ORPHA:851
Paris-Trousseau thrombocytopenia
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paris-Trousseau thrombocytopenia | |
| fr | Thrombocytopénie type Paris-Trousseau | |
| de | Paris-Trousseau-Syndrom | |
| es | Trombocitopenia de Paris-Trousseau | |
| it | Trombocitopenia di Paris-Trousseau | |
| nl | Trombocytopenie, Paris-Trousseau-type | |
| pt | Trombopenia de Paris-Trousseau | |
| pl | Trombocytopenia Paris i Trousseau | |
| cs | Parisův-Trousseauův typ trombocytopenie | Paris-Trousseauův typ trombocytopenie |
| uk | Тромбоцитопенія Париса-Труссо | |
| zh | Paris-Trousseau血小板减少症 | |
| tr | Paris-Trousseau trombositopeni |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188025 | E | validated | |
| OMIM | 617443 | BTNT | validated | |
| ICD-10 | D69.4 | NTBT | attributed | validated |
| ICD-11 | 3B64.01 | NTBT | index | validated |
| MONDO | 0008557 | E | validated | |
| UMLS | C1956093 | E | validated | |
| GARD | 4224 | E | 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 (2):
- ORPHA:98455Alpha granule disease
rare genetic diseases; rare hematological diseases - ORPHA:262092Partial deletion of the long arm of chromosome 11 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLI1 | Role in the phenotype of | Assessed | HGNC:3749 | ENSG00000151702 | 193067 | 11q24.3 | Fli-1 proto-oncogene, ETS transcription factor | 7703487[PMID]_22775407[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0001249 | Intellectual disability | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/851
- This record as JSON: /data/d/851.json