ORPHA:693661
Activated PI3K-delta syndrome 1
Synonyms: PASLI-CD · Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1 · APDS type 1 · APDS1 · Activated p110delta syndrome, type 1 · Activated phosphoinositide 3-kinase delta syndrome-1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- 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 1 | PASLI-CD · Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1 · APDS type 1 · APDS1 · Activated p110delta syndrome, type 1 · Activated phosphoinositide 3-kinase delta syndrome-1 |
| fr | Syndrome de PI3K-delta activée 1 | APDS type 1 · APDS1 · Syndrome de déficit immunitaire-lymphadénopathie et cellules T sénéscentes dus à des mutations activatrices de p110delta type 1 |
| de | Aktivierte PIK3-Delta-Syndrom 1 | APDS Typ 1 · APDS1 · Aktivierte Phosphoinositid-3-Kinase-delta-Syndrom Typ 1 · PASLI-CD · Seneszente T-Zellen-Lymphadenopathie-Immundefektsyndrom durch p110delta-aktivierende Mutationen vom Typ 1 |
| es | Síndrome de PIK3-delta activada 1 | APDS tipo 1 · APDS1 · PASLI-CD · Síndrome de células T senescentes-linfadenopatía-inmunodeficiencia por mutaciones activadoras en p110delta, tipo 1 · Síndrome de fosfoinosítido 3-quinasa delta activada 1 · Síndrome de p110delta activada tipo 1 |
| it | Activated PIK3-delta syndrome 1 | |
| nl | Geactiveerd PIK3-delta-syndroom 1 | APDS type 1 · APDS1 · Geactiveerd fosfoinositide 3-kinase delta-syndroom type 1 · Geactiveerd p110delta-syndroom, type 1 · PASLI-CD · Senescente T-cellen - lymfadenopathie - immuundeficiëntie-syndroom door p110delta-activerende mutaties, type 1 |
| pt | Síndrome PI3K-delta activada 1 | APDS tipo 1 · APDS1 · PASLI-CD · Síndrome de células T senescentes-linfadenopatia-imunodeficiência devida a mutações ativadoras de p110delta, tipo 1 · Síndrome de fosfoinositídeo 3-quinase delta ativada 1 · Síndrome p110delta activada, tipo 1 |
| pl | Zespół aktywacji PI3K-delta typu 1 | = en |
| cs | Activated PI3K-delta syndrome 1 | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615513 | 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 |
|---|---|---|---|---|---|---|---|---|
| PIK3CD | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:8977 | ENSG00000171608 | 602839 | 1p36.22 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | 24136356[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
22 annotations · validated 2025-03-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002205 | Recurrent respiratory infections | |
| Frequent (79-30%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0002110 | Bronchiectasis | |
| HP:0010976 | Decreased total B cell count | |
| HP:0002240 | Hepatomegaly | |
| HP:0011956 | Intestinal lymphoid nodular hyperplasia | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0032204 | Chronic active Epstein-Barr virus infection | |
| HP:0000509 | Conjunctivitis | |
| HP:0000620 | Dacryocystitis | |
| HP:0002014 | Diarrhea | |
| HP:0001263 | Global developmental delay | |
| HP:0002024 | Malabsorption | |
| HP:0032163 | Molluscum contagiosum | |
| HP:0032247 | Persistent CMV viremia | |
| HP:0020114 | Persistent human papillomavirus infection | |
| HP:0005401 | Recurrent candida infections | |
| HP:0011110 | Recurrent tonsillitis | |
| HP:0004322 | Short stature | |
| HP:0200043 | Verrucae | |
| Very rare (<4-1%) | ||
| HP:0031699 | Disseminated cryptosporidium infection | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 34422726[PMID]_34249806[PMID]_27555459[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/693661
- This record as JSON: /data/d/693661.json