Macrothrombocytopenia
| Classification according to ICD-10 | |
|---|---|
| D69.4 | Other primary thrombocytopenia |
| D69.1 | Qualitative platelet defects |
| ICD-10 online (WHO version 2019) | |
The macrothrombocytopenia is a congenital form of thrombocytopenia with occurrence of giant platelets. It is a group of diseases with the common feature of a reduced number and, at the same time, an abnormal size of the blood platelets and the resulting tendency to bleed .
Synonyms are congenital macrothrombocytopenia; CMTC; hereditary macrothrombocytopenia; hereditary giant platelet syndrome .
Classification
The disease group includes:
-
MYH9 -associated diseases
- Epstein syndrome , synonyms: Alport syndrome with macrothrombocytopenia; MYH9-RD; MYH9-related disorders; MYH9-related syndromes; Thrombocytopenia due to MYH9 gene mutation
- Fechtner syndrome , synonym: Alport syndrome with leukocyte inclusions and macrothrombocytopenia
- Sebastian syndrome , synonym: Macrothrombocytopenia with leukocytic inclusions
- May-Hegglin anomaly , abbreviation MHA, synonym: May-Hegglin syndrome
- Bernard-Soulier syndrome , synonyms: giant platelet syndrome; hemorrhagic platelet dystrophy
- Autosomal dominant macrothrombocytopenia
- Macrothrombocytopenia with mitral valve regurgitation
- Autosomal recessive macrothrombocytopenia
- Thrombocytopenia with congenital dyserythropoietic anemia
- Sitosterolemia , synonyms: phytosterolemia; Xanthomatosis with sitosterolaemia, formerly Mediterranean macrothrombocytopenia
In animals
The disease also occurs in dogs due to a mutation in TUBB1 - Gen ago.
Individual evidence
- ↑ Giant platelet syndrome, hereditary. In: Orphanet (Rare Disease Database).
- ^ MYH9-associated diseases. In: Orphanet (Rare Disease Database).
- ↑ Epstein Syndrome. In: Orphanet (Rare Disease Database).
- ^ Fechtner syndrome. In: Orphanet (Rare Disease Database).
- ↑ Sebastian Syndrome. In: Orphanet (Rare Disease Database).
- ↑ May-Hegglin thrombocytopenia. In: Orphanet (Rare Disease Database).
- ↑ Bernard Soulier Syndrome. In: Orphanet (Rare Disease Database).
- ↑ Macrothrombocytopenia, autosomal dominant. In: Orphanet (Rare Disease Database).
- ↑ Macrothrombocytopenia with mitral valve regurgitation. In: Orphanet (Rare Disease Database).
- ↑ Macrothrombocytopenia, severe, autosomal recessive. In: Orphanet (Rare Disease Database).
- ↑ Thrombocytopenia with congenital dyserythropoietic anemia. In: Orphanet (Rare Disease Database).
- ↑ Macrothrombocytopenia, Mediterranean. In: Orphanet (Rare Disease Database).
- ↑ Feragen
