MCID: ATM083
MIFTS: 36

Autoimmune Lymphoproliferative Syndrome, Type Iii

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

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Iii

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome, Type Iii:

Name: Autoimmune Lymphoproliferative Syndrome, Type Iii 53 71 28 69
Alps3 53 12 71
Autoimmune Lymphoproliferative Syndrome Type 3 12 14
Cvid9 12 71
Immunodeficiency, Common Variable, 9, Formerly; Cvid9, Formerly 53
Autoimmune Lymphoproliferative Syndrome Type Iii 12
Immunodeficiency, Common Variable, 9, Formerly 53
Autoimmune Lymphoproliferative Syndrome 3 71
Immunodeficiency, Common Variable, 9 71
Common Variable Immunodeficiency 9 12
Cvid9, Formerly 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or childhood
variable manifestations


HPO:

31
autoimmune lymphoproliferative syndrome, type iii:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iii

OMIM : 53 Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859. (615559)

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, Type Iii, also known as alps3, is related to lymphoproliferative syndrome and autoimmune lymphoproliferative syndrome, and has symptoms including arthralgia, splenomegaly and hepatomegaly. An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Iii is PRKCD (Protein Kinase C Delta), and among its related pathways/superpathways are PEDF Induced Signaling and PAK Pathway. Affiliated tissues include b cells and t cells.

UniProtKB/Swiss-Prot : 71 Autoimmune lymphoproliferative syndrome 3: 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. CVID9 patients have B-cell deficiency and severe autoimmunity.

Disease Ontology : 12 An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the PRKCD gene on chromosome 3p21.

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Iii

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type Iii

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
arthralgia
polychondritis, autoimmune

Abdomen Liver:
hepatomegaly

Hematology:
autoimmune thrombocytopenia
antiphospholipid syndrome hemolytic anemia

Skin Nails Hair Skin:
erythematous rash (in some patients)

Abdomen Spleen:
splenomegaly

Immunology:
recurrent infections
lymphadenopathy
autoimmune disorders
decreased igg
b-cell lymphocytosis
more
Genitourinary Kidneys:
nephrotic syndrome (in some patients)
membranous glomerulonephritis (in some patients)
deposition of igg and complement seen on renal biopsy (in some patients)


Clinical features from OMIM:

615559

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 arthralgia 31 HP:0002829
2 splenomegaly 31 HP:0001744
3 hepatomegaly 31 HP:0002240
4 nephrotic syndrome 31 HP:0000100
5 recurrent infections 31 HP:0002719
6 lymphadenopathy 31 HP:0002716
7 autoimmune thrombocytopenia 31 HP:0001973
8 membranous nephropathy 31 HP:0012578

UMLS symptoms related to Autoimmune Lymphoproliferative Syndrome, Type Iii:


arthralgia

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Iii

Search Clinical Trials , NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome, Type Iii

Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type Iii

Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type Iii 28 PRKCD

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iii

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

38
B Cells, T Cells

Publications for Autoimmune Lymphoproliferative Syndrome, Type Iii

Articles related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

# Title Authors Year
1
Autoimmune lymphoproliferative syndrome type III: an indefinite disorder. ( 11342357 )
2001
2
Autoimmune lymphoproliferative syndrome type III, an indefinite disorder. ( 11378568 )
2001

Variations for Autoimmune Lymphoproliferative Syndrome, Type Iii

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type Iii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKCD NM_006254.3(PRKCD): c.1352+1G> A single nucleotide variant Pathogenic rs398122958 GRCh37 Chromosome 3, 53220712: 53220712
2 PRKCD NM_006254.3(PRKCD): c.1528G> A (p.Gly510Ser) single nucleotide variant Pathogenic rs606231296 GRCh38 Chromosome 3, 53188832: 53188832
3 PRKCD NM_006254.3(PRKCD): c.1840C> T (p.Arg614Trp) single nucleotide variant Pathogenic rs606231297 GRCh38 Chromosome 3, 53189969: 53189969

Expression for Autoimmune Lymphoproliferative Syndrome, Type Iii

Search GEO for disease gene expression data for Autoimmune Lymphoproliferative Syndrome, Type Iii.

Pathways for Autoimmune Lymphoproliferative Syndrome, Type Iii

Pathways related to Autoimmune Lymphoproliferative Syndrome, Type Iii according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 CASP10 FASLG PRKCD
2
Show member pathways
12.5 CASP10 FASLG PRKCD
3
Show member pathways
12.13 FASLG PRKCD
4
Show member pathways
12.03 CASP10 FASLG
5
Show member pathways
11.96 CASP10 FASLG
6
Show member pathways
11.94 CASP10 PRKCD
7
Show member pathways
11.9 CASP10 PRKCD
8
Show member pathways
11.74 CASP10 FASLG
9
Show member pathways
11.69 CASP10 FASLG
10
Show member pathways
11.67 CASP10 FASLG
11
Show member pathways
11.59 CASP10 FASLG
12
Show member pathways
11.33 CASP10 FASLG PRKCD
13
Show member pathways
11.25 CASP10 PRKCD
14
Show member pathways
10.87 CASP10 PRKCD

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type Iii

Biological processes related to Autoimmune Lymphoproliferative Syndrome, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.26 CASP10 FASLG
2 apoptotic signaling pathway GO:0097190 9.16 CASP10 FASLG
3 apoptotic process GO:0006915 9.13 CASP10 FASLG PRKCD
4 execution phase of apoptosis GO:0097194 8.62 CASP10 PRKCD

Sources for Autoimmune Lymphoproliferative Syndrome, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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