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Macrothrombocytopenia, isolated, 2, autosomal dominant(MACTHC2)

MedGen UID:: 1802965
•Concept ID:: C5676968
•: Disease or Syndrome

Synonym:	MACTHC2

Gene (location): Gene(s) directly associated with this condition or phenotype.	TUBA8 (22q11.21)

Monarch Initiative:	MONDO:0030827
OMIM®:	619840

Definition

Autosomal dominant isolated macrothrombocytopenia-2 (MACTHC2) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes; macrothrombocytopenia is usually an incidental laboratory finding (Kimmerlin et al., 2022) For a discussion of genetic heterogeneity of MACTHC, see MACTHC1 (613112). [from OMIM]

Clinical features

From HPO

Macrothrombocytopenia

MedGen UID:: 414334
•Concept ID:: C2751260
•: Disease or Syndrome

See: Feature record | Search on this feature

Abnormality of blood and blood-forming tissues
- Macrothrombocytopenia

Recent clinical studies

Diagnosis

Differential proteomics study of platelets in asymptomatic constitutional macrothrombocytopenia: altered levels of cytoskeletal proteins.

Karmakar S, Saha S, Banerjee D, Chakrabarti A
Eur J Haematol 2015 Jan;94(1):43-50. Epub 2014 Jul 16 doi: 10.1111/ejh.12398. PMID: 24934967

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Prognosis

Identification of novel TUBB1 variants in patients with macrothrombocytopenia.

Çalışkaner ZO, Abdul Waheed A, Tuzlakoğlu Öztürk M, Oymak Y, Tazebay UH, Akar N, Kandilci A, Torun Özkan D
Turk J Med Sci 2021 Apr 30;51(2):490-500. doi: 10.3906/sag-2003-259. PMID: 32892537 Free PMC Article

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