Congenital factor VII deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: F7 DEFICIENCY
hypoproconvertinemia
Congenital proconvertin deficiency
Number of Symptoms 9
OrphanetNr: 327
OMIM Id: 227500
ICD-10: D68.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.33 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital vitamin K-dependent coagulation factors deficiency
 -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:0005261) Joint hemorrhage 17 / 7739
4
 (HPO:0002170) Intracranial hemorrhage 40 / 7739
5
 (HPO:0008169) Reduced factor VII activity 4 / 7739
6
 (HPO:0001892) Abnormal bleeding 85 / 7739
7
 (HPO:0012233) Intramuscular hematoma 3 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (HPO:0003828) Variable expressivity 130 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by Millar et al., 2000).

Perry (2002) provided a comprehensive review of factor VII deficiency with a description of F7 polymorphisms, gene structure, ...
Diagnosis OMIM - Prenatal Diagnosis

Giansily-Blaizot et al. (2001) achieved prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis. The authors stated that the propositus, a 2-year-old girl, presented with soft tissue hematoma during ...
Clinical Description OMIM Arbini et al. (1996) reported a 36-year-old Italian woman with severe factor VII deficiency. She had recurrent epistaxis, easy bruisability, menorrhagia, hemarthrosis of the right knee, and major bleeding after dental extraction. Laboratory studies showed less than 1% ...
Population genetics OMIM Factor VII deficiency has an estimated prevalence of 1 in 500,000 individuals (summary by Millar et al., 2000).