Familial thrombomodulin anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: THPH12
Number of Symptoms 2
OrphanetNr: 3324
OMIM Id: 614486
ICD-10: D68.8
UMLs: C2931365
MeSH: C536900
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare thrombotic disorder due to a constitutional coagulation factors defect
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002625) Deep venous thrombosis 10 / 7739
2
(HPO:0100724) Hypercoagulability 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Ohlin and Marlar (1995) reported a 45-year-old Hispanic man with thrombophilia who developed a pulmonary embolism. He had decreased soluble THBD fragments in serum compared to controls. His mother had died suddenly, apparently of pulmonary embolus.
Molecular genetics OMIM - Venous Thrombosis

In a 45-year-old Hispanic man with thrombophilia and pulmonary embolism, Ohlin and Marlar (1995) identified a heterozygous mutation in the THBD gene (D468Y; 188040.0001). His 23-year-old son, who had no history of thrombosis, ...