BLEEDING DISORDER, PLATELET-TYPE, 14

General Information (adopted from Orphanet):

Synonyms, Signs: BDPLT14
THROMBOXANE SYNTHETASE DEFICIENCY
Number of Symptoms 9
OrphanetNr:
OMIM Id: 614158
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
(HPO:0000421) Epistaxis 85 / 7739
2
(HPO:0000978) Bruising susceptibility 123 / 7739
3
(HPO:0003010) Prolonged bleeding time 88 / 7739
4
(HPO:0001892) Abnormal bleeding 85 / 7739
5
(HPO:0001928) Abnormality of coagulation 44 / 7739
6
(OMIM) Defective platelet aggregation in response to arachidonic acid 2 / 7739
7
(OMIM) Decreased serum thromboxane B2 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(MedDRA:10035530) Platelet count normal 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Metsel et al. (1980) found biochemical evidence of defective thromboxane A2 synthetase (TBXAS1; 274180) in a 3-year-old girl with massive gastrointestinal bleeding. Petechiae and bruises had been noted soon after birth, and nosebleeds and hematuria subsequently. Platelet counts ...