THROMBOPHILIA DUE TO THROMBIN DEFECT

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOPHILIA DUE TO FACTOR 2 DEFECT
VENOUS THROMBOSIS
VENOUS THROMBOEMBOLISM THROMBOSIS, PROTECTION AGAINST, INCLUDED
THPH1
Number of Symptoms 7
OrphanetNr:
OMIM Id: 188050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Childhood onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005305) Cerebral venous thrombosis 7 / 7739
2
(HPO:0002625) Deep venous thrombosis 10 / 7739
3
(HPO:0001907) Thromboembolism 15 / 7739
4
(HPO:0004419) Recurrent thrombophlebitis 4 / 7739
5
(HPO:0002204) Pulmonary embolism 26 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(HPO:0011463) Childhood onset 65 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot ...
Clinical Description OMIM Miyawaki et al. (2012) reported a Japanese family, originating from Yukuhashi in the northern part of the Kyushu islands, with recurrent thrombophilia. The family had originally been reported by Sakai et al. (2001). There were at least 9 ...
Molecular genetics OMIM Poort et al. (1996) found that a common 20210G-A transition in the 3-prime untranslated region of the prothrombin gene (176930.0009) was associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis. The SNP was found ...
Diagnosis GeneReviews No clinical features are specific for prothrombin-related thrombophilia. The diagnosis of prothrombin-related thrombophilia requires DNA analysis of F2, the gene encoding prothrombin, to identify the common mutation 20210G>A (commonly referred to incorrectly as G20210A; the official designation by standard nomenclature rules is c.*97G>A). ...
Clinical Description GeneReviews The clinical expression of prothrombin-related thrombophilia is variable. Many individuals who are heterozygous or homozygous for the F2 20210G>A allele never develop thrombosis. While most individuals with prothrombin-related thrombophilia do not experience a first thrombotic event until adulthood, some have recurrent VTE before age 30 years. ...
Genotype-Phenotype Correlations GeneReviews Homozygotes for the 20210G>A allele have a greater risk for thrombosis than do heterozygotes for the 20210G>A allele, although the magnitude of risk is not well defined. ...
Differential Diagnosis GeneReviews The differential diagnosis of venous thromboembolism (VTE) includes several other inherited and acquired thrombophilic disorders. Because these disorders are not clinically distinguishable, laboratory testing is required for diagnosis in each case. (See also Evaluations Following Initial Diagnosis.)...
Management GeneReviews To evaluate the risk for thrombosis in an individual diagnosed with prothrombin-related thrombophilia, the following evaluations are recommended: ...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....