MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613112
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(OMIM) Megakaryocytes show large and irregular bleb protrusions 1 / 7739
2
(OMIM) Decreased number of platelets 1 / 7739
3
(OMIM) Macrothrombocytopenia 2 / 7739
4
(MedDRA:10062085) Platelet aggregation normal 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Large, spherical platelets 1 / 7739
7
(OMIM) Decreased beta-tubulin in platelets 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kunishima et al. (2009) reported a Japanese boy who was incidentally found to have thrombocytopenia (40-60 x 10(9) platelets). Peripheral blood smears showed prominent giant platelets. Platelet aggregation function was normal, and bone marrow biopsy showed normal megakaryocyte ...
Molecular genetics OMIM Freson et al. (2005) identified a heterozygous gln43-to-pro (Q43P) SNP in the TUBB1 gene in 8 (24.2%) of 33 unrelated individuals with macrothrombocytopenia. However, since inheritance in these 8 families was more consistent with autosomal recessive inheritance and ...