ALPS3
MCID: ATM083
MIFTS: 38

Autoimmune Lymphoproliferative Syndrome, Type Iii (ALPS3) malady

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

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Iii

Aliases & Descriptions for Autoimmune Lymphoproliferative Syndrome, Type Iii:

Name: Autoimmune Lymphoproliferative Syndrome, Type Iii 54 66 69
Autoimmune Lymphoproliferative Syndrome Type 3 12 14
Autoimmune Lymphoproliferative Syndrome 3 66 29
Alps3 12 66
Cvid9 12 66
Autoimmune Lymphoproliferative Syndrome Type Iii 12
Immunodeficiency, Common Variable, 9 66
Common Variable Immunodeficiency 9 12

Characteristics:

HPO:

32
autoimmune lymphoproliferative syndrome, type iii:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 615559
Disease Ontology 12 DOID:0110119
ICD10 33 D47.9
MedGen 40 CN182401
MeSH 42 D017074

Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iii

OMIM : 54 Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The... (615559) more...

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, Type Iii, also known as autoimmune lymphoproliferative syndrome type 3, is related to prkcd-related autoimmune lymphoproliferative syndrome and immunodeficiency, common variable, 1, 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. The drugs Dexamethasone and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include b cells.

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

UniProtKB/Swiss-Prot : 66 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

Graphical network of the top 20 diseases related to Autoimmune Lymphoproliferative Syndrome, Type Iii:



Diseases related to Autoimmune Lymphoproliferative Syndrome, Type Iii

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type Iii

Symptoms by clinical synopsis from OMIM:

615559

Clinical features from OMIM:

615559

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 arthralgia 32 HP:0002829
2 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240
4 nephrotic syndrome 32 HP:0000100
5 recurrent infections 32 HP:0002719
6 lymphadenopathy 32 HP:0002716
7 autoimmune thrombocytopenia 32 HP:0001973
8 membranous nephropathy 32 HP:0012578

UMLS symptoms related to Autoimmune Lymphoproliferative Syndrome, Type Iii:


arthralgia

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Iii

Drugs for Autoimmune Lymphoproliferative Syndrome, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
2
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
3 Antiemetics Phase 3
4 Anti-Inflammatory Agents Phase 3
5 Antineoplastic Agents, Hormonal Phase 3
6 Autonomic Agents Phase 3
7 BB 1101 Phase 3
8 Dexamethasone 21-phosphate Phase 3
9 Dexamethasone acetate Phase 3 1177-87-3
10 Gastrointestinal Agents Phase 3
11 glucocorticoids Phase 3
12 HIV Protease Inhibitors Phase 3
13 Hormone Antagonists Phase 3
14 Hormones Phase 3
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
16 Peripheral Nervous System Agents Phase 3
17
protease inhibitors Phase 3
18 Antibodies Phase 1
19 Antibodies, Monoclonal Phase 1
20 Immunoglobulins Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Prednisone or Dexamethasone in Newly Diagnosed, Previously Untreated Primary Immune Thrombocytopenic Purpura Completed NCT00657410 Phase 3
2 Ipilimumab After Allogeneic Stem Cell Transplant in Treating Patients With Persistent or Progressive Cancer Completed NCT00060372 Phase 1

Search 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:

id Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type Iii 29

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iii

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

39
B Cells

Publications for Autoimmune Lymphoproliferative Syndrome, Type Iii

Articles related to Autoimmune Lymphoproliferative Syndrome, Type Iii:

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

Variations for Autoimmune Lymphoproliferative Syndrome, Type Iii

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

6
id 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 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 CASP10 FASLG PRKCD
2
Show member pathways
12.5 CASP10 FASLG PRKCD
3
Show member pathways
12.12 FASLG PRKCD
4
Show member pathways
11.99 CASP10 PRKCD
5
Show member pathways
11.94 CASP10 FASLG
6
Show member pathways
11.88 CASP10 PRKCD
7
Show member pathways
11.74 CASP10 FASLG
8
Show member pathways
11.69 CASP10 FASLG
9
Show member pathways
11.67 CASP10 FASLG
10
Show member pathways
11.6 CASP10 FASLG
11
Show member pathways
11.33 CASP10 FASLG PRKCD
12
Show member pathways
11.25 CASP10 PRKCD
13
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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....