ALPS3
MCID: ATM083
MIFTS: 35

Autoimmune Lymphoproliferative Syndrome, Type Iii (ALPS3)

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

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Iii

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome, Type Iii:

Name: Autoimmune Lymphoproliferative Syndrome, Type Iii 56 73 29 6 71
Alps3 56 12 73
Autoimmune Lymphoproliferative Syndrome Type 3 12 15
Autoimmune Lymphoproliferative Syndrome 3 73 29
Cvid9 12 73
Immunodeficiency, Common Variable, 9, Formerly; Cvid9, Formerly 56
Autoimmune Lymphoproliferative Syndrome Type Iii 12
Immunodeficiency, Common Variable, 9, Formerly 56
Immunodeficiency, Variable, Common, Type 9 39
Immunodeficiency, Common Variable, 9 73
Common Variable Immunodeficiency 9 12
Cvid9, Formerly 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or childhood
variable manifestations


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110119
OMIM 56 615559
MeSH 43 D017074
ICD10 32 D47.9
UMLS 71 C3809928

Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iii

OMIM : 56 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 An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Iii is PRKCD (Protein Kinase C Delta), and among its related pathways/superpathways are Ceramide Pathway and VEGF Pathway (Tocris). Affiliated tissues include b cells and t cells, and related phenotypes are splenomegaly and hepatomegaly

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

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Iii

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type Iii

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 arthralgia 31 HP:0002829
4 hemolytic anemia 31 HP:0001878
5 nephrotic syndrome 31 HP:0000100
6 lymphadenopathy 31 HP:0002716
7 recurrent infections 31 HP:0002719
8 autoimmune thrombocytopenia 31 HP:0001973
9 lymphocytosis 31 HP:0100827
10 membranous nephropathy 31 HP:0012578

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Skeletal:
arthralgia
polychondritis, autoimmune

Hematology:
autoimmune thrombocytopenia
antiphospholipid syndrome hemolytic anemia

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

Abdomen Liver:
hepatomegaly

Immunology:
lymphadenopathy
recurrent infections
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

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 3 29
2 Autoimmune Lymphoproliferative Syndrome, Type Iii 29 PRKCD

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iii

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

40
B Cells, T Cells

Publications for Autoimmune Lymphoproliferative Syndrome, Type Iii

Articles related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

# Title Authors PMID Year
1
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. 6 56
23666743 2013
2
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans. 56 6
23430113 2013
3
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ. 56 6
23319571 2013
4
The expanding spectrum of the autoimmune lymphoproliferative syndromes. 56
24240292 2013
5
Overexpression of the antiapoptotic gene Bfl-1 in B cells from patients with familial systemic lupus erythematosus. 56
17402365 2007
6
Increased proliferation of B cells and auto-immunity in mice lacking protein kinase Cdelta. 56
11976687 2002
7
Autoimmune lymphoproliferative syndrome type III, an indefinite disorder. 61
11378568 2001
8
Autoimmune lymphoproliferative syndrome type III: an indefinite disorder. 61
11342357 2001

Variations for Autoimmune Lymphoproliferative Syndrome, Type Iii

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

6 (show top 50) (show all 88) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKCD NM_006254.4(PRKCD):c.1352+1G>ASNV Pathogenic 89076 rs398122958 3:53220712-53220712 3:53186696-53186696
2 PRKCD NM_006254.4(PRKCD):c.1528G>A (p.Gly510Ser)SNV Pathogenic 157674 rs606231296 3:53222848-53222848 3:53188832-53188832
3 PRKCD NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp)SNV Pathogenic 157675 rs606231297 3:53223985-53223985 3:53189969-53189969
4 PRKCD NM_006254.4(PRKCD):c.788-2A>GSNV Likely pathogenic 541623 rs1295207359 3:53218888-53218888 3:53184872-53184872
5 PRKCD NM_006254.4(PRKCD):c.1213G>A (p.Ala405Thr)SNV Conflicting interpretations of pathogenicity 648341 3:53220309-53220309 3:53186293-53186293
6 PRKCD NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser)SNV Conflicting interpretations of pathogenicity 440191 rs33911937 3:53220000-53220000 3:53185984-53185984
7 PRKCD NM_006254.4(PRKCD):c.715A>G (p.Met239Val)SNV Uncertain significance 474769 rs369236318 3:53217525-53217525 3:53183509-53183509
8 PRKCD NM_006254.4(PRKCD):c.890G>A (p.Arg297Lys)SNV Uncertain significance 474771 rs782243565 3:53219621-53219621 3:53185605-53185605
9 PRKCD NM_006254.4(PRKCD):c.1296G>T (p.Gly432=)SNV Uncertain significance 650951 3:53220655-53220655 3:53186639-53186639
10 PRKCD NM_006254.4(PRKCD):c.1345C>T (p.Arg449Cys)SNV Uncertain significance 655541 3:53220704-53220704 3:53186688-53186688
11 PRKCD NM_006254.4(PRKCD):c.1691C>T (p.Thr564Met)SNV Uncertain significance 639035 3:53223210-53223210 3:53189194-53189194
12 PRKCD NM_006254.4(PRKCD):c.584C>T (p.Ala195Val)SNV Uncertain significance 541621 rs977894332 3:53217149-53217149 3:53183133-53183133
13 PRKCD NM_006254.4(PRKCD):c.1981G>A (p.Ala661Thr)SNV Uncertain significance 541625 rs149202171 3:53226232-53226232 3:53192216-53192216
14 PRKCD NM_006254.4(PRKCD):c.1036A>G (p.Ile346Val)SNV Uncertain significance 541622 rs1434557148 3:53219993-53219993 3:53185977-53185977
15 PRKCD NM_006254.4(PRKCD):c.1081G>A (p.Gly361Arg)SNV Uncertain significance 541624 rs369078144 3:53220038-53220038 3:53186022-53186022
16 PRKCD NM_006254.4(PRKCD):c.22G>A (p.Ala8Thr)SNV Uncertain significance 571838 rs368029897 3:53212460-53212460 3:53178444-53178444
17 PRKCD NM_006254.4(PRKCD):c.928G>A (p.Val310Ile)SNV Uncertain significance 573919 rs773144753 3:53219659-53219659 3:53185643-53185643
18 PRKCD NM_006254.4(PRKCD):c.604G>A (p.Asp202Asn)SNV Uncertain significance 569464 rs149165175 3:53217169-53217169 3:53183153-53183153
19 PRKCD NM_006254.4(PRKCD):c.940C>G (p.Gln314Glu)SNV Uncertain significance 569535 rs1553668823 3:53219671-53219671 3:53185655-53185655
20 PRKCD NM_006254.4(PRKCD):c.1352+4C>TSNV Uncertain significance 576675 rs202155309 3:53220715-53220715 3:53186699-53186699
21 PRKCD NM_006254.4(PRKCD):c.949G>A (p.Glu317Lys)SNV Uncertain significance 618335 rs55929201 3:53219680-53219680 3:53185664-53185664
22 PRKCD NM_006254.4(PRKCD):c.889-9C>TSNV Uncertain significance 626154 rs782612523 3:53219611-53219611 3:53185595-53185595
23 PRKCD NM_006254.4(PRKCD):c.68C>T (p.Ala23Val)SNV Uncertain significance 660963 3:53212506-53212506 3:53178490-53178490
24 PRKCD NM_006254.4(PRKCD):c.202G>A (p.Val68Ile)SNV Uncertain significance 661777 3:53213679-53213679 3:53179663-53179663
25 PRKCD NM_006254.4(PRKCD):c.280C>T (p.Arg94Cys)SNV Uncertain significance 653371 3:53213757-53213757 3:53179741-53179741
26 PRKCD NM_006254.4(PRKCD):c.417C>G (p.Phe139Leu)SNV Uncertain significance 659142 3:53215500-53215500 3:53181484-53181484
27 PRKCD NM_006254.4(PRKCD):c.549C>A (p.Asn183Lys)SNV Uncertain significance 645396 3:53215726-53215726 3:53181710-53181710
28 PRKCD NM_006254.4(PRKCD):c.580G>A (p.Ala194Thr)SNV Uncertain significance 643195 3:53217145-53217145 3:53183129-53183129
29 PRKCD NM_006254.4(PRKCD):c.610A>T (p.Ile204Phe)SNV Uncertain significance 659131 3:53217175-53217175 3:53183159-53183159
30 PRKCD NM_006254.4(PRKCD):c.961G>A (p.Gly321Arg)SNV Uncertain significance 642708 3:53219692-53219692 3:53185676-53185676
31 PRKCD NM_006254.4(PRKCD):c.1060G>A (p.Val354Ile)SNV Uncertain significance 658787 3:53220017-53220017 3:53186001-53186001
32 PRKCD NM_006254.4(PRKCD):c.1060G>C (p.Val354Leu)SNV Uncertain significance 642881 3:53220017-53220017 3:53186001-53186001
33 PRKCD NM_006254.4(PRKCD):c.1707C>G (p.Arg569=)SNV Uncertain significance 653831 3:53223226-53223226 3:53189210-53189210
34 PRKCD NM_006254.4(PRKCD):c.1781_1782delinsTG (p.Thr594Met)indel Uncertain significance 660505 3:53223926-53223927 3:53189910-53189911
35 PRKCD NM_006254.4(PRKCD):c.1872+1G>ASNV Uncertain significance 663401 3:53224018-53224018 3:53190002-53190002
36 PRKCD NM_006254.4(PRKCD):c.657+3G>ASNV Uncertain significance 642091 3:53217225-53217225 3:53183209-53183209
37 PRKCD NM_006254.4(PRKCD):c.214G>A (p.Val72Met)SNV Uncertain significance 837398 3:53213691-53213691 3:53179675-53179675
38 PRKCD NM_006254.4(PRKCD):c.373G>A (p.Val125Met)SNV Uncertain significance 853731 3:53215280-53215280 3:53181264-53181264
39 PRKCD NM_006254.4(PRKCD):c.395G>A (p.Arg132His)SNV Uncertain significance 863552 3:53215478-53215478 3:53181462-53181462
40 PRKCD NM_006254.4(PRKCD):c.458T>C (p.Ile153Thr)SNV Uncertain significance 849910 3:53215541-53215541 3:53181525-53181525
41 PRKCD NM_006254.4(PRKCD):c.616G>A (p.Gly206Ser)SNV Uncertain significance 863476 3:53217181-53217181 3:53183165-53183165
42 PRKCD NM_006254.4(PRKCD):c.744C>T (p.Gly248=)SNV Uncertain significance 853863 3:53217554-53217554 3:53183538-53183538
43 PRKCD NM_006254.4(PRKCD):c.799A>C (p.Asn267His)SNV Uncertain significance 835455 3:53218901-53218901 3:53184885-53184885
44 PRKCD NM_006254.4(PRKCD):c.896C>T (p.Ser299Phe)SNV Uncertain significance 844312 3:53219627-53219627 3:53185611-53185611
45 PRKCD NM_006254.4(PRKCD):c.899G>A (p.Arg300Gln)SNV Uncertain significance 838235 3:53219630-53219630 3:53185614-53185614
46 PRKCD NM_006254.4(PRKCD):c.925C>G (p.Pro309Ala)SNV Uncertain significance 851463 3:53219656-53219656 3:53185640-53185640
47 PRKCD NM_006254.4(PRKCD):c.998C>A (p.Thr333Asn)SNV Uncertain significance 842965 3:53219955-53219955 3:53185939-53185939
48 PRKCD NM_006254.4(PRKCD):c.1040A>G (p.Asn347Ser)SNV Uncertain significance 855612 3:53219997-53219997 3:53185981-53185981
49 PRKCD NM_006254.4(PRKCD):c.1211C>G (p.Ala404Gly)SNV Uncertain significance 864015 3:53220307-53220307 3:53186291-53186291
50 PRKCD NM_006254.4(PRKCD):c.1244G>A (p.Cys415Tyr)SNV Uncertain significance 840220 3:53220340-53220340 3:53186324-53186324

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.05 PRKCD CASP10
2
Show member pathways
10.54 PRKCD CASP10

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type Iii

Sources for Autoimmune Lymphoproliferative Syndrome, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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