ORPHA:328

Congenital factor X deficiency

Synonyms: Congenital Stuart factor deficiency · Stuart-Prower factor deficiency

A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenital factor X deficiency	Congenital Stuart factor deficiency · Stuart-Prower factor deficiency
fr	Déficit congénital en facteur X	Déficit congénital en facteur Stuart · Déficit en facteur Stuart-Prower
de	Faktor X-Mangel, kongenitaler	Stuart-Faktor-Mangel, kongenitaler · Stuart-Prower-Faktor-Mangel, kongenitaler
es	Deficiencia congénita del factor X	Deficiencia congénita del factor Stuart
it	Deficit congenito del fattore X	Deficit congenito del fattore di Stuart · Deficit del fattore di Stuart-Prower
nl	Congenitale factor X-deficiëntie	Congenitale deficiëntie van Stuart-factor · Deficiëntie van Stuart-Prower-factor
pt	Deficiência de fator X congénita	Deficiência de fator de Stuart congénita
pl	Wrodzony Niedobór czynnika X	Wrodzony Niedobór czynnika Stuarta · Wrodzony Niedobór czynnika Stuarta i Prowera
cs	Vrozený nedostatek faktoru X	Vrozený nedostatek Stuartova faktoru · Deficit Stuartova-Prowerové faktoru · Deficit Stuart-Prowerové faktoru
uk	Вроджений дефіцит фактора Х	Вроджена недостатність фактора Стюарта · Дефіцит фактора Стюарта-Прауера
zh	先天性10因子缺乏	先天性Stuart因子缺乏
tr	Doğumsal faktör X eksikliği	Stuart-Prower faktör eksikliği · Doğumsal Stuart faktör eksikliği

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	227600	E		validated
ICD-10	D68.2	NTBT	attributed	validated
ICD-11	3B14.1	E	specific	validated
MONDO	0009212	E		validated
MeSH	D005171	E		validated
UMLS	C0015519	E		validated
GARD	6404	E		validated
MedDRA	10052474	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
F10	Disease-causing germline mutation(s) in	Assessed	HGNC:3528	ENSG00000126218	613872	13q34	coagulation factor X	15892863[PMID]_26222694[PMID]_26309706[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	—	Europe	Class only	Validated	European Medicines Agency 2008[OTHER]

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

19 annotations · validated 2019-05-16

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0008151	Prolonged prothrombin time
HP:0008321	Reduced factor X activity	Diagnostic criterion
Very frequent (99-80%)
HP:0006298	Prolonged bleeding after dental extraction
HP:0004846	Prolonged bleeding after surgery
Frequent (79-30%)
HP:0000421	Epistaxis
HP:0000225	Gingival bleeding
Occasional (29-5%)
HP:0011884	Abnormal umbilical stump bleeding
HP:0025328	Antepartum hemorrhage
HP:0000978	Bruising susceptibility
HP:0002239	Gastrointestinal hemorrhage
HP:0000790	Hematuria
HP:0012233	Intramuscular hematoma
HP:0005261	Joint hemorrhage
HP:0000132	Menorrhagia
HP:0030140	Oral cavity bleeding
HP:0011891	Post-partum hemorrhage
HP:0007420	Spontaneous hematomas
Very rare (<4-1%)
HP:0011854	Hemoperitoneum
HP:0002138	Subarachnoid hemorrhage

Annotation source: 23560890[PMID]_9695984[PMID]_27124643{PMID]_30901144[PMID]