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Macrothrombocytopenia, isolated, 1, autosomal dominant(MACTHC1)

MedGen UID:
1811721
•Concept ID:
C5676892
•
Disease or Syndrome
Synonyms: Autosomal dominant macrothrombocytopenia TUBB1-related; MACTHC1
 
Gene (location): TUBB1 (20q13.32)
 
Monarch Initiative: MONDO:0800047
OMIM®: 613112

Definition

Autosomal dominant isolated macrothrombocytopenia-1 (MACTHC1) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes and platelet function is normal; macrothrombocytopenia is usually an incidental laboratory finding (Kunishima et al., 2009). Genetic Heterogeneity of Isolated Macrothrombocytopenia See also MACTHC2 (619840), caused by mutation in the TUBA8 gene (605742) on chromosome 22q11. [from OMIM]

Clinical features

From HPO
Impaired platelet aggregation
MedGen UID:
383786
•Concept ID:
C1855853
•
Finding
An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
See: Feature record | Search on this feature
Macrothrombocytopenia
MedGen UID:
414334
•Concept ID:
C2751260
•
Disease or Syndrome
See: Feature record | Search on this feature

Recent clinical studies

Etiology

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Guéguen P, Rouault K, Chen JM, Raguénès O, Fichou Y, Hardy E, Gobin E, Pan-Petesch B, Kerbiriou M, Trouvé P, Marcorelles P, Abgrall JF, Le Maréchal C, Férec C
PLoS One 2013;8(9):e74728. Epub 2013 Sep 17 doi: 10.1371/journal.pone.0074728. PMID: 24069336Free PMC Article
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, Inoue C, Kamiya T, Saito H
Lab Invest 2003 Jan;83(1):115-22. doi: 10.1097/01.lab.0000050960.48774.17. PMID: 12533692

Diagnosis

The curious incident of a cavum velum interpositum cyst in twins of a mother carrying May-Hegglin anomaly: a case report and short literature review.
Giordano G, Tiscia GL, Favuzzi G, Chinni E, Intrieri M, Mastroianno M, Di Meglio L, Margaglione M, Grandone E
BMC Pregnancy Childbirth 2020 Dec 11;20(1):772. doi: 10.1186/s12884-020-03437-2. PMID: 33308197Free PMC Article
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
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Guéguen P, Rouault K, Chen JM, Raguénès O, Fichou Y, Hardy E, Gobin E, Pan-Petesch B, Kerbiriou M, Trouvé P, Marcorelles P, Abgrall JF, Le Maréchal C, Férec C
PLoS One 2013;8(9):e74728. Epub 2013 Sep 17 doi: 10.1371/journal.pone.0074728. PMID: 24069336Free PMC Article

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: 32892537Free PMC Article

Clinical prediction guides

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: 32892537Free PMC Article
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
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Guéguen P, Rouault K, Chen JM, Raguénès O, Fichou Y, Hardy E, Gobin E, Pan-Petesch B, Kerbiriou M, Trouvé P, Marcorelles P, Abgrall JF, Le Maréchal C, Férec C
PLoS One 2013;8(9):e74728. Epub 2013 Sep 17 doi: 10.1371/journal.pone.0074728. PMID: 24069336Free PMC Article
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, Inoue C, Kamiya T, Saito H
Lab Invest 2003 Jan;83(1):115-22. doi: 10.1097/01.lab.0000050960.48774.17. PMID: 12533692
Chronic isolated macrothrombocytopenia with autosomal dominant transmission: a morphological and qualitative platelet disorder.
Fabris F, Cordiano I, Salvan F, Ramon R, Valente M, Luzzatto G, Girolami A
Eur J Haematol 1997 Jan;58(1):40-5. doi: 10.1111/j.1600-0609.1997.tb01408.x. PMID: 9020372

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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