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Paris-Trousseau thrombocytopenia

Disease definition

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.

ORPHA:851

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: D69.4
  • ICD-11: 3B64.01
  • OMIM: 188025  617443
  • UMLS: C1956093
  • MeSH: -
  • GARD: 4224
  • MedDRA: -

  A summary on this disease is available in Deutsch (2004) Español (2014) Nederlands (2014) Français (2005) Italiano (2005)

Detailed information

Guidelines

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.