CR2	NM_001006658.2(CR2): c.624C> A (p.Pro208=)	single nucleotide variant	Benign	rs61759494	GRCh37	Chromosome 1, 207642050: 207642050
18	CR2	NM_001006658.2(CR2): c.624C> A (p.Pro208=)	single nucleotide variant	Benign	rs61759494	GRCh38	Chromosome 1, 207468705: 207468705
19	CR2	NM_001006658.2(CR2): c.1617C> T (p.Thr539=)	single nucleotide variant	Benign	rs34349246	GRCh37	Chromosome 1, 207646163: 207646163
20	CR2	NM_001006658.2(CR2): c.1617C> T (p.Thr539=)	single nucleotide variant	Benign	rs34349246	GRCh38	Chromosome 1, 207472818: 207472818
21	CR2	NM_001006658.2(CR2): c.2298G> A (p.Trp766Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs151093663	GRCh37	Chromosome 1, 207647643: 207647643
22	CR2	NM_001006658.2(CR2): c.2298G> A (p.Trp766Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs151093663	GRCh38	Chromosome 1, 207474298: 207474298
23	CR2	NM_001006658.2(CR2): c.2352T> C (p.Ile784=)	single nucleotide variant	Benign	rs142319454	GRCh37	Chromosome 1, 207648197: 207648197
24	CR2	NM_001006658.2(CR2): c.2352T> C (p.Ile784=)	single nucleotide variant	Benign	rs142319454	GRCh38	Chromosome 1, 207474852: 207474852
25	CR2	NM_001006658.2(CR2): c.2445A> G (p.Gly815=)	single nucleotide variant	Benign	rs141282665	GRCh37	Chromosome 1, 207648290: 207648290
26	CR2	NM_001006658.2(CR2): c.2445A> G (p.Gly815=)	single nucleotide variant	Benign	rs141282665	GRCh38	Chromosome 1, 207474945: 207474945
27	CR2	NM_001006658.2(CR2): c.3189-8_3189-7delCT	deletion	Benign	rs112859639	GRCh37	Chromosome 1, 207658801: 207658802
28	CR2	NM_001006658.2(CR2): c.3189-8_3189-7delCT	deletion	Benign	rs112859639	GRCh38	Chromosome 1, 207485456: 207485457
29	CR2	NM_001006658.2(CR2): c.3251C> A (p.Ser1084Tyr)	single nucleotide variant	Uncertain significance	rs142273168	GRCh37	Chromosome 1, 207658871: 207658871
30	CR2	NM_001006658.2(CR2): c.3251C> A (p.Ser1084Tyr)	single nucleotide variant	Uncertain significance	rs142273168	GRCh38	Chromosome 1, 207485526: 207485526
31	CR2	NM_001006658.2(CR2): c.1458T> C (p.Phe486=)	single nucleotide variant	Likely benign	rs147378770	GRCh37	Chromosome 1, 207644397: 207644397
32	CR2	NM_001006658.2(CR2): c.1458T> C (p.Phe486=)	single nucleotide variant	Likely benign	rs147378770	GRCh38	Chromosome 1, 207471052: 207471052
33	CR2	NM_001006658.2(CR2): c.1390C> T (p.Pro464Ser)	single nucleotide variant	Uncertain significance	rs41313740	GRCh37	Chromosome 1, 207644249: 207644249
34	CR2	NM_001006658.2(CR2): c.1390C> T (p.Pro464Ser)	single nucleotide variant	Uncertain significance	rs41313740	GRCh38	Chromosome 1, 207470904: 207470904
35	CR2	NM_001006658.2(CR2): c.52G> A (p.Val18Ile)	single nucleotide variant	Uncertain significance	rs892246082	GRCh37	Chromosome 1, 207627815: 207627815
36	CR2	NM_001006658.2(CR2): c.52G> A (p.Val18Ile)	single nucleotide variant	Uncertain significance	rs892246082	GRCh38	Chromosome 1, 207454470: 207454470
37	CR2	NM_001006658.2(CR2): c.389T> C (p.Val130Ala)	single nucleotide variant	Uncertain significance	rs543886209	GRCh38	Chromosome 1, 207466856: 207466856
38	CR2	NM_001006658.2(CR2): c.389T> C (p.Val130Ala)	single nucleotide variant	Uncertain significance	rs543886209	GRCh37	Chromosome 1, 207640201: 207640201
39	CR2	NM_001006658.2(CR2): c.2006A> G (p.His669Arg)	single nucleotide variant	Likely benign	rs139230275	GRCh37	Chromosome 1, 207646917: 207646917
40	CR2	NM_001006658.2(CR2): c.605A> C (p.Lys202Thr)	single nucleotide variant	Uncertain significance	rs893377104	GRCh38	Chromosome 1, 207468686: 207468686
41	CR2	NM_001006658.2(CR2): c.605A> C (p.Lys202Thr)	single nucleotide variant	Uncertain significance	rs893377104	GRCh37	Chromosome 1, 207642031: 207642031
42	CR2	NM_001006658.2(CR2): c.1597A> T (p.Ile533Phe)	single nucleotide variant	Uncertain significance	rs762951469	GRCh38	Chromosome 1, 207472798: 207472798
43	CR2	NM_001006658.2(CR2): c.1597A> T (p.Ile533Phe)	single nucleotide variant	Uncertain significance	rs762951469	GRCh37	Chromosome 1, 207646143: 207646143
44	CR2	NM_001006658.2(CR2): c.1622G> T (p.Ser541Ile)	single nucleotide variant	Benign	rs144075435	GRCh38	Chromosome 1, 207472823: 207472823
45	CR2	NM_001006658.2(CR2): c.1622G> T (p.Ser541Ile)	single nucleotide variant	Benign	rs144075435	GRCh37	Chromosome 1, 207646168: 207646168
46	CR2	NM_001006658.2(CR2): c.1931G> A (p.Cys644Tyr)	single nucleotide variant	Uncertain significance	rs149972318	GRCh38	Chromosome 1, 207473132: 207473132
47	CR2	NM_001006658.2(CR2): c.1931G> A (p.Cys644Tyr)	single nucleotide variant	Uncertain significance	rs149972318	GRCh37	Chromosome 1, 207646477: 207646477
48	CR2	NM_001006658.2(CR2): c.2006A> G (p.His669Arg)	single nucleotide variant	Likely benign	rs139230275	GRCh38	Chromosome 1, 207473572: 207473572
49	CR2	NM_001006658.2(CR2): c.2738C> T (p.Pro913Leu)	single nucleotide variant	Uncertain significance	rs772503117	GRCh38	Chromosome 1, 207476255: 207476255
50	CR2	NM_001006658.2(CR2): c.2738C> T (p.Pro913Leu)	single nucleotide variant	Uncertain significance	rs772503117	GRCh37	Chromosome 1, 207649600: 207649600

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Expression for Immunodeficiency, Common Variable, 7

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 7.

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Pathways for Immunodeficiency, Common Variable, 7

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GO Terms for Immunodeficiency, Common Variable, 7

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Sources for Immunodeficiency, Common Variable, 7

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Immunodeficiency, Common Variable, 7 (CVID7)

Aliases & Classifications for Immunodeficiency, Common Variable, 7

MalaCards integrated aliases for Immunodeficiency, Common Variable, 7:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency, Common Variable, 7

Related Diseases for Immunodeficiency, Common Variable, 7

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 7

Human phenotypes related to Immunodeficiency, Common Variable, 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Immunodeficiency, Common Variable, 7

Genetic Tests for Immunodeficiency, Common Variable, 7

Genetic tests related to Immunodeficiency, Common Variable, 7:

Anatomical Context for Immunodeficiency, Common Variable, 7

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 7:

Publications for Immunodeficiency, Common Variable, 7

Articles related to Immunodeficiency, Common Variable, 7:

Genes for Immunodeficiency, Common Variable, 7

Genes related to Immunodeficiency, Common Variable, 7 (1 elite genes):

Variations for Immunodeficiency, Common Variable, 7

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 7:

Expression for Immunodeficiency, Common Variable, 7

Pathways for Immunodeficiency, Common Variable, 7

GO Terms for Immunodeficiency, Common Variable, 7

Sources for Immunodeficiency, Common Variable, 7