FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

General Information (adopted from Orphanet):

Synonyms, Signs: F5F8D2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 613625
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000132) Menorrhagia 40 / 7739
2
(HPO:0000421) Epistaxis 85 / 7739
3
(HPO:0001934) Persistent bleeding after trauma 8 / 7739
4
(HPO:0003125) Reduced factor VIII activity 13 / 7739
5
(HPO:0003225) Reduced factor V activity 5 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Combined deficiency of factor V (612309) and factor VIII (300841) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are ...
Clinical Description OMIM Oeri et al. (1954) presented relatively convincing laboratory data for the existence of a combined deficiency of factors V and VIII. Affected patients demonstrated a moderate bleeding tendency in association with plasma levels of FV and FVIII between ...
Genotype-Phenotype Correlations OMIM By reviewing available published data on 46 patients with MCFD2 mutations and 96 patients with LMAN1 mutations, Zhang et al. (2008) found that patients with MCFD2 mutations had lower levels of both FV and FVIII compared to those ...
Molecular genetics OMIM Zhang et al. (2003) found that inactivating mutations in the MCFD2 gene (607788.0001-607788.0007) cause F5F8D with a phenotype indistinguishable from that caused by mutations in the LMAN1 gene. MCFD2 is localized to the ER-Golgi intermediate compartment (ERGIC) through ...