Congenital factor X deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: F10 deficiency
Congenital Stuart factor deficiency
stuart-prower factor deficiency
Number of Symptoms 14
OrphanetNr: 328
OMIM Id: 227600
ICD-10: D68.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 - PMID: 19598069 [IBIS]
Inheritance: Autosomal recessive
- PMID: 19598069 [IBIS]
Age of onset: All ages
- PMID: 19598069 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital vitamin K-dependent coagulation factors deficiency
 -Rare genetic disease
 -Rare hematologic disease

Comment:

The bleeding tendency may appear at any age, although the more severely affected patients (FX activity <1%) present early in life with, for instance, umbilical-stump or central nervous system (CNS) bleeding (PMID:19598069).

Symptom Information: Sort by abundance 

1
(HPO:0000790) Hematuria 19598069 IBIS 106 / 7739
2
(HPO:0002239) Gastrointestinal hemorrhage 19598069 IBIS 97 / 7739
3
(HPO:0007420) Spontaneous hematomas 19598069 IBIS 9 / 7739
4
(HPO:0000132) Menorrhagia 19598069 IBIS 40 / 7739
5
(HPO:0000421) Epistaxis 19598069 IBIS 85 / 7739
6
(HPO:0000225) Gingival bleeding 28 / 7739
7
(HPO:0005261) Joint hemorrhage 19598069 IBIS 17 / 7739
8
(HPO:0002170) Intracranial hemorrhage 19598069 IBIS 40 / 7739
9
(HPO:0008151) Prolonged prothrombin time 19598069 IBIS 13 / 7739
10
(HPO:0003645) Prolonged partial thromboplastin time 19598069 IBIS 20 / 7739
11
(HPO:0008321) Reduced factor X activity Very frequent [IBIS] 19598069 IBIS 4 / 7739
12
(HPO:0001892) Abnormal bleeding 19598069 IBIS 85 / 7739
13
(HPO:0012233) Intramuscular hematoma 3 / 7739
14
(OMIM) Umbilical cord bleeding 19598069 IBIS 2 / 7739

Associated genes:

F10;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Factor X deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. The disorder can be caused either by reduced levels of ...
Clinical Description OMIM Girolami et al. (1970) described a congenital haemorrhagic condition due to the presence of an abnormal factor X in a large kindred from Friuli, a remote valley in northeastern Italy. Girolami et al. (1971) reported another family from ...
Molecular genetics OMIM In a patient with a bleeding disorder due to factor X deficiency, Reddy et al. (1989) identified compound heterozygosity for 2 mutations in the F10 gene (613872.0001 and 613872.0002). The patient had prolonged bleeding after surgery, and laboratory ...
Population genetics OMIM Factor X deficiency has an estimated prevalence of 1 in 500,000 individuals (summary by Millar et al., 2000).