IGKCD
MCID: IMM100
MIFTS: 28

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 57 72 29 6 39
Kappa Light Chain Deficiency 57 70
Kappa Chain Deficiency 57 72
Kappa-Chain Deficiency 58 70
Igkcd 57 72
Recurrent Infections Associated with Rare Immunoglobulin Isotypes Deficiency 58
Igg Subclass Deficiency with Iga Subclass Deficiency 58
Selective Igg Subclass Deficiency 58
Isolated Igg Subclass Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
recurrent infections associated with rare immunoglobulin isotypes deficiency
Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
immunoglobulin kappa light chain deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 614102
MeSH 44 D007153
UMLS via Orphanet 71 C0162539 C3279824
Orphanet 58 ORPHA183675
MedGen 41 C3279824
SNOMED-CT via HPO 68 258211005 267060006 62315008
UMLS 70 C3248381 C3279824

Summaries for Immunoglobulin Kappa Light Chain Deficiency

UniProtKB/Swiss-Prot : 72 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 hyper-ige recurrent infection syndrome 1, autosomal dominant and systemic lupus erythematosus. An important gene associated with Immunoglobulin Kappa Light Chain Deficiency is IGKC (Immunoglobulin Kappa Constant). Related phenotypes are recurrent infections and diarrhea

More information 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 hyper-ige recurrent infection syndrome 1, autosomal dominant 10.1
2 systemic lupus erythematosus 10.1
3 immune deficiency disease 10.1
4 tetanus 10.1
5 diphtheria 10.1
6 hemopericardium 10.1
7 cardiac tamponade 10.1
8 pericardial effusion 10.1
9 common variable immunodeficiency 10.1
10 lupus erythematosus 10.1
11 immunoglobulin alpha deficiency 9.9
12 primary agammaglobulinemia 9.9

Graphical network of the top 20 diseases related to Immunoglobulin Kappa Light Chain Deficiency:



Diseases related to Immunoglobulin Kappa Light Chain Deficiency

Symptoms & Phenotypes for Immunoglobulin Kappa Light Chain Deficiency

Human phenotypes related to Immunoglobulin Kappa Light Chain Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 recurrent infections 31 occasional (7.5%) HP:0002719
2 diarrhea 31 occasional (7.5%) HP:0002014
3 abnormal immunoglobulin level 31 HP:0010701

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
recurrent infections (in 1 patient)

Immunology:
immunoglobulin kappa light chain deficiency

Abdomen Gastrointestinal:
diarrhea (in 1 patient)

Clinical features from OMIM®:

614102 (Updated 20-May-2021)

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 PMID Year
1
Molecular defects in a human immunoglobulin kappa chain deficiency. 61 57 6
3931219 1985
2
Kappa-chain deficiency. An immunoglobulin disorder. 57 6 61
815819 1976
3
Kappa-chain deficiency. 61 57
4117311 1972
4
Deficiency of kappa- or lambda-type immunoglobulins. 57
812574 1976
5
[Light-chain deficiency(kappa-chain deficiency, lambda-chain deficiency]. 61
11212838 2000
6
Sjögren-like syndrome in kappa chain deficiency. 61
3099801 1986

Variations for Immunoglobulin Kappa Light Chain Deficiency

ClinVar genetic disease variations for Immunoglobulin Kappa Light Chain Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IGKC IGKC, TRP148ARG Variation Pathogenic 29758 GRCh37:
GRCh38:
2 IGKC IGKC, CYS194GLY Variation Pathogenic 29759 GRCh37:
GRCh38:

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

72
# Symbol AA change Variation ID SNP ID
1 IGKC p.Trp41Arg VAR_066403

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 9.26 IGKC IGHG2
2 immunoglobulin complex GO:0019814 9.16 IGKC IGHG2
3 blood microparticle GO:0072562 8.96 IGKC IGHG2
4 immunoglobulin complex, circulating GO:0042571 8.62 IGKC IGHG2

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

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 IGKC IGHG2
2 immunoglobulin receptor binding GO:0034987 8.62 IGKC IGHG2

Sources for Immunoglobulin Kappa Light Chain Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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