Bleeding diathesis due to thromboxane synthesis deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: BDPLT13
BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR
Number of Symptoms 8
OrphanetNr: 220443
OMIM Id: 614009
ICD-10: D69.8
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: Rare hemorrhagic disorder due to a constitutional thrombocytopenia
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000421) Epistaxis 85 / 7739
2
(HPO:0000978) Bruising susceptibility 123 / 7739
3
(OMIM) Normal serum thromboxane B2 1 / 7739
4
(OMIM) Defective platelet aggregation in response to arachidonic acid 2 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(MedDRA:10035530) Platelet count normal 9 / 7739
7
(OMIM) Bleeding tendency, mild 1 / 7739
8
(OMIM) Defective platelet calcium mobilization 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Susceptibility to platelet-type bleeding disorder-13 is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a ...
Clinical Description OMIM Weiss and Lages (1977) reported a 10-year-old boy with easy bruising and excessive bleeding after a tooth extraction at age 2 years. Laboratory studies showed normal platelet counts, but defective second phase platelet aggregation in response to epinephrine ...
Molecular genetics OMIM In affected members of 2 unrelated families with a bleeding disorder (Ushikubi et al., 1987 and Fuse et al., 1993), Hirata et al. (1994) identified a heterozygous mutation in the TBXA2 gene (R60L; 188070.0001). The mutant receptor expressed ...