hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
type: Thing
description: Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML
additional property: PropertyValue
  property ID: P31
  value: rare disease
additional property: PropertyValue
  property ID: P31
  value: class of disease
additional property: PropertyValue
  property ID: P279
  value: isolated constitutional thrombocytopenia
additional property: PropertyValue
  property ID: P279
  value: dense granule disease
additional property: PropertyValue
  property ID: P279
  value: hereditary neoplastic syndromes
additional property: PropertyValue
  property ID: P486
  value: C563324
additional property: PropertyValue
  property ID: P492
  value: 601399
additional property: PropertyValue
  property ID: P1550
  value: 71290
additional property: PropertyValue
  property ID: P1748
  value: C162696
additional property: PropertyValue
  property ID: P2293
  value: RUNX1
additional property: PropertyValue
  property ID: P2293
  value: ETV6
additional property: PropertyValue
  property ID: P2888
  value: http://www.orpha.net/ORDO/Orphanet_71290
additional property: PropertyValue
  property ID: P2892
  value: C1832388
additional property: PropertyValue
  property ID: P4229
  value: D69.4
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0011071
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: established
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 5
      unique citations norm: 0.002
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 5
  monthly pageviews: 0
  yearly pageviews: 0
  tier: established
claims:
  P31:
    value: Q929833
    source count: 0
    confidence: 0.0
    value label: rare disease
  P31:
    value: Q112193867
    source count: 0
    confidence: 0.0
    value label: class of disease
  P279:
    value: Q55788347
    source count: 1
    confidence: 0.2
    value label: isolated constitutional thrombocytopenia
  P279:
    value: Q55789133
    source count: 1
    confidence: 0.2
    value label: dense granule disease
  P279:
    value: Q1348398
    source count: 1
    confidence: 0.2
    value label: hereditary neoplastic syndromes
  P279:
    value: Q1117773
    source count: 1
    confidence: 0.2
    value label: inherited tumor
  P279:
    value: Q56013926
    source count: 0
    confidence: 0.0
    value label: hereditary thrombocytopenia with normal platelets
  P486:
    value: C563324
    source count: 1
    confidence: 0.2
  P492:
    value: 601399
    source count: 1
    confidence: 0.2
  P1550:
    value: 71290
    source count: 1
    confidence: 0.2
  P1748:
    value: C162696
    source count: 0
    confidence: 0.0
  P2293:
    value: Q15320451
    source count: 3
    confidence: 0.6
    value label: RUNX1
  P2293:
    value: Q14914527
    source count: 1
    confidence: 0.2
    value label: ETV6
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_71290
    source count: 0
    confidence: 0.0
  P2892:
    value: C1832388
    source count: 1
    confidence: 0.2
  P4229:
    value: D69.4
    source count: 1
    confidence: 0.2
  P5270:
    value: MONDO_0011071
    source count: 0
    confidence: 0.0
citations:
  source: ClinGen
  stated in qid: Q64403342
  retrieved: 2020-12-09
citations:
  source: ClinGen
  stated in qid: Q64403342
  retrieved: 2022-01-25
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-07-28
citations:
  source: Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
  stated in qid: Q33330210
citations:
  source: Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
  stated in qid: Q24314163
meta:
  wikidata id: Q55783136
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/hereditary-thrombocytopenia-with-normal-platelets-hematological-cancer-predisposition-syndrome
  markdown url: https://4ort.xyz/entity/hereditary-thrombocytopenia-with-normal-platelets-hematological-cancer-predisposition-syndrome.md
  facts url summary: https://4ort.xyz/entity/hereditary-thrombocytopenia-with-normal-platelets-hematological-cancer-predisposition-syndrome/facts.json
  facts url standard: https://4ort.xyz/entity/hereditary-thrombocytopenia-with-normal-platelets-hematological-cancer-predisposition-syndrome/facts.json
  facts url full: https://4ort.xyz/entity/hereditary-thrombocytopenia-with-normal-platelets-hematological-cancer-predisposition-syndrome/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-06T08:31:25.187507Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T15:00:37.686400+00:00Z