MCID: IMM100
MIFTS: 24

Immunoglobulin Kappa Light Chain Deficiency

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

Aliases & Classifications for Immunoglobulin Kappa Light Chain Deficiency

MalaCards integrated aliases for Immunoglobulin Kappa Light Chain Deficiency:

Name: Immunoglobulin Kappa Light Chain Deficiency 57 75 29 6 40
Kappa Light Chain Deficiency 57 73
Kappa Chain Deficiency 57 75
Kappa-Chain Deficiency 59 73
Igkcd 57 75
Recurrent Infections Associated with Rare Immunoglobulin Isotypes Deficiency 59
Igg Subclass Deficiency with Iga Subclass Deficiency 59
Selective Igg Subclass Deficiency 59
Isolated Igg Subclass Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
recurrent infections associated with rare immunoglobulin isotypes deficiency
Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunoglobulin kappa light chain deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 614102
Orphanet 59 ORPHA183675
UMLS via Orphanet 74 C3279824 C0162539
MedGen 42 C3279824
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005 267060006 62315008

Summaries for Immunoglobulin Kappa Light Chain Deficiency

UniProtKB/Swiss-Prot : 75 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 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 common variable immunodeficiency 9.8

Symptoms & Phenotypes for Immunoglobulin Kappa Light Chain Deficiency

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent infections (in 1 patient)

Immunology:
immunoglobulin kappa light chain deficiency

Abdomen Gastrointestinal:
diarrhea (in 1 patient)


Clinical features from OMIM:

614102

Human phenotypes related to Immunoglobulin Kappa Light Chain Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 recurrent infections 32 occasional (7.5%) HP:0002719
2 diarrhea 32 occasional (7.5%) HP:0002014
3 abnormal immunoglobulin level 32 HP:0010701

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 29 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
Study of self reactive antibodies in kappa-light chain deficient mice. ( 7578867 )
1995

Variations for Immunoglobulin Kappa Light Chain Deficiency

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

75
# 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.49 IGHG2 IGKC
2 innate immune response GO:0045087 9.48 IGHG2 IGKC
3 defense response to bacterium GO:0042742 9.46 IGHG2 IGKC
4 complement activation, classical pathway GO:0006958 9.43 IGHG2 IGKC
5 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.4 IGHG2 IGKC
6 regulation of complement activation GO:0030449 9.37 IGHG2 IGKC
7 B cell receptor signaling pathway GO:0050853 9.32 IGHG2 IGKC
8 complement activation GO:0006956 9.26 IGHG2 IGKC
9 phagocytosis, engulfment GO:0006911 9.16 IGHG2 IGKC
10 phagocytosis, recognition GO:0006910 8.96 IGHG2 IGKC
11 positive regulation of B cell activation GO:0050871 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 serine-type endopeptidase activity GO:0004252 9.16 IGHG2 IGKC
2 antigen binding GO:0003823 8.96 IGHG2 IGKC
3 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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