Autosomal dominant macrothrombocytopenia

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Classification according to ICD-10
D69.4 Other primary thrombocytopenia
D69.1 Qualitative platelet defects
ICD-10 online (WHO version 2019)

The autosomal dominant macrothrombocytopenia is the group of Makrothrombozytopenien associated congenital form of thrombocytopenia with occurrence of giant platelets.

Synonyms are: Glanzmann Thrombastenia, Autosomal Dominant; Thrombastenia Of Glanzmann And Naegeli, Autosomal Dominant; Bleeding disorder, platelet-type, 16, autosomal dominant

The disease can be viewed as an autosomal dominant inherited form of Glanzmann's thrombasthenia .

distribution

The frequency is given as less than 1 in 1,000,000, so far a family has been described. The inheritance is autosomal dominant.

root cause

The disease are mutations in ITGB3 - gene on chromosome 17 locus q21.32 based encoding beta-3 integrin.

Causal mutations in the ITGB2B gene on the same chromosome locus q21.31, in the TUBB1 gene on chromosome 20 locus q13.32 and in the ACTN1 gene on chromosome 14 q24.1 have also been described.

Differential diagnosis

The autosomal recessive macrothrombocytopenia must be distinguished .

literature

  • P. Guéguen, K. Rouault, JM Chen, O. Raguénès, Y. Fichou, E. Hardy, E. Gobin, B. Pan-Petesch, M. Kerbiriou, P. Trouvé, P. Marcorelles, JF Abgrall, C. Le Maréchal, C. Férec: A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. In: PLOS ONE . Vol. 8, No. 9, 2013, p. E74728, doi: 10.1371 / journal.pone.0074728 , PMID 24069336 , PMC 3775762 (free full text).
  • F. Fabris, F. Fagioli, G. Basso, A. Girolami: Autosomal dominant macrothrombocytopenia with ineffective thrombopoiesis. In: Haematologica. Vol. 87, No. 5, May 2002, p. ELT27, PMID 12010687 .

Individual evidence

  1. ↑ a b Macrothrombocytopenia, autosomal dominant. In: Orphanet (Rare Disease Database).
  2. ↑ Bleeding disorder, platelet-type, 16, autosomal dominant.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ Macrothrombocytopenia, autosomal dominant, TUBB1-related.  In: Online Mendelian Inheritance in Man . (English)
  4. ^ Bleeding disorder, platelet-type, 15.  In: Online Mendelian Inheritance in Man . (English)

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