Thrombomodulin-related bleeding disorder(THPH12)

MedGen UID:: 482606
•Concept ID:: C3280976
•: Disease or Syndrome

Synonym:	Thrombophilia due to thrombomodulin defect
SNOMED CT:	THBD (thrombomodulin) related bleeding disorder (1197595004); Thrombomodulin-related bleeding disorder (1197595004); Thrombomodulin-related coagulopathy (1197595004)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	THBD (20p11.21)

Monarch Initiative:	MONDO:0013775
OMIM®:	614486
Orphanet:	ORPHA436169

Definition

The role of thrombomodulin in thrombosis is controversial. Although there have been several reports of THBD mutations in patients with venous thrombosis, clear functional evidence for the pathogenicity of these mutations is lacking. In a review, Anastasiou et al. (2012) noted that thrombomodulin has a major role in capillary beds and that THBD variation may not be associated with large vessel thrombosis. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis. However, variation in the THBD gene may be associated with increased risk for arterial thrombosis and myocardial infarction. This association may be attributed to the fact that thrombomodulin can modulate inflammatory processes, complement activity, and fibrinolysis. [from OMIM]

Clinical features

From HPO

Pulmonary embolism

MedGen UID:: 11027
•Concept ID:: C0034065
•: Pathologic Function

An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.

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Deep venous thrombosis

MedGen UID:: 57448
•Concept ID:: C0149871
•: Disease or Syndrome

Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.

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Thrombophilia