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Thromboxane synthetase deficiency(BDPLT14)

MedGen UID:
98307
Concept ID:
C0398635
Disease or Syndrome
Synonyms: BDPLT14; Bleeding disorder, platelet-type, 14
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Thromboxane synthetase deficiency (234477002)
 
Gene (location): TBXAS1 (7q34)
OMIM®: 614158

Clinical features

Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in thenose.
Prolonged bleeding time
MedGen UID:
56231
Concept ID:
C0151529
Finding
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Abnormal platelet count
MedGen UID:
488925
Concept ID:
C0580317
Finding
Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.

The following clinical feature is unrelated to Thromboxane synthetase deficiency

Recent clinical studies

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