MCID: PSL001
MIFTS: 27

Pasli Disease

Categories: Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Pasli Disease

MalaCards integrated aliases for Pasli Disease:

Name: Pasli Disease 50
Activated Pi3k-Delta Syndrome 50 25 56 69
Apds 50 25 56
Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due to P110delta-Activating Mutation 56
P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency 50
P110δ-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency 25
Immunodeficiency 14 25
Pasli 25

Characteristics:

Orphanet epidemiological data:

56
activated pi3k-delta syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood,Infancy;

Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

Orphanet 56 ORPHA397596
UMLS via Orphanet 70 C3714976
ICD10 via Orphanet 34 D81.8

Summaries for Pasli Disease

MalaCards based summary : Pasli Disease, also known as activated pi3k-delta syndrome, is related to immunodeficiency 14 and autoimmune progesterone dermatitis. An important gene associated with Pasli Disease is PIK3CD (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta), and among its related pathways/superpathways are Integrin Pathway and Regulation of lipid metabolism Insulin signaling-generic cascades. Affiliated tissues include t cells, and related phenotypes are Decreased viability after gemcitabine stimulation and Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)

Related Diseases for Pasli Disease

Diseases related to Pasli Disease via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 immunodeficiency 14 11.8
2 autoimmune progesterone dermatitis 11.5
3 giant cell glioblastoma 9.5 PIK3R1 PTEN
4 patella hypoplasia mental retardation 8.6 PIK3CD PIK3R1 PTEN

Symptoms & Phenotypes for Pasli Disease

GenomeRNAi Phenotypes related to Pasli Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after gemcitabine stimulation GR00107-A-2 8.96 PIK3CD PIK3R1
2 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 8.62 PIK3R1 PTEN

Drugs & Therapeutics for Pasli Disease

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Extension to the Study of Efficacy of CDZ173 in Patients With APDS/PASLI Recruiting NCT02859727 Phase 2, Phase 3 CDZ173
2 Safety, Pharmacokinetic (PK) and Pharmacodynamic (PD) Study of Repeat Doses of Inhaled GSK2269557 in Patients With APDS/PASLI Recruiting NCT02593539 Phase 2 GSK2269557 DPI 500 mcg

Search NIH Clinical Center for Pasli Disease

Genetic Tests for Pasli Disease

Anatomical Context for Pasli Disease

MalaCards organs/tissues related to Pasli Disease:

39
T Cells

Publications for Pasli Disease

Variations for Pasli Disease

ClinVar genetic disease variations for Pasli Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CD NM_005026.4(PIK3CD): c.3061G> A (p.Glu1021Lys) single nucleotide variant Pathogenic rs397518423 GRCh37 Chromosome 1, 9787030: 9787030
2 PIK3CD NM_005026.4(PIK3CD): c.1002C> A (p.Asn334Lys) single nucleotide variant Pathogenic rs28730670 GRCh37 Chromosome 1, 9777666: 9777666
3 PIK3CD NM_005026.4(PIK3CD): c.1573G> A (p.Glu525Lys) single nucleotide variant Pathogenic rs587777389 GRCh37 Chromosome 1, 9780851: 9780851
4 PIK3CD NM_005026.4(PIK3CD): c.1246T> C (p.Cys416Arg) single nucleotide variant Pathogenic rs587777390 GRCh37 Chromosome 1, 9779982: 9779982

Expression for Pasli Disease

Search GEO for disease gene expression data for Pasli Disease.

Pathways for Pasli Disease

Pathways related to Pasli Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 83)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 PIK3CD PIK3R1 PTEN
2
Show member pathways
12.62 PIK3CD PIK3R1 PTEN
3
Show member pathways
12.61 PIK3CD PIK3R1 PTEN
4
Show member pathways
12.57 PIK3CD PIK3R1 PTEN
5
Show member pathways
12.56 PIK3CD PIK3R1 PTEN
6
Show member pathways
12.51 PIK3CD PIK3R1 PTEN
7
Show member pathways
12.5 PIK3CD PIK3R1 PTEN
8
Show member pathways
12.48 PIK3CD PIK3R1 PTEN
9
Show member pathways
12.44 PIK3CD PIK3R1 PTEN
10 12.39 PIK3CD PIK3R1 PTEN
11 12.38 PIK3CD PIK3R1 PTEN
12
Show member pathways
12.34 PIK3CD PIK3R1 PTEN
13
Show member pathways
12.3 PIK3CD PIK3R1 PTEN
14
Show member pathways
12.24 PIK3CD PIK3R1 PTEN
15
Show member pathways
12.23 PIK3CD PIK3R1 PTEN
16
Show member pathways
12.2 PIK3CD PIK3R1 PTEN
17
Show member pathways
12.16 PIK3CD PIK3R1 PTEN
18
Show member pathways
12.09 PIK3R1 PTEN
19
Show member pathways
12.08 PIK3CD PIK3R1
20
Show member pathways
12.08 PIK3CD PIK3R1
21
Show member pathways
12.08 PIK3CD PIK3R1 PTEN
22
Show member pathways
12.07 PIK3CD PIK3R1
23 12.06 PIK3CD PIK3R1
24 12.06 PIK3CD PIK3R1
25
Show member pathways
12.06 PIK3CD PIK3R1 PTEN
26
Show member pathways
12.05 PIK3CD PIK3R1
27 12.05 PIK3CD PIK3R1
28
Show member pathways
12 PIK3CD PTEN
29 11.99 PIK3CD PIK3R1
30
Show member pathways
11.98 PIK3CD PIK3R1
31
Show member pathways
11.97 PIK3CD PIK3R1
32 11.96 PIK3R1 PTEN
33
Show member pathways
11.96 PIK3CD PIK3R1 PTEN
34
Show member pathways
11.95 PIK3CD PIK3R1
35
Show member pathways
11.94 PIK3CD PIK3R1
36
Show member pathways
11.93 PIK3CD PIK3R1 PTEN
37
Show member pathways
11.92 PIK3CD PIK3R1
38
Show member pathways
11.91 PIK3CD PIK3R1
39
Show member pathways
11.9 PIK3CD PIK3R1
40
Show member pathways
11.9 PIK3R1 PTEN
41 11.88 PIK3CD PIK3R1
42 11.87 PIK3CD PIK3R1
43
Show member pathways
11.86 PIK3CD PIK3R1 PTEN
44 11.85 PIK3CD PIK3R1
45 11.83 PIK3CD PIK3R1
46
Show member pathways
11.82 PIK3CD PIK3R1
47 11.81 PIK3CD PIK3R1
48
Show member pathways
11.81 PIK3CD PIK3R1 PTEN
49 11.78 PIK3CD PIK3R1
50 11.76 PIK3R1 PTEN

GO Terms for Pasli Disease

Cellular components related to Pasli Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase complex GO:0005942 8.62 PIK3CD PIK3R1

Biological processes related to Pasli Disease according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.51 PIK3CD PIK3R1
2 axon guidance GO:0007411 9.49 PIK3CD PIK3R1
3 protein stabilization GO:0050821 9.48 PIK3R1 PTEN
4 phosphatidylinositol phosphorylation GO:0046854 9.43 PIK3CD PIK3R1
5 cellular response to insulin stimulus GO:0032869 9.4 PIK3R1 PTEN
6 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.37 PIK3CD PIK3R1
7 T cell receptor signaling pathway GO:0050852 9.33 PIK3CD PIK3R1 PTEN
8 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.32 PIK3CD PIK3R1
9 phosphatidylinositol 3-kinase signaling GO:0014065 9.26 PIK3CD PIK3R1
10 platelet activation GO:0030168 9.16 PIK3R1
11 phosphatidylinositol-mediated signaling GO:0048015 9.13 PIK3CD PIK3R1 PTEN
12 phosphatidylinositol biosynthetic process GO:0006661 8.8 PIK3CD PIK3R1 PTEN

Molecular functions related to Pasli Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 PIK3CD PIK3R1
2 1-phosphatidylinositol-3-kinase activity GO:0016303 8.62 PIK3CD PIK3R1

Sources for Pasli Disease

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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