Hereditary isolated thrombocytopenia with normal platelets size
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary isolated thrombocytopenia with normal platelets size | |
| fr | Thrombocytopénie héréditaire isolée avec plaquettes de taille normale | |
| de | Hereditäre isolierte Thrombozytopenie mit normaler Thrombozytengröße | |
| es | Trombocitopenia aislada hereditaria con plaquetas de tamaño normal | |
| it | Trombocitopenia ereditaria isolata con piastrine normali | |
| nl | Erfelijke geïsoleerde trombocytopenie met normale bloedplaatjes | Hereditaire geïsoleerde trombocytopenie met normale trombocyten |
| pt | Trombocitopenia hereditária com plaquetas normais | |
| pl | Dziedziczna małopłytkowość z prawidłowymi płytkami krwi | |
| cs | Dědičná trombocytopenie s normálními destičkami | |
| uk | Спадкова тромбоцитопенія з нормальними тромбоцитами | |
| zh | 血小板正常的遗传性血小板减少症 | |
| tr | Normal trombositler ile seyreden kalıtsal trombositopeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188000 | BTNT | validated | |
| OMIM | 273900 | BTNT | validated | |
| OMIM | 313900 | BTNT | validated | |
| OMIM | 612004 | BTNT | validated | |
| ICD-10 | D69.4 | NTBT | attributed | validated |
| ICD-11 | 3B64.01 | NTBT | attributed | validated |
| MONDO | 0017057 | E | validated | |
| UMLS | C5190888 | 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
Genes
0 direct · 6 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ANKRD26 | ORPHA:168629Autosomal isolated thrombocytopenia with normal platelets size | Disease-causing germline mutation(s) in | Assessed | HGNC:29186 | ENSG00000107890 | 610855 | 10p12.1 | ankyrin repeat domain 26 | 26175287[PMID] |
| CYCS | ORPHA:168629Autosomal isolated thrombocytopenia with normal platelets size | Disease-causing germline mutation(s) in | Assessed | HGNC:19986 | ENSG00000172115 | 123970 | 7p15.3 | cytochrome c, somatic | 18345000[PMID]_24326104[PMID] |
| ETV6 | ORPHA:168629Autosomal isolated thrombocytopenia with normal platelets size | Disease-causing germline mutation(s) in | Assessed | HGNC:3495 | ENSG00000139083 | 600618 | 12p13.2 | ETS variant transcription factor 6 | 27365488[PMID] |
| IKZF5 | ORPHA:168629Autosomal isolated thrombocytopenia with normal platelets size | Disease-causing germline mutation(s) in | Assessed | HGNC:14283 | ENSG00000095574 | 606238 | 10q26.13 | IKAROS family zinc finger 5 | 31217188[PMID] |
| MASTL | ORPHA:168629Autosomal isolated thrombocytopenia with normal platelets size | Disease-causing germline mutation(s) in | Assessed | HGNC:19042 | ENSG00000120539 | 608221 | 10p12.1 | microtubule associated serine/threonine kinase like | 12890928[PMID] |
| WAS | ORPHA:852X-linked isolated thrombocytopenia with normal platelets size | Disease-causing germline mutation(s) in | Assessed | HGNC:12731 | ENSG00000015285 | 300392 | Xp11.23 | WASP actin nucleation promoting factor | 20301357[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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/268322
- This record as JSON: /data/d/268322.json