Thrombocythemia with distal limb defects
Synonyms: Familial thrombocytosis with transverse limb defect · Hereditary thrombocytosis with transverse limb defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thrombocythemia with distal limb defects | Familial thrombocytosis with transverse limb defect · Hereditary thrombocytosis with transverse limb defect |
| fr | Thrombocytémie avec anomalies distales des membres | Thrombocytose familiale avec anomalie réductionnelle transverse des membres · Thrombocytose héréditaire avec anomalie réductionnelle transverse des membres |
| de | Hereditäre Thrombozytose mit transversalen Extremitätendefekt | Thrombozytose, familiäre, mit transversalen Extremitätendefekt |
| es | Trombocitopenia con defectos distales de las extremidades | Trombocitosis familiar con un defecto trasversal de las extremidades |
| it | Trombocitemia con difetti della porzione distale degli arti | Trombocitosi familiare con difetto trasversale degli arti |
| nl | Trombocytemie met distale ledemaatdefecten | Familiale trombocytose met transversaal ledemaatdefect · Hereditaire trombocytose met transversaal ledemaatdefect |
| pt | Trombocitose hereditária com defeitos terminais transversos dos membros | |
| pl | Nadpłytkowość z wadami dystalnymi kończyn | Nadpłytkowość rodzinna z odwróconą wadą kończyn |
| cs | Hereditární trombocytóza s transverzní končetinovou poruchou | Familiární trombocytóza s transverzní končetinovou poruchou |
| uk | Тромбоцитемія з дистальними ураженнями кінцівок | Сімейний тромбоцитоз з поперечним дефектом кінцівок · Спадковий тромбоцитоз з поперечним дефектом кінцівок |
| zh | 伴有远端肢体缺损的血小板增多症 | 遗传性血小板增多症伴横向肢体缺损 |
| tr | Distal ekstremite defekti ile seyreden trombositemi | Enine ekstremite defekti ile seyreden ailesel trombositoz · Enine ekstremite defekti ile seyreden kalıtsal trombositoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0018000 | E | validated | |
| UMLS | C4749944 | 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 (3):
- ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:248401Rare thrombotic disorder due to a constitutional platelet anomaly
rare genetic diseases; rare hematological diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| THPO | Disease-causing germline mutation(s) in | Assessed | HGNC:11795 | ENSG00000090534 | 600044 | 3q27.1 | thrombopoietin | 19553636[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 19553636[PMID] | |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329319
- This record as JSON: /data/d/329319.json