Isolated delta-storage pool disease
Synonyms: Isolated delta-SPD · Isolated dense-SPD · Isolated dense-storage pool disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated delta-storage pool disease | Isolated delta-SPD · Isolated dense-SPD · Isolated dense-storage pool disease |
| fr | Déficit isolé de stockage des granules plaquettaires delta | Déficit isolé de stockage des granules plaquettaires denses |
| de | Delta-Storage-Pool-Krankheit, isolierte | Isolierte d-Storage-Pool-Krankheit · Isolierte delta-SPD · Isolierte dense-SPD |
| es | Enfermedad por depósito delta aislada | Deficiencia de almacenamiento de los gránulos densos · Delta-SPD aislada |
| it | Malattia isolata da accumulo di granuli delta | Difetto isolato del pool di deposito dei granuli densi · SPD isolata dei granuli densi · SPD isolato dei granuli delta |
| nl | Geïsoleerde delta-storage pool ziekte | Geïsoleerde delta-SPD · Geïsoleerde dense-SPD · Geïsoleerde dense-storage pool ziekte |
| pt | Doença pool de armazenamento delta isolado | Delta-SPD isolado · Denso-SPD isolado · Doença de acumulação densa isolada |
| pl | Zaburzenie puli magazynowej płytek krwi - izolowany defekt ziarnistości delta | Choroba puli magazynowej-izolowany defekt ziarnistości gęstych · Izolowana delta-SPD |
| cs | Izolované střádání v delta granulích trombocytů | Izolované delta-SPD · Izolované denzní SPD · Izolované střádání v denzních granulích trombocytů |
| uk | Хвороба пулу ізольованого дельта-накопичувача | Ізольований дельта-SPD · Ізольований щільний SPD · Ізольована хвороба дельта-накопичувачів тромбоцитів |
| zh | 孤立性δ-储存池病 | 孤立性δ-储存池病 |
| tr | İzole delta-depolama havuzu hastalığı | İzole delta-SPD · İzole yoğun-SPD · İzole yoğun-depolama havuz hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617443 | E | validated | |
| ICD-10 | D69.1 | NTBT | attributed | validated |
| ICD-11 | 3B62.3 | NTBT | index | validated |
| MONDO | 0016630 | E | validated | |
| UMLS | C0032197 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:477797Isolated constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLI1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3749 | ENSG00000151702 | 193067 | 11q24.3 | Fli-1 proto-oncogene, ETS transcription factor | 24100448[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/248340
- This record as JSON: /data/d/248340.json