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

CVID7 MCID: IMM058 MIFTS: 21	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 ⁵⁷ ⁷² ¹³ ⁷⁰

Common Variable Immunodeficiency 7 ²⁹ ⁶

Cvid7 ⁵⁷ ⁷²

Immunodeficiency, Variable, Common, Type 7 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

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® ⁵⁷ 614699

OMIM Phenotypic Series ⁵⁷ PS607594

MeSH ⁴⁴ D017074

MedGen ⁴¹ C3542922 CN130275

SNOMED-CT via HPO ⁶⁸ 234532001 236071009 258211005 more

UMLS ⁷⁰ C3542922

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Summaries for Immunodeficiency, Common Variable, 7

UniProtKB/Swiss-Prot : ⁷² 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

More information from OMIM: 614699 PS607594

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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:

³¹

#	Description	HPO Source Accession
1	recurrent respiratory infections ³¹	HP:0002205
2	immunodeficiency ³¹	HP:0002721
3	chronic diarrhea ³¹	HP:0002028
4	decreased circulating iga level ³¹	HP:0002720

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

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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 ²⁹	CR2

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Anatomical Context for Immunodeficiency, Common Variable, 7

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

⁴⁰

B Cells

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Publications for Immunodeficiency, Common Variable, 7

Articles related to Immunodeficiency, Common Variable, 7:

#	Title	Authors	PMID	Year
1	Genetic CD21 deficiency is associated with hypogammaglobulinemia. ⁶ ⁵⁷	Thiel J...Schlesier M	22035880	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	PubMed IDs
1	CR2	Complement C3d Receptor 2	Protein Coding	1007.59	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders (show sections)

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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 242)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CR2	NM_001006658.2(CR2):c.462T>A (p.Cys154Ter)	SNV	Pathogenic	638326	rs1572952530	GRCh37: 1:207641888-207641888 GRCh38: 1:207468543-207468543
2	CR2	NM_001877.5(CR2):c.2120G>A (p.Trp707Ter)	SNV	Pathogenic	35453	rs398122863	GRCh37: 1:207647642-207647642 GRCh38: 1:207474297-207474297
3	CR2	NM_001006658.2(CR2):c.3238C>T (p.Arg1080Ter)	SNV	Conflicting interpretations of pathogenicity	573311	rs185689791	GRCh37: 1:207658858-207658858 GRCh38: 1:207485513-207485513
4	CR2	NM_001006658.3(CR2):c.2903-3C>A	SNV	Conflicting interpretations of pathogenicity	784591	rs372214909	GRCh37: 1:207651227-207651227 GRCh38: 1:207477882-207477882
5	CR2	NM_001006658.3(CR2):c.658C>T (p.Arg220Ter)	SNV	Conflicting interpretations of pathogenicity	932909	rs141472681	GRCh37: 1:207642168-207642168 GRCh38: 1:207468823-207468823
6	CR2	NM_001006658.2(CR2):c.1078C>T (p.Arg360Ter)	SNV	Conflicting interpretations of pathogenicity	650445	rs772481080	GRCh37: 1:207643300-207643300 GRCh38: 1:207469955-207469955
7	CR2	NM_001006658.2(CR2):c.1676G>A (p.Gly559Glu)	SNV	Conflicting interpretations of pathogenicity	449008	rs143614333	GRCh37: 1:207646222-207646222 GRCh38: 1:207472877-207472877
8	CR2	NM_001006658.3(CR2):c.2516T>C (p.Leu839Ser)	SNV	Uncertain significance	860488		GRCh37: 1:207648361-207648361 GRCh38: 1:207475016-207475016
9	CR2	NM_001877.5(CR2):c.1210C>G (p.Pro404Ala)	SNV	Uncertain significance	578201	rs148388565	GRCh37: 1:207643432-207643432 GRCh38: 1:207470087-207470087
10	CR2	NM_001006658.3(CR2):c.2518C>G (p.Arg840Gly)	SNV	Uncertain significance	957001		GRCh37: 1:207648363-207648363 GRCh38: 1:207475018-207475018
11	CR2	NM_001006658.3(CR2):c.214G>A (p.Asp72Asn)	SNV	Uncertain significance	992567		GRCh37: 1:207640026-207640026 GRCh38: 1:207466681-207466681
12	CR2	NM_001877.5(CR2):c.599C>T (p.Ser200Leu)	SNV	Uncertain significance	658089	rs142206860	GRCh37: 1:207642025-207642025 GRCh38: 1:207468680-207468680
13	CR2	NM_001006658.3(CR2):c.2483A>G (p.His828Arg)	SNV	Uncertain significance	835171		GRCh37: 1:207648328-207648328 GRCh38: 1:207474983-207474983
14	CR2	NM_001006658.3(CR2):c.2111G>A (p.Cys704Tyr)	SNV	Uncertain significance	842844		GRCh37: 1:207647022-207647022 GRCh38: 1:207473677-207473677
15	CR2	NM_001006658.3(CR2):c.419C>T (p.Pro140Leu)	SNV	Uncertain significance	807908	rs563764676	GRCh37: 1:207640231-207640231 GRCh38: 1:207466886-207466886
16	CR2	NM_001006658.3(CR2):c.1064A>G (p.Gln355Arg)	SNV	Uncertain significance	849010		GRCh37: 1:207643286-207643286 GRCh38: 1:207469941-207469941
17	CR2	NM_001006658.3(CR2):c.445+6T>C	SNV	Uncertain significance	855596		GRCh37: 1:207640263-207640263 GRCh38: 1:207466918-207466918
18	CR2	NM_001006658.3(CR2):c.740G>A (p.Arg247Gln)	SNV	Uncertain significance	862058		GRCh37: 1:207642500-207642500 GRCh38: 1:207469155-207469155
19	CR2	NM_001006658.3(CR2):c.863T>C (p.Ile288Thr)	SNV	Uncertain significance	953439		GRCh37: 1:207643085-207643085 GRCh38: 1:207469740-207469740
20	CR2	NM_001006658.3(CR2):c.3097G>C (p.Ala1033Pro)	SNV	Uncertain significance	955777		GRCh37: 1:207652610-207652610 GRCh38: 1:207479265-207479265
21	CR2	NM_001006658.3(CR2):c.3203A>C (p.Asp1068Ala)	SNV	Uncertain significance	961095		GRCh37: 1:207658823-207658823 GRCh38: 1:207485478-207485478
22	CR2	NM_001006658.3(CR2):c.2168A>G (p.His723Arg)	SNV	Uncertain significance	961579		GRCh37: 1:207647158-207647158 GRCh38: 1:207473813-207473813
23	CR2	NM_001006658.3(CR2):c.1511G>A (p.Ser504Asn)	SNV	Uncertain significance	962849		GRCh37: 1:207644785-207644785 GRCh38: 1:207471440-207471440
24	CR2	NM_001006658.3(CR2):c.74C>G (p.Ser25Cys)	SNV	Uncertain significance	1051041		GRCh37: 1:207639886-207639886 GRCh38: 1:207466541-207466541
25	CR2	NM_001006658.3(CR2):c.2803A>G (p.Ile935Val)	SNV	Uncertain significance	1051376		GRCh37: 1:207649665-207649665 GRCh38: 1:207476320-207476320
26	CR2	NM_001006658.3(CR2):c.1129T>C (p.Phe377Leu)	SNV	Uncertain significance	1053354		GRCh37: 1:207643351-207643351 GRCh38: 1:207470006-207470006
27	CR2	NM_001006658.3(CR2):c.3223T>A (p.Phe1075Ile)	SNV	Uncertain significance	1053643		GRCh37: 1:207658843-207658843 GRCh38: 1:207485498-207485498
28	CR2	NM_001006658.3(CR2):c.2062T>C (p.Tyr688His)	SNV	Uncertain significance	1054486		GRCh37: 1:207646973-207646973 GRCh38: 1:207473628-207473628
29	CR2	NM_001006658.3(CR2):c.3111T>G (p.Cys1037Trp)	SNV	Uncertain significance	1056203		GRCh37: 1:207652624-207652624 GRCh38: 1:207479279-207479279
30	CR2	NM_001006658.3(CR2):c.1837A>G (p.Ile613Val)	SNV	Uncertain significance	1060493		GRCh37: 1:207646383-207646383 GRCh38: 1:207473038-207473038
31	CR2	NM_001006658.3(CR2):c.2204C>G (p.Ser735Ter)	SNV	Uncertain significance	1061097		GRCh37: 1:207647194-207647194 GRCh38: 1:207473849-207473849
32	CR2	NM_001006658.3(CR2):c.556G>A (p.Gly186Ser)	SNV	Uncertain significance	1063953		GRCh37: 1:207641982-207641982 GRCh38: 1:207468637-207468637
33	CR2	NM_001006658.3(CR2):c.1402+6A>G	SNV	Uncertain significance	967153		GRCh37: 1:207644267-207644267 GRCh38: 1:207470922-207470922
34	CR2	NM_001006658.3(CR2):c.982G>C (p.Asp328His)	SNV	Uncertain significance	955797		GRCh37: 1:207643204-207643204 GRCh38: 1:207469859-207469859
35	CR2	NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln)	SNV	Uncertain significance	812044	rs139617666	GRCh37: 1:207643301-207643301 GRCh38: 1:207469956-207469956
36	CR2	NM_001877.5(CR2):c.665C>T (p.Pro222Leu)	SNV	Uncertain significance	663094	rs371733599	GRCh37: 1:207642175-207642175 GRCh38: 1:207468830-207468830
37	CR2	NM_001006658.3(CR2):c.2045C>G (p.Ser682Cys)	SNV	Uncertain significance	1047128		GRCh37: 1:207646956-207646956 GRCh38: 1:207473611-207473611
38	CR2	NM_001006658.3(CR2):c.2497G>A (p.Gly833Arg)	SNV	Uncertain significance	1029997		GRCh37: 1:207648342-207648342 GRCh38: 1:207474997-207474997
39	CR2	NM_001006658.3(CR2):c.2942A>T (p.Gln981Leu)	SNV	Uncertain significance	1029998		GRCh37: 1:207651269-207651269 GRCh38: 1:207477924-207477924
40	CR2	NM_001006658.3(CR2):c.446-10G>T	SNV	Uncertain significance	1032520		GRCh37: 1:207641862-207641862 GRCh38: 1:207468517-207468517
41	CR2	NM_001006658.3(CR2):c.752C>T (p.Pro251Leu)	SNV	Uncertain significance	1033184		GRCh37: 1:207642512-207642512 GRCh38: 1:207469167-207469167
42	CR2	NM_001006658.2(CR2):c.818-4C>T	SNV	Uncertain significance	636387	rs370106455	GRCh37: 1:207643036-207643036 GRCh38: 1:207469691-207469691
43	CR2	NM_001006658.3(CR2):c.3258T>G (p.Asp1086Glu)	SNV	Uncertain significance	1035299		GRCh37: 1:207658878-207658878 GRCh38: 1:207485533-207485533
44	CR2	NM_001006658.3(CR2):c.2011C>T (p.Arg671Cys)	SNV	Uncertain significance	1037260		GRCh37: 1:207646922-207646922 GRCh38: 1:207473577-207473577
45	CR2	NM_001006658.3(CR2):c.1268A>T (p.Asp423Val)	SNV	Uncertain significance	1038398		GRCh37: 1:207644127-207644127 GRCh38: 1:207470782-207470782
46	CR2	NM_001006658.3(CR2):c.1798G>A (p.Val600Ile)	SNV	Uncertain significance	1039150		GRCh37: 1:207646344-207646344 GRCh38: 1:207472999-207472999
47	CR2	NM_001006658.3(CR2):c.3244_3245del (p.Val1082fs)	Deletion	Uncertain significance	1039219		GRCh37: 1:207658864-207658865 GRCh38: 1:207485519-207485520
48	CR2	NM_001006658.3(CR2):c.2608A>G (p.Ile870Val)	SNV	Uncertain significance	1040869		GRCh37: 1:207648453-207648453 GRCh38: 1:207475108-207475108
49	CR2	NM_001006658.3(CR2):c.1985A>G (p.Gln662Arg)	SNV	Uncertain significance	1041331		GRCh37: 1:207646896-207646896 GRCh38: 1:207473551-207473551
50	CR2	NM_001006658.3(CR2):c.694C>T (p.Leu232Phe)	SNV	Uncertain significance	1042017		GRCh37: 1:207642204-207642204 GRCh38: 1:207468859-207468859

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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

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³ CDC

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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