IGKCD
MCID: IMM100
MIFTS: 25

Immunoglobulin Kappa Light Chain Deficiency (IGKCD)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunoglobulin Kappa Light Chain Deficiency

MalaCards integrated aliases for Immunoglobulin Kappa Light Chain Deficiency:

Name: Immunoglobulin Kappa Light Chain Deficiency 58 76 30 6 41
Kappa Light Chain Deficiency 58 74
Kappa Chain Deficiency 58 76
Kappa-Chain Deficiency 60 74
Igkcd 58 76
Recurrent Infections Associated with Rare Immunoglobulin Isotypes Deficiency 60
Igg Subclass Deficiency with Iga Subclass Deficiency 60
Selective Igg Subclass Deficiency 60
Isolated Igg Subclass Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
recurrent infections associated with rare immunoglobulin isotypes deficiency
Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
very few patients reported
one patient studied at molecular level (as of july 2011)


HPO:

33
immunoglobulin kappa light chain deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 614102
MeSH 45 D007153
UMLS via Orphanet 75 C0162539 C3279824
Orphanet 60 ORPHA183675
MedGen 43 C3279824
SNOMED-CT via HPO 70 258211005 267060006 62315008

Summaries for Immunoglobulin Kappa Light Chain Deficiency

UniProtKB/Swiss-Prot : 76 Immunoglobulin kappa light chain deficiency: A disease characterized by the complete absence of immunoglobulin kappa chains.

MalaCards based summary : Immunoglobulin Kappa Light Chain Deficiency, also known as kappa light chain deficiency, is related to systemic lupus erythematosus and common variable immunodeficiency. An important gene associated with Immunoglobulin Kappa Light Chain Deficiency is IGKC (Immunoglobulin Kappa Constant). Related phenotypes are recurrent infections and diarrhea

Description from OMIM: 614102

Related Diseases for Immunoglobulin Kappa Light Chain Deficiency

Diseases related to Immunoglobulin Kappa Light Chain Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 systemic lupus erythematosus 10.0
2 common variable immunodeficiency 10.0
3 cardiac tamponade 10.0
4 lupus erythematosus 10.0

Symptoms & Phenotypes for Immunoglobulin Kappa Light Chain Deficiency

Human phenotypes related to Immunoglobulin Kappa Light Chain Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 recurrent infections 33 occasional (7.5%) HP:0002719
2 diarrhea 33 occasional (7.5%) HP:0002014
3 abnormal immunoglobulin level 33 HP:0010701

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
recurrent infections (in 1 patient)

Immunology:
immunoglobulin kappa light chain deficiency

Abdomen Gastrointestinal:
diarrhea (in 1 patient)

Clinical features from OMIM:

614102

Drugs & Therapeutics for Immunoglobulin Kappa Light Chain Deficiency

Search Clinical Trials , NIH Clinical Center for Immunoglobulin Kappa Light Chain Deficiency

Genetic Tests for Immunoglobulin Kappa Light Chain Deficiency

Genetic tests related to Immunoglobulin Kappa Light Chain Deficiency:

# Genetic test Affiliating Genes
1 Immunoglobulin Kappa Light Chain Deficiency 30 IGKC

Anatomical Context for Immunoglobulin Kappa Light Chain Deficiency

Publications for Immunoglobulin Kappa Light Chain Deficiency

Articles related to Immunoglobulin Kappa Light Chain Deficiency:

# Title Authors Year
1
Molecular defects in a human immunoglobulin kappa chain deficiency. ( 3931219 )
1985
2
Kappa-chain deficiency. An immunoglobulin disorder. ( 815819 )
1976

Variations for Immunoglobulin Kappa Light Chain Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Immunoglobulin Kappa Light Chain Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 IGKC p.Trp41Arg VAR_066403

ClinVar genetic disease variations for Immunoglobulin Kappa Light Chain Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IGKC IGKC, TRP148ARG undetermined variant Pathogenic
2 IGKC IGKC, CYS194GLY undetermined variant Pathogenic

Expression for Immunoglobulin Kappa Light Chain Deficiency

Search GEO for disease gene expression data for Immunoglobulin Kappa Light Chain Deficiency.

Pathways for Immunoglobulin Kappa Light Chain Deficiency

GO Terms for Immunoglobulin Kappa Light Chain Deficiency

Cellular components related to Immunoglobulin Kappa Light Chain Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.16 IGHG2 IGKC
2 blood microparticle GO:0072562 8.96 IGHG2 IGKC
3 immunoglobulin complex, circulating GO:0042571 8.62 IGHG2 IGKC

Biological processes related to Immunoglobulin Kappa Light Chain Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.48 IGHG2 IGKC
2 defense response to bacterium GO:0042742 9.46 IGHG2 IGKC
3 complement activation, classical pathway GO:0006958 9.43 IGHG2 IGKC
4 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.4 IGHG2 IGKC
5 B cell receptor signaling pathway GO:0050853 9.37 IGHG2 IGKC
6 phagocytosis, engulfment GO:0006911 9.32 IGHG2 IGKC
7 regulation of complement activation GO:0030449 9.26 IGHG2 IGKC
8 phagocytosis, recognition GO:0006910 9.16 IGHG2 IGKC
9 positive regulation of B cell activation GO:0050871 8.96 IGHG2 IGKC
10 complement activation GO:0006956 8.62 IGHG2 IGKC

Molecular functions related to Immunoglobulin Kappa Light Chain Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antigen binding GO:0003823 8.96 IGHG2 IGKC
2 immunoglobulin receptor binding GO:0034987 8.62 IGHG2 IGKC

Sources for Immunoglobulin Kappa Light Chain Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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