Congenital factor V deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: LABILE FACTOR DEFICIENCY
OWREN PARAHEMOPHILIA
parahemophilia
Proaccelerin deficiency
Owren disease
Number of Symptoms 12
OrphanetNr: 326
OMIM Id: 227400
ICD-10: D68.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000132) Menorrhagia 40 / 7739
2
 (HPO:0000421) Epistaxis 85 / 7739
3
 (HPO:0000978) Bruising susceptibility 123 / 7739
4
 (HPO:0003010) Prolonged bleeding time 88 / 7739
5
 (HPO:0003225) Reduced factor V activity 5 / 7739
6
 (HPO:0008151) Prolonged prothrombin time 13 / 7739
7
 (HPO:0001892) Abnormal bleeding 85 / 7739
8
 (HPO:0005542) Prolonged whole-blood clotting time 5 / 7739
9
 (HPO:0003645) Prolonged partial thromboplastin time 20 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (OMIM) Bleeding episodes 2 / 7739
12
 (OMIM) Prolonged bleeding 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Owren (1947) described a haemorrhagic diathesis, which he referred to as 'parahemophilia,' due to the absence of a previously unknown clotting factor.

Kingsley (1954) and Seibert et al. (1958) reported familial factor V deficiency in a ...
Molecular genetics OMIM In a patient with factor V deficiency, Guasch et al. (1998) identified a homozygous mutation in the F5 gene (612309.0004).

In a Korean woman with factor V deficiency, van Wijk et al. (2001) identified compound heterozygosity ...
Population genetics OMIM Zehnder et al. (1999) pointed out that homozygous factor V deficiency is rare, approximately 1 in a million. On this basis, heterozygotes should have a frequency of 1 in 1,000. Heterozygous deficiency states are generally unrecognized because of ...