raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:599519

Factor V short isoforms-related bleeding disorder

Synonyms: FV short isoforms-related bleeding disorder

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant
Age of onset
No data available
Status
active

A rare genetic, hemorrhagic disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, bleeding gums and excessive bleeding after minor trauma or surgical procedures. Severity of bleeding is variable and blood transfusion may be required. Affected females may have menorrhagia. Patients present with a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, normal protein&nbsp;C activity and elevated tissue factor pathway inhibitor levels. It is caused by different mutations in factor&nbsp;V (<i>FV</i>) gene leading to short isoforms of the FV protein. Point mutation at A2440G is known as East Texas beeding disorder, point mutation at C2588G is known as Amsterdam bleeding disorder and a large deletion in F5 exon&nbsp;13 is known as Atlanta bleeding disorder.

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Names in Orphadata languages

10 of 12 languages
LangNameSynonyms
enFactor V short isoforms-related bleeding disorderFV short isoforms-related bleeding disorder
frMaladie hémorragique liée aux formes courtes du facteur VMaladie hémorragique liée aux formes courtes du FV
deGerinnungsstörung, Faktor V kurze-Isoformen-abhängigeFV kurze-Isoformen-abhängige Blutungskrankheit
esTrastorno de sangrado asociado a isoformas cortas del factor V
itMalattia emorragica correlata alle isoforme corte del fattore VMalattia emorragica correlata alle isoforme corte del FV
nlStollingsstoornis gerelateerd aan korte isovormen van factor VStollingsstoornis gerelateerd aan korte isovormen van FV
ptDoença hemorrágica factor V isoformas curtas-relacionadaDoença hemorrágica FV isoformas curtas-relacionada
plKrwawienie związane z krótkimi izoformami czynnika V= en
csKrvácivá porucha související s krátkými izoformami faktoru V= en
ukПорушення згортання крові, повязане з короткими ізоформами фактора VПорушення кровотечі, повязане з короткими ізоформами FV

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM605913BTNTvalidated
ICD-10D68.4NTBTattributedvalidated
ICD-113B14.ZNTBTattributedvalidated
MONDO0035742Evalidated
UMLSC5680279Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

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Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (3):

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Genes

0 direct · 3 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
F5ORPHA:391320East Texas bleeding disorderDisease-causing germline mutation(s) (gain of function) inAssessedHGNC:3542ENSG000001987346123091q24.2coagulation factor V23979162[PMID]
F5ORPHA:599579Factor V Amsterdam bleeding disorderDisease-causing germline mutation(s) (gain of function) inAssessedHGNC:3542ENSG000001987346123091q24.2coagulation factor V25634741[PMID]
F5ORPHA:600194Factor V Atlanta bleeding disorderDisease-causing germline mutation(s) inAssessedHGNC:3542ENSG000001987346123091q24.2coagulation factor V33773040[PMID]
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Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families3 casesWorldwideCase(s)Validated25634741[PMID]_33773040[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidated25634741[PMID]_33773040[PMID]_ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

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HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

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Sources for this card