Autosomal dominant thrombocytopenia with platelet secretion defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant thrombocytopenia with platelet secretion defect | |
| fr | Thrombocytopénie autosomique dominante avec défaut de sécrétion plaquettaire | |
| de | Autosomal-dominante Thrombozytopenie mit Defekt der Plättchensekretion | |
| es | Trombocitopenia autosómica dominante con defecto de la secreción plaquetaria | |
| it | Trombocitopenia autosomica dominante con difetto della secrezione delle piastrine | |
| nl | Autosomaal dominante trombocytopenie met defect van bloedplaatjessecretie | |
| pt | Trombocitopenia autossómica dominante com defeito da secreção plaquetária | |
| pl | Autosomalna dominująca małopłytkowość z defektem sekrecji płytkowej | |
| cs | Autozomálně dominantní trombocytopenie s poruchou sekrece destiček | |
| uk | Аутосомно-домінантна тромбоцитопенія з дефектом секреції тромбоцитів | |
| zh | 常染色体显性血小板减少症伴血小板分泌缺陷 | |
| tr | Trombosit sekresyon defekti ile seyreden otozomal dominant trombositopeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616913 | BTNT | validated | |
| OMIM | 619130 | BTNT | validated | |
| ICD-10 | D69.4 | NTBT | attributed | validated |
| ICD-11 | 3B64.01 | NTBT | attributed | validated |
| MONDO | 14830 | E | validated | |
| UMLS | C5568864 | 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 |
|---|---|---|---|---|---|---|---|---|
| SLFN14 | Disease-causing germline mutation(s) in | Assessed | HGNC:32689 | ENSG00000236320 | 614958 | 17q12 | schlafen family member 14 | 26280575[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 26280575[PMID]_26769223[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26280575[PMID]_26769223[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466806
- This record as JSON: /data/d/466806.json