ORPHA:693681
Activated PI3K-delta syndrome 2
Synonyms: APDS type 2 · APDS2 · Activated p110delta syndrome, type 2 · Activated phosphoinositide 3-kinase delta syndrome type 2 · PASLI-R1 · Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutations, type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Activated PI3K-delta syndrome 2 | APDS type 2 · APDS2 · Activated p110delta syndrome, type 2 · Activated phosphoinositide 3-kinase delta syndrome type 2 · PASLI-R1 · Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutations, type 2 |
| fr | Syndrome de PI3K-delta activée 2 | APDS type 2 · APDS2 · Syndrome de déficit immunitaire-lymphadénopathie et cellules T sénéscentes dus à des mutations activatrices de p110delta type 2 |
| de | Aktivierte PIK3-Delta-Syndrom 2 | APDS Typ 2 · APDS2 · Aktivierte Phosphoinositid-3-Kinase-delta-Syndrom Typ 2 · PASLI-R1 · Seneszente T-Zellen-Lymphadenopathie-Immundefektsyndrom durch p110delta-aktivierende Mutationen vom Typ 2 |
| es | Síndrome de PIK3-delta activada 2 | APDS tipo 2 · APDS2 · PASLI-R1 · Síndrome de células T senescentes-linfadenopatía-inmunodeficiencia por mutaciones activadoras en p110delta, tipo 2 · Síndrome de fosfoinosítido 3-quinasa delta activada 2 · Síndrome de p110delta activada tipo 2 |
| it | Sindrome da attivazione di PI3K-delta 2 | APDS · APDS tipo 2 · APDS2 · Sindrome da attivazione di fosfoinositide 3-chinasi delta tipo 2 · PASLI-R1 · Sindrome cellule T senescenti-linfoadenopatia-immunodeficienza da mutazioni attivanti p110delta, tipo 2 |
| nl | Geactiveerd PIK3-delta-syndroom 2 | APDS type 2 · APDS2 · Geactiveerd fosfoinositide 3-kinase delta-syndroom type 2 · Geactiveerd p110delta-syndroom, type 2 · PASLI-R1 · Senescente T-cellen - lymfadenopathie - immuundeficiëntie-syndroom door p110delta-activerende mutaties, type 2 |
| pt | Síndrome 2 de PIK3-delta activado | APDS tipo 2 · APDS2 · PASLI-R1 · Síndrome de células T senescentes-linfadenopatia-imunodeficiência devido a mutações ativadoras de p110delta, tipo 2 · Síndrome de fosfoinositídeo 3-quinase delta ativada tipo 2 · Síndrome p110delta activado, tipo 2 |
| pl | Zespół aktywacji PI3K-delta typu 2 | = en |
| cs | Activated PI3K-delta syndrome 2 | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616005 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.0Y | NTBT | attributed | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:397596Activated PI3K-delta syndrome
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIK3R1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:8979 | ENSG00000145675 | 171833 | 5q13.1 | phosphoinositide-3-kinase regulatory subunit 1 | 25133428[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
21 annotations · validated 2025-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002110 | Bronchiectasis | |
| HP:0005387 | Combined immunodeficiency | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0008348 | Decreased circulating IgG2 level | |
| HP:0010976 | Decreased total B cell count | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0011956 | Intestinal lymphoid nodular hyperplasia | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0004322 | Short stature | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0032204 | Chronic active Epstein-Barr virus infection | |
| HP:0005411 | Chronic intestinal candidiasis | |
| HP:0000509 | Conjunctivitis | |
| HP:0002014 | Diarrhea | |
| HP:0002240 | Hepatomegaly | |
| HP:0002024 | Malabsorption | |
| HP:0032163 | Molluscum contagiosum | |
| HP:0032247 | Persistent CMV viremia | |
Annotation source: 34249806[PMID]_34422726[PMID]_27116393[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/693681
- This record as JSON: /data/d/693681.json