Combined deficiency of factor V and factor VIII

MedGen UID:: 384006
•Concept ID:: C1856883
•: Disease or Syndrome

Synonyms:	Combined Deficiency of Factor V and Factor VIII; F5F8D; Factor V And Factor VIII, Combined Deficiency Of
SNOMED CT:	Combined deficiency of factor V and factor VIII (715559004); Factor V and factor VIII combined deficiency (715559004); Familial multiple coagulation factor deficiency (715559004)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	MCFD2, LMAN1

Monarch Initiative:	MONDO:0018175
Orphanet:	ORPHA35909

Definition

An inherited bleeding disorder caused by the reduction in activity and antigen levels of both factor V and factor VIII with manifestation of mild-to-moderate bleeding symptoms. Caused by mutations either in the LMAN1 gene (chromosome 18; q21) or in the MCFD2 gene (chromosome 2). Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCombined deficiency of factor V and factor VIII

Rare hemorrhagic disorder due to a constitutional coagulation factors defect
- Combined deficiency of factor V and factor VIII

Professional guidelines

PubMed

Genotype and phenotype report on patients with combined deficiency of factor V and factor VIII in Iran.

Karimi M, Cairo A, Safarpour MM, Haghpanah S, Ekramzadeh M, Afrasiabi A, Shahriari M, Menegatti M
Blood Coagul Fibrinolysis 2014 Jun;25(4):360-3. doi: 10.1097/MBC.0000000000000046. PMID: 24389588

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D
Blood 2008 Jun 15;111(12):5592-600. Epub 2008 Apr 7 doi: 10.1182/blood-2007-10-113951. PMID: 18391077 Free PMC Article

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Recent clinical studies

Prognosis

A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia.

Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U
Blood Coagul Fibrinolysis 2004 Jan;15(1):99-102. doi: 10.1097/00001721-200401000-00016. PMID: 15166951

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Clinical prediction guides

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia.

Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U
Blood Coagul Fibrinolysis 2004 Jan;15(1):99-102. doi: 10.1097/00001721-200401000-00016. PMID: 15166951

Normal titer of functional and immunoreactive protein-C inhibitor in plasma of patients with congenital combined deficiency of factor V and factor VIII.

Suzuki K, Nishioka J, Hashimoto S, Kamiya T, Saito H
Blood 1983 Dec;62(6):1266-70. PMID: 6315113

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Combined deficiency of factor V and factor VIII

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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