THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT

General Information (adopted from Orphanet):

Synonyms, Signs: THPH8 DEEP VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED
Number of Symptoms 4
OrphanetNr:
OMIM Id: 300807
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0100724) Hypercoagulability 15 / 7739
2
(HPO:0002625) Deep venous thrombosis 10 / 7739
3
(HPO:0010989) Abnormality of the intrinsic pathway 1 / 7739
4
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Simioni et al. (2009) reported a 21-year-old Italian man who developed a deep venous thrombosis in the right leg after mild muscular stretching. Treatment with heparin and warfarin resulted in resolution and no further thrombosis.

In ...

Molecular genetics OMIM In an Italian man with deep venous thrombosis of the femoral-popliteal veins, Simioni et al. (2009) identified a hemizygous mutation in the F9 gene (R338L; 300746.0112). Coagulation studies showed that he had normal levels of F9 antigen, but ...