Factor X Deficiency

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor X Deficiency

MalaCards integrated aliases for Factor X Deficiency:

Name: Factor X Deficiency 53 12 72 49 24 71 28 13 51 41 14 69
Stuart-Prower Factor Deficiency 53 49 24 55 71
F10 Deficiency 53 49 24 71
Congenital Stuart Factor Deficiency 24 55
Hereditary Factor X Deficiency Disease 69
Stuart Factor Deficiency, Congenital 49
Factor X Deficiency, Congenital 49
Congenital Factor X Deficiency 55
Disease, Stuart-Prower 12
Factor 10 Deficiency 71
Fa10d 71


Orphanet epidemiological data:

congenital factor x deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;


autosomal recessive

variable severity
incidence of 1 in 500,000 live births
intermediate levels of factor x in mildly symptomatic heterozygotes


factor x deficiency:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


External Ids:

OMIM 53 227600
Disease Ontology 12 DOID:2222
MeSH 41 D005171
SNOMED-CT 64 76642003
Orphanet 55 ORPHA328
UMLS via Orphanet 70 C0015519
ICD10 via Orphanet 33 D68.2
MedGen 39 C0015519

Summaries for Factor X Deficiency

NIH Rare Diseases : 49 Factor X deficiency is a rare condition that affects the blood's ability to clot. The severity of the condition and the associated signs and symptoms can vary significantly from person to person. Common features of factor X deficiency may include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. Affected women may also experience heavy menstrual bleeding and may have an increased risk for first trimester miscarriages. Acquired (non-inherited) factor X deficiency, which is the most common form of the condition, generally occurs sporadically in people with no family history of the condition. Acquired factor X deficiency has a variety of causes including liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and cancers. The inherited form of factor X deficiency (also called congenital factor X deficiency) is caused by changes (mutations) in the F10 gene and is inherited in an autosomal recessive manner. Treatment aims to control bleeding through intravenous (IV) infusions of plasma or concentrates of clotting factors. Last updated: 11/12/2015

MalaCards based summary : Factor X Deficiency, also known as stuart-prower factor deficiency, is related to hemarthrosis and factor vii deficiency, and has symptoms including epistaxis, gingival bleeding and intracranial hemorrhage. An important gene associated with Factor X Deficiency is F10 (Coagulation Factor X), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include liver, lung and skin, and related phenotypes are cardiovascular system and homeostasis/metabolism

OMIM : 53 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 the factor X protein or by synthesis of a dysfunctional factor X protein (summary by Millar et al., 2000). (227600)

UniProtKB/Swiss-Prot : 71 Factor X deficiency: A hemorrhagic disease with variable presentation. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. Some patients do not have clinical bleeding diathesis.

Genetics Home Reference : 24 Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive bleeding following surgery or trauma. Women with factor X deficiency can have heavy or prolonged menstrual bleeding (menorrhagia) or excessive bleeding in childbirth, and may be at increased risk of pregnancy loss (miscarriage). Bleeding into joint spaces (hemarthrosis) occasionally occurs. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.

Wikipedia : 72 Factor X deficiency (X as Roman numeral ten) is a bleeding disorder characterized by a lack in the... more...

Related Diseases for Factor X Deficiency

Diseases related to Factor X Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 hemarthrosis 29.4 F10 F7 F9 VWF
2 factor vii deficiency 29.4 F10 F2 F3 F7 F9
3 disseminated intravascular coagulation 29.2 F2 F3 F5 F9 SERPINC1
4 antiphospholipid syndrome 29.1 F10 F2 F3 F5 SERPINC1
5 hemophilia a 28.8 F10 F3 F5 F7 F9 VWF
6 hemophilia 28.7 F2 F3 F7 F9 TFPI VWF
7 thrombophilia 27.6 F10 F11 F2 F3 F5 F7
8 cerebral falx meningioma 10.5 F2 F3
9 paracetamol poisoning 10.5 F2 F5
10 mesenteric vascular occlusion 10.5 F2 F7
11 femoral neuropathy 10.5 F2 F3
12 livedoid vasculopathy 10.5 F2 F5
13 hantavirus pulmonary syndrome 10.5 F2 F3
14 hemoglobin e disease 10.5 F2 F5
15 cryptogenic cirrhosis 10.4 F2 F5
16 mild hemophilia a 10.4 F10 VWF
17 splenic disease 10.4 F2 F3
18 cardiac tamponade 10.4 F2 F9
19 carotid artery thrombosis 10.4 F10 F3
20 catastrophic antiphospholipid syndrome 10.4 F3 F5
21 porencephaly 10.4 F2 F5
22 amyloidosis 10.4
23 active peptic ulcer disease 10.4 F2 VWF
24 von willebrand disease, type 2 10.4 F7 VWF
25 anterior cranial fossa meningioma 10.4 F2 F3 F7
26 cerebral sinovenous thrombosis 10.4 F2 F3 F5
27 scott syndrome 10.4 F10 F2 F5
28 alcohol-related birth defect 10.3 F11 F2 F3
29 severe hemophilia a 10.3 F2 F3 F5
30 thrombasthenia 10.3 F2 F3 F5
31 lemierre's syndrome 10.3 F11 F3
32 blood protein disease 10.3 F2 SERPINC1
33 intracranial sinus thrombosis 10.3 F3 SERPINC1
34 quebec platelet disorder 10.3 F10 F5
35 alpha-2-plasmin inhibitor deficiency 10.3 F2 SERPINC1
36 von willebrand disease, type 1 10.3 F2 F3 VWF
37 sticky platelet syndrome 10.3 F5 SERPINC1
38 factor xiii deficiency 10.3 F3 F5
39 anterior spinal artery syndrome 10.3 F2 SERPINC1
40 subendocardial myocardial infarction 10.2 F2 SERPINC1
41 acquired von willebrand syndrome 10.2 F11 F9 VWF
42 heparin-induced thrombocytopenia 10.2 F10 F3 SERPINC1
43 intestinal impaction 10.2 F2 F3 SERPINC1
44 fournier gangrene 10.2 F2 F3 SERPINC1
45 giant hemangioma 10.2 F2 F3 SERPINC1
46 blue toe syndrome 10.2 F2 F3 SERPINC1
47 intracranial embolism 10.2 F2 F3 SERPINC1
48 marantic endocarditis 10.2 F2 F3 SERPINC1
49 purpura fulminans 10.2 F2 F3 SERPINC1
50 esophageal varix 10.2 F2 SERPINC1

Graphical network of the top 20 diseases related to Factor X Deficiency:

Diseases related to Factor X Deficiency

Symptoms & Phenotypes for Factor X Deficiency

Symptoms via clinical synopsis from OMIM:

Head And Neck Nose:

Genitourinary Internal Genitalia Female:


Head And Neck Mouth:
bleeding gums

Neurologic Central Nervous System:
intracranial hemorrhage

bleeding diathesis

Muscle Soft Tissue:
intramuscular hematomas
umbilical cord bleeding

Laboratory Abnormalities:
factor x deficiency
prolonged prothrombin and partial thromboplastin times
russell's viper venom assay may be prolonged or normal, depending on the genetic defect

Clinical features from OMIM:


Human phenotypes related to Factor X Deficiency:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421
2 gingival bleeding 31 HP:0000225
3 intracranial hemorrhage 31 HP:0002170
4 menorrhagia 31 HP:0000132
5 prolonged partial thromboplastin time 31 HP:0003645
6 prolonged prothrombin time 31 HP:0008151
7 joint hemorrhage 31 HP:0005261
8 intramuscular hematoma 31 HP:0012233
9 reduced factor x activity 31 HP:0008321

MGI Mouse Phenotypes related to Factor X Deficiency:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 F5 F7 F9 F10 SERPINC1 F11
2 homeostasis/metabolism MP:0005376 9.85 F3 VWF F5 F7 F9 F10
3 embryo MP:0005380 9.8 F5 F9 SERPINC1 SSB F2 TFPI
4 mortality/aging MP:0010768 9.7 VWF F5 F7 F9 F10 SERPINC1
5 nervous system MP:0003631 9.28 VWF F5 RBM8A SERPINC1 F11 SSB

Drugs & Therapeutics for Factor X Deficiency

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 A Study Investigating Treatment Factor X in People With Factor X Deficiency Completed NCT00930176 Phase 3
2 A Study to Investigate BPL's Factor X in the Prophylaxis of Bleeding in Children <12 Years Completed NCT01721681 Phase 3
3 Safety & Efficacy of BPL's High Purity FACTOR X in Treatment of Factor X Deficient Subjects Undergoing Surgery Terminated NCT01086852 Phase 3
4 Registry Study of COAGADEX® Patients With Moderate or Severe Hereditary Factor X Deficiency Undergoing Major Surgery Recruiting NCT03161626 Coagadex

Search NIH Clinical Center for Factor X Deficiency

Cochrane evidence based reviews: factor x deficiency

Genetic Tests for Factor X Deficiency

Genetic tests related to Factor X Deficiency:

# Genetic test Affiliating Genes
1 Factor X Deficiency 28 F10

Anatomical Context for Factor X Deficiency

MalaCards organs/tissues related to Factor X Deficiency:

Liver, Lung, Skin, Testes, Myeloid

Publications for Factor X Deficiency

Articles related to Factor X Deficiency:

(show top 50) (show all 225)
# Title Authors Year
A patient with acquired factor X deficiency and metastatic transitional cell carcinoma of the bladder: is there a link between metastasis and factor deficiency in solid tumors? ( 29130135 )
Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage. ( 28302935 )
Posterior reversible encephalopathy syndrome following blood transfusion in a patient with factor X deficiency: Is it an unusual systemic manifestation of an adverse transfusion reaction? ( 29289486 )
Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion. ( 28580769 )
The long-term Outcomes after VAD plus SCT Therapy in a Patient with AL Amyloidosis and Severe Factor X Deficiency. ( 29093408 )
Diagnostic Error of a Patient with Combined Inherited Factor VII and Factor X Deficiency due to Accidental Ingestion of a Diphacinone Rodenticide. ( 28164683 )
Rare post-operative complications in a previously undiagnosed Congenital Factor X deficiency patient. ( 28028305 )
Prevalence of bleeding manifestations in 128 heterozygotes for Factor X deficiency, mainly for FX Friuli, matched vs 128 unaffected family members, during a long sequential observation period (23.5 years). ( 27124643 )
Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency. ( 27197801 )
A case of factor X deficiency in a Chihuahua dog. ( 27493287 )
Experience of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency undergoing surgery. ( 27217097 )
[Homozygous missense mutation p.Val298Met of F10 gene causing hereditary coagulation factor X deficiency in a Chinese pedigree]. ( 27264807 )
Pharmacokinetics of a high-purity plasma-derived factor X concentrate in subjects with moderate or severe hereditary factor X deficiency. ( 26879266 )
Use of prothrombin complex concentrate for prophylaxis of bleeding in acquired factor X deficiency associated with light-chain amyloidosis. ( 27416580 )
A family with factor X deficiency from Argentina: a compound heterozygosis because of the combination of a new mutation (Gln138Arg) with an already known one (Glu350Lys). ( 27031279 )
Intracranial Hemorrhage as the First Manifestation of Severe Congenital Factor X Deficiency in a 20-Month-Old Male: Case Report and Review of the Literature. ( 27098186 )
Synergistic effect of factor VII gene polymorphisms causing mild factor VII deficiency in a case of severe factor X deficiency. ( 26919454 )
Successful Use of Four Factor-Prothrombin Complex Concentrate for Congenital Factor X Deficiency in the Setting of Neurosurgery. ( 27378481 )
Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency. ( 26891460 )
Complex History of the Discovery and Characterization of Congenital Factor X Deficiency. ( 25875733 )
Importance of Pharmacokinetic Studies in the Management of Acquired Factor X Deficiency. ( 25782416 )
Successful treatment of a noninhibitory antibody-mediated acquired factor X deficiency in a patient with marginal-zone lymphoma. ( 26273448 )
Molecular analysis of patients with severe congenital factor X deficiency: First report from north and northwest of Iran. ( 25984924 )
Surgical treatment for a paraplegic patient induced by congenital factor X deficiency. ( 26550274 )
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency. ( 26222694 )
Autologous stem cell transplantation in immunoglobulin light chain amyloidosis with factor X deficiency. ( 26218969 )
Neonatal onset of congenital factor X deficiency: a description of two novel mutations with 6-year follow-up. ( 26083982 )
A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency. ( 26309706 )
Factor X deficiency associated with compound heterozygosity involving a novel missense mutation at codon 38 from Val (GTC) to Leu (CTC) in exon 2. ( 25803519 )
Near fatal spontaneous intraperitoneal bleeding: A rare manifestation in a congenital factor X deficiency carrier. ( 25810617 )
Successful perioperative use of prothrombin complex concentrate in the treatment of acquired factor X deficiency in the setting of systemic light-chain (AL) amyloidosis. ( 25060940 )
Acquired factor X deficiency developed four years after autologous transplantation in a patient with multiple myeloma associated with systemic AL amyloidosis. ( 24881922 )
Utility of factor X concentrate for the treatment of acquired factor X deficiency in systemic light-chain amyloidosis. ( 24786460 )
Acquired factor X deficiency associated with atypical AL-amyloidosis. ( 25130122 )
Circumcision in Patients with Congenital Factor X Deficiency. ( 24972549 )
Spontaneous spinal epidural hematoma in a patient with acquired Factor X deficiency secondary to systemic amyloid light-chain amyloidosis. ( 24974738 )
Life-threatening bleeding tendency provoked by an acquired isolated factor X deficiency associated with respiratory infection. ( 23463452 )
Pharmacokinetics and prophylactic use of FEIBA in a child with severe congenital factor X deficiency and recurrent spontaneous intracranial haemorrhage: a case report. ( 23902347 )
Factor X deficiency: a rare cause of puberty menorrhagia. ( 22696092 )
Six novel missense mutations causing factor X deficiency and application of thrombin generation test. ( 23664564 )
Acquired factor X deficiency in systemic amyloidosis: management of two cases. ( 24033815 )
The clinical findings and prophylactic treatment in children with factor X deficiency. ( 23560890 )
Femur fracture in a woman with severe factor X deficiency - an experience using factor X concentrate in surgery. ( 24033840 )
Hemorrhage because of amyloid-related factor X deficiency after insertion of Tenckhoff catheter. ( 22991017 )
Subgaleal hemorrhage in a neonate with factor X deficiency following a non-traumatic cesarean section. ( 22460599 )
Factor X deficiency and pregnancy: case report and counselling. ( 21943166 )
Acquired, non-amyloid related factor X deficiency: review of the literature. ( 23437437 )
Factor X deficiency and pregnancy: preconception counselling and therapeutic options. ( 22151249 )
Successful liver transplantation for a child with life-threatening recurrent bleeding episodes due to congenital factor X deficiency: a case report. ( 22506295 )
Efficacy of prophylaxis and genotype-phenotype correlation in patients with severe Factor X deficiency in Iran. ( 21854511 )

Variations for Factor X Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Factor X Deficiency:

71 (show all 26)
# Symbol AA change Variation ID SNP ID
1 F10 p.Glu47Gly VAR_065428 rs121964943
2 F10 p.Gly51Val VAR_065429 rs751782758
3 F10 p.Glu54Gly VAR_065430 rs121964944
4 F10 p.Glu54Lys VAR_065431 rs121964939
5 F10 p.Glu72Gln VAR_065432 rs121964945
6 F10 p.Glu91Lys VAR_065433
7 F10 p.Cys149Tyr VAR_065435
8 F10 p.Cys151Tyr VAR_065436
9 F10 p.Gly289Arg VAR_065437 rs121964946
10 F10 p.Glu304Lys VAR_065438 rs747292771
11 F10 p.Asp322Asn VAR_065439 rs121964942
12 F10 p.Arg327Trp VAR_065440 rs770119164
13 F10 p.Val338Met VAR_065441 rs121964947
14 F10 p.Glu350Lys VAR_065442 rs372309538
15 F10 p.Thr358Met VAR_065443 rs768222784
16 F10 p.Gly363Ser VAR_065444
17 F10 p.Arg366Cys VAR_065445 rs104894392
18 F10 p.Ser374Pro VAR_065446 rs121964941
19 F10 p.Pro383Ser VAR_065447 rs121964940
20 F10 p.Cys390Phe VAR_065448 rs199778916
21 F10 p.Cys404Arg VAR_065449
22 F10 p.Gly406Ser VAR_065450 rs376163818
23 F10 p.Gly420Arg VAR_065451 rs750759634
24 F10 p.Lys448Asn VAR_065452
25 F10 p.Val382Ala VAR_072751
26 F10 p.Gly421Asp VAR_072752 rs758726161

ClinVar genetic disease variations for Factor X Deficiency:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 F10 NM_000504.3(F10): c.813delC (p.Leu272Terfs) deletion Pathogenic rs387906506 GRCh37 Chromosome 13, 113801758: 113801758
2 F10 NM_000504.3(F10): c.1096C> T (p.Arg366Cys) single nucleotide variant Pathogenic rs104894392 GRCh37 Chromosome 13, 113803460: 113803460
3 F10 F10, GLU14LYS single nucleotide variant Pathogenic
4 F10 F10, VAL298MET undetermined variant Pathogenic
5 F10 F10, PRO343SER single nucleotide variant Pathogenic
6 F10 F10, G-A, -20 single nucleotide variant Pathogenic
7 F10 NM_000504.3(F10): c.859A> T (p.Arg287Trp) single nucleotide variant Pathogenic rs121964948 GRCh37 Chromosome 13, 113801804: 113801804
8 F10 F10, SER334PRO undetermined variant Pathogenic
9 F10 NM_000504.3(F10): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs61753266 GRCh37 Chromosome 13, 113795286: 113795286
10 F10 F10, ASP282ASN undetermined variant Pathogenic
11 F10 F10, GLU7GLY single nucleotide variant Pathogenic
12 F10 Factor X Ketchikan single nucleotide variant Pathogenic
13 F10 F10, GLU32GLN single nucleotide variant Pathogenic
14 F10; F7 NM_000131.4(F7): c.1238G> A (p.Arg413Gln) single nucleotide variant risk factor rs6046 GRCh37 Chromosome 13, 113773159: 113773159
15 F10 F10, THR318MET undetermined variant Pathogenic

Expression for Factor X Deficiency

Search GEO for disease gene expression data for Factor X Deficiency.

Pathways for Factor X Deficiency

Pathways related to Factor X Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
13.1 F10 F11 F2 F3 F5 F7
Show member pathways
12.53 F10 F11 F2 F3 F5 F7
3 11.8 F10 F11 F2 F3 F5 F7
Show member pathways
11.7 F10 F2 F7 F9
Show member pathways
11.52 F10 F11 F2 F3 F5 F7
6 10.9 F2 TFPI
7 10.73 F10 F2 F7 F9

GO Terms for Factor X Deficiency

Cellular components related to Factor X Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 F11 F2 F3 F5 F7 F9
2 extracellular region GO:0005576 9.65 F10 F11 F2 F3 F5 F7
3 Golgi lumen GO:0005796 9.46 F10 F2 F7 F9
4 platelet alpha granule GO:0031091 9.4 F5 VWF
5 intrinsic component of external side of plasma membrane GO:0031233 9.32 F10 F3
6 serine-type peptidase complex GO:1905286 9.26 F3 F7
7 endoplasmic reticulum lumen GO:0005788 9.1 F10 F2 F5 F7 F9 SERPINC1
8 plasma membrane GO:0005886 10.13 F10 F11 F2 F3 F5 F7

Biological processes related to Factor X Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.91 F10 F11 F2 F7 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.8 F10 F2 F5 F7 F9
3 positive regulation of protein kinase B signaling GO:0051897 9.7 F10 F3 F7
4 signal peptide processing GO:0006465 9.67 F10 F2 F7 F9
5 blood coagulation, intrinsic pathway GO:0007597 9.65 F10 F11 F2 F9 VWF
6 blood coagulation GO:0007596 9.65 F10 F11 F2 F3 F5 F7
7 peptidyl-glutamic acid carboxylation GO:0017187 9.62 F10 F2 F7 F9
8 regulation of blood coagulation GO:0030193 9.61 F11 F2 SERPINC1
9 blood coagulation, extrinsic pathway GO:0007598 9.55 F10 F3 F7 F9 TFPI
10 positive regulation of blood coagulation GO:0030194 9.49 F2 F7
11 positive regulation of positive chemotaxis GO:0050927 9.48 F3 F7
12 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.46 F3 F7
13 hemostasis GO:0007599 9.32 F10 F11 F2 F3 F5 F7

Molecular functions related to Factor X Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.55 F10 F11 F2 F7 F9
2 heparin binding GO:0008201 9.5 F11 F2 SERPINC1
3 protease binding GO:0002020 9.43 F3 SERPINC1 VWF
4 serine-type peptidase activity GO:0008236 9.35 F10 F11 F2 F7 F9
5 serine-type endopeptidase activity GO:0004252 9.1 F10 F11 F2 F3 F7 F9

Sources for Factor X Deficiency

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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