Autosomal recessive macrothrombocytopenia
| Classification according to ICD-10 | |
|---|---|
| D69.4 | Other primary thrombocytopenia |
| D69.1 | Qualitative platelet defects |
| ICD-10 online (WHO version 2019) | |
The autosomal recessive macrothrombocytopenia is the group of Makrothrombozytopenien associated congenital form of thrombocytopenia .
Synonyms are: English Bleeding Disorder, Platelet-Type, 19; BDPLT19
The first description is from 2014 by the French doctors Vladimir T. Manchev and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000. Inheritance is autosomal - recessive .
root cause
The disease are mutations in PRKACG - gene on chromosome 9 locus q21.11 basis.
Clinical manifestations
Clinical criteria are:
- Onset of illness in early childhood
- Bleeding tendency due to thrombocytopenia , symptoms see p. there.
literature
- Haematologica. Vol. 87, No. 5, May 2002, p. ELT27, PMID 12010687 .
Individual evidence
- ↑ a b c Macrothrombocytopenia, severe, autosomal recessive. In: Orphanet (Rare Disease Database).
- ↑ VT Manchev, M. Hilpert, E. Berrou, Z. Elaib, A. Aouba, S. Boukour, S. Souquere, G. Pierron, P. Rameau, R. Andrews, F. Lanza, R. Bobe, W. Vainchenker, JP Rosa, M. Bryckaert, N. Debili, R. Favier, H. Raslova: A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene. In: Blood. Volume 124, number 16, October 2014, pp. 2554-2563, doi : 10.1182 / blood-2014-01-551820 , PMID 25061177 , PMC 4199957 (free full text).
- ^ Bleeding disorder, platelet-type, 19. In: Online Mendelian Inheritance in Man . (English)
