FA10D
MCID: FCT003
MIFTS: 54

Factor X Deficiency (FA10D)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Factor X Deficiency

MalaCards integrated aliases for Factor X Deficiency:

Name: Factor X Deficiency 57 12 73 20 43 72 36 29 13 54 6 44 15 70
Stuart-Prower Factor Deficiency 57 20 43 58 72
F10 Deficiency 57 20 43 72
Congenital Stuart Factor Deficiency 43 58
Hereditary Factor X Deficiency Disease 70
Stuart Factor Deficiency, Congenital 20
Factor X Deficiency, Congenital 20
Congenital Factor X Deficiency 58
Disease, Stuart-Prower 12
Factor 10 Deficiency 72
Deficiency, Factor X 39
Fa10d 72

Characteristics:

Orphanet epidemiological data:

58
congenital factor x deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
factor x deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2222
OMIM® 57 227600
KEGG 36 H02257
MeSH 44 D005171
NCIt 50 C131632
SNOMED-CT 67 76642003
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 71 C0015519
Orphanet 58 ORPHA328
MedGen 41 C0015519
UMLS 70 C0015519 C0272327

Summaries for Factor X Deficiency

GARD : 20 Factor X deficiency is a rare disorder that affects the blood's ability to clot. The severity of the disorder 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. Women with factor X deficiency 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 disorder, generally occurs in people with no family history of the disorder. Acquired factor X deficiency has a variety of causes including liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and certain types of cancer. 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. Factor X deficiency can be diagnosed based on the symptoms and through laboratory tests to measure clotting time. The goal of treatment is to control bleeding through intravenous (IV) infusions of plasma or concentrates of clotting factors.

MalaCards based summary : Factor X Deficiency, also known as stuart-prower factor deficiency, is related to hemophilia and vitamin k deficiency bleeding. An important gene associated with Factor X Deficiency is F10 (Coagulation Factor X), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include liver, spleen and colon, and related phenotypes are prolonged prothrombin time and reduced factor x activity

Disease Ontology : 12 A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood.

MedlinePlus Genetics : 43 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.

OMIM® : 57 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) (Updated 05-Apr-2021)

KEGG : 36 Congenital factor X deficiency (FXD) is one of the most severe forms of rare bleeding disorders transmitted in autosomal recessive manner. FXD is accompanied by a wide spectrum of clinical presentations, ranging from mild bleeding diathesis to severe life-threatening bleeding episodes such as umbilical cord bleeding and intracranial hemorrhage. A wide spectrum of factor X gene mutations was observed in patients with congenital FXD.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 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 220)
# Related Disease Score Top Affiliating Genes
1 hemophilia 30.2 F9 F7
2 vitamin k deficiency bleeding 29.7 F9 F7 F3 F2
3 atrial fibrillation 29.6 F9 F2 F10
4 cardiac tamponade 29.3 F9 F7 F3 F2
5 factor vii deficiency 29.3 F9 F7 F3 F2 F10
6 antiphospholipid syndrome 29.1 F5 F3 F2 F10
7 hemarthrosis 29.0 F9 F7 F3 F2 F11 F10
8 hemophilia a 29.0 F9 F7 F5 F3
9 hemophilia b 28.8 F9 F7 F3 F2 F11 F10
10 disseminated intravascular coagulation 28.7 F9 F7 F5 F3 F2 F10
11 factor xii deficiency 28.5 F9 F7 F5 F3 F11
12 hemorrhagic disease 28.3 F9 F7 F5 F3 F2 F11
13 factor viii deficiency 27.9 F9 F7 F5 F3 F2 F11
14 thrombophilia 27.9 F9 F7 F5 F3 F2 F11
15 thrombosis 27.9 F9 F7 F5 F3 F2 F11
16 amyloidosis 10.8
17 al amyloidosis 10.4
18 rare hemorrhagic disorder 10.4
19 heparin-induced thrombocytopenia 10.2 F3 F10
20 cholesterol embolism 10.2 F7 F2
21 leech infestation 10.2 F3 F10
22 myeloma, multiple 10.2
23 autosomal recessive disease 10.2
24 rare coagulation disorder 10.2
25 achenbach syndrome 10.2 F3 F2
26 renal pelvis squamous cell carcinoma 10.2 F3 F2
27 papillary adenofibroma 10.2 F3 F2
28 femoral neuropathy 10.2 F3 F2
29 emphysematous cholecystitis 10.2 F3 F2
30 giant hemangioma 10.2 F3 F2
31 hemopneumothorax 10.2 F3 F2
32 cerebral falx meningioma 10.2 F3 F2
33 ankylosing spondylitis 1 10.2 F3 F2
34 waterhouse-friderichsen syndrome 10.2 F3 F2
35 pulmonary embolism and infarction 10.2 F3 F2
36 acute pulmonary heart disease 10.2 F3 F2
37 cavernous sinus thrombosis 10.2 F3 F2
38 epidural abscess 10.2 F3 F2
39 lemierre's syndrome 10.2 F3 F2
40 acute cor pulmonale 10.2 F3 F2
41 posterior cerebral artery infarction 10.2 F3 F2
42 gastric hemangioma 10.2 F3 F2
43 hepatic infarction 10.2 F3 F2
44 intracranial sinus thrombosis 10.2 F3 F2
45 intracranial hypotension 10.1 F3 F2
46 intracranial embolism 10.1 F3 F2
47 branch retinal artery occlusion 10.1 F3 F2
48 adhesive otitis media 10.1 F9 F7
49 hepatic coma 10.1 F3 F2
50 splenic sequestration 10.1 F3 F2

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



Diseases related to Factor X Deficiency

Symptoms & Phenotypes for Factor X Deficiency

Human phenotypes related to Factor X Deficiency:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged prothrombin time 58 31 obligate (100%) Obligate (100%) HP:0008151
2 reduced factor x activity 58 31 obligate (100%) Obligate (100%) HP:0008321
3 prolonged bleeding after dental extraction 58 31 hallmark (90%) Very frequent (99-80%) HP:0006298
4 prolonged bleeding after surgery 58 31 hallmark (90%) Very frequent (99-80%) HP:0004846
5 epistaxis 58 31 frequent (33%) Frequent (79-30%) HP:0000421
6 gingival bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0000225
7 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
8 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
9 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
10 spontaneous hematomas 58 31 occasional (7.5%) Occasional (29-5%) HP:0007420
11 menorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000132
12 post-partum hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0011891
13 oral cavity bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0030140
14 intramuscular hematoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012233
15 joint hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0005261
16 abnormal umbilical stump bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0011884
17 antepartum hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0025328
18 subarachnoid hemorrhage 58 31 very rare (1%) Very rare (<4-1%) HP:0002138
19 hemoperitoneum 58 31 very rare (1%) Very rare (<4-1%) HP:0011854
20 intracranial hemorrhage 31 HP:0002170
21 abnormality of the musculature 31 HP:0003011
22 prolonged partial thromboplastin time 31 HP:0003645

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
epistaxis

Genitourinary Internal Genitalia Female:
menorrhagia

Hematology:
bleeding diathesis

Muscle Soft Tissue:
intramuscular hematomas
umbilical cord bleeding

Neurologic Central Nervous System:
intracranial hemorrhage

Head And Neck Mouth:
bleeding gums

Skeletal:
hemarthrosis

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®:

227600 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Factor X Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.17 F10 F11 F2 F3 F5 F7

Drugs & Therapeutics for Factor X Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase III Open, Multicentre Study to Investigate the Safety, Pharmacokinetics and Efficacy of BPL's High Purity Factor X in the Prophylaxis of Bleeding in Factor X Deficient Children Under the Age of 12 Years Completed NCT01721681 Phase 3
2 A Phase III Open, Multicentre Study to Investigate the Pharmacokinetics, Safety and Efficacy of BPL's High Purity Factor X in the Treatment of Severe and Moderate Factor X Deficiency. Completed NCT00930176 Phase 3
3 A Phase III Open, Multicentre Study to Investigate the Safety and Efficacy of BPL's High Purity FACTOR X in the Treatment of Factor X Deficient Subjects Undergoing Surgery Terminated NCT01086852 Phase 3
4 A Multicenter, Post-Marketing Registry Study of COAGADEX® in the Peri-operative Management of 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 29 F10

Anatomical Context for Factor X Deficiency

MalaCards organs/tissues related to Factor X Deficiency:

40
Liver, Spleen, Colon, Lung, Myeloid, Tongue

Publications for Factor X Deficiency

Articles related to Factor X Deficiency:

(show top 50) (show all 406)
# Title Authors PMID Year
1
Human coagulation factor X deficiency caused by a mutant signal peptide that blocks cleavage by signal peptidase but not targeting and translocation to the endoplasmic reticulum. 57 6 61 54
8449937 1993
2
Molecular analysis of the genotype-phenotype relationship in factor X deficiency. 61 57 6
10746568 2000
3
Inherited factor X deficiency: molecular genetics and pathophysiology. 6 57 61
9198147 1997
4
Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain. 61 6 57
7669671 1995
5
Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X "Vorarlberg"). 61 6 57
1973167 1990
6
Molecular characterization of human factor XSan Antonio. 57 6 61
2790181 1989
7
Factor X Stockton: a mild bleeding diathesis associated with an active site mutation in factor X. 57 6
8845463 1996
8
Factor XKetchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain. 57 6
7860069 1995
9
Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion. 6 57
1939653 1991
10
Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343. 6 57
1985698 1991
11
Factor X Roma: a congenital factor X variant defective at different degrees in the intrinsic and the extrinsic activation. 6 57
3408671 1988
12
Lupus anticoagulant associated with transient severe factor X deficiency: a report of two patients presenting with major bleeding complications. 57 61
12752106 2003
13
Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency. 57 61
12028042 2002
14
A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). 6 61
10468877 1999
15
Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients. 57 61
9695984 1998
16
Congenital coagulopathies and pregnancy: report of four pregnancies in a factor X-deficient woman. 57 61
8192155 1994
17
Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism. 61 57
1997381 1991
18
Partial gene deletion in a family with factor X deficiency. 57 61
2567188 1989
19
Severe congenital factor X deficiency with intracranial haemorrhage. 61 57
3732313 1986
20
Congenital factor X deficiency and incomplete transverse paralysis. 57 61
7277652 1981
21
Mechanism of factor X deficiency in systemic amyloidosis. 61 57
7207512 1981
22
Congenital factor X deficiency in Japan. 61 57
7233424 1981
23
Factor X deficiency in primary amyloidosis: resolution after splenectomy. 57 61
492235 1979
24
Syndrome of acquired factor X deficiency and systemic amyloidosis in vivo studies of the metabolic fate of factor X. 61 57
865580 1977
25
Canine factor X (Stuart-Prower factor) deficiency. 57 61
4755433 1973
26
Congenital haemorrhagic condition similar but not identical to factor X deficiency. A haemorrhagic state due to an abnormal factor X? 57 61
5450692 1970
27
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
28
Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency. 20 61
27197801 2016
29
Complex history of the discovery and characterization of congenital factor X deficiency. 20 61
25875733 2015
30
Six characters in search of an author: the history of the nomenclature of coagulation factors. 57
12780784 2003
31
Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. 57
9683596 1998
32
Factor XSt. Louis II. Identification of a glycine substitution at residue 7 and characterization of the recombinant protein. 6
8910490 1996
33
The structural gene for human coagulation factor X is located on chromosome 13q34. 57
4042693 1985
34
Factor X Padua: a 'new' congenital factor X abnormality with a defect only in the extrinsic system. 57
3923765 1985
35
A family with heterozygous factor X Friuli defect outside Friuli. 57
6824795 1983
36
Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). 57
6985471 1982
37
Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X. 57
6985462 1980
38
Fletcher factor deficiency: report of a new family. 57
694428 1978
39
Factor X Friuli coagulation disorder. The demise of the index patient. 57
808943 1975
40
Abnormal factor X(factor X Friuli) coagulation disorder. 57
4196477 1973
41
Further studies on the abnormal factor X (factor X Friuli) coagulation disorder: a report of another family. 57
4995085 1971
42
A "new" congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): study of a large kindred. 57
4989292 1970
43
HEREDITARY DEFICIENCIES OF CLOTTING FACTORS VII AND X ASSOCIATED WITH CAROTID-BODY TUMORS. 57
14062129 1964
44
Stuart clotting defect. II. Genetic aspects of a new hemorrhagic state. 57
13406064 1957
45
Stuart clotting defect. I. Segregation of an hereditary hemorrhagic state from the heterogeneous group heretofore called stable factor (SPCA, proconvertin, factor VII) deficiency. 57
13406063 1957
46
A new coagulation defect. 57
13342365 1956
47
Congenital hypoproconvertinemia. 57
13134245 1953
48
The clinical significance of the lack of arterial or venous thrombosis in patients with congenital prothrombin or FX deficiency. 54 61
19412729 2010
49
Clinical audit of inherited bleeding disorders in a developing country. 54 61
20090222 2010
50
Menorrhagia and reproductive health in rare bleeding disorders: a study from the Indian subcontinent. 54 61
18803553 2009

Variations for Factor X Deficiency

ClinVar genetic disease variations for Factor X Deficiency:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F10 F10, GLU14LYS SNV Pathogenic 12055 GRCh37:
GRCh38:
2 F10 F10, VAL298MET Variation Pathogenic 12056 GRCh37:
GRCh38:
3 F10 F10, PRO343SER SNV Pathogenic 12057 GRCh37:
GRCh38:
4 F10 F10, G-A, -20 SNV Pathogenic 12058 GRCh37:
GRCh38:
5 F10 F10, SER334PRO Variation Pathogenic 12060 GRCh37:
GRCh38:
6 F10 F10, ASP282ASN Variation Pathogenic 12062 GRCh37:
GRCh38:
7 F10 F10, GLU7GLY SNV Pathogenic 12063 GRCh37:
GRCh38:
8 F10 Factor X Ketchikan SNV Pathogenic 12064 GRCh37:
GRCh38:
9 F10 F10, GLU32GLN SNV Pathogenic 12065 GRCh37:
GRCh38:
10 F10 F10, THR318MET Variation Pathogenic 31081 GRCh37:
GRCh38:
11 F10 NM_000504.4(F10):c.1096C>T (p.Arg366Cys) SNV Pathogenic 12053 rs104894392 GRCh37: 13:113803460-113803460
GRCh38: 13:113149146-113149146
12 F10 NM_000504.4(F10):c.859A>T (p.Arg287Trp) SNV Pathogenic 12059 rs121964948 GRCh37: 13:113801804-113801804
GRCh38: 13:113147490-113147490
13 F10 NM_000504.4(F10):c.814del (p.Ile271_Leu272insTer) Deletion Pathogenic 12054 rs387906506 GRCh37: 13:113801758-113801758
GRCh38: 13:113147444-113147444
14 F10 NM_000504.4(F10):c.921G>A (p.Val307=) SNV Pathogenic 1033059 GRCh37: 13:113803285-113803285
GRCh38: 13:113148971-113148971
15 F11 Deletion Likely pathogenic 627505 GRCh37: 4:187186066-187210839
GRCh38:
16 F10 NM_000504.4(F10):c.1210T>C (p.Cys404Arg) SNV Likely pathogenic 626923 rs1595099645 GRCh37: 13:113803574-113803574
GRCh38: 13:113149260-113149260
17 F10 NM_000504.4(F10):c.1348G>A (p.Gly450Arg) SNV Likely pathogenic 626926 rs1595099844 GRCh37: 13:113803712-113803712
GRCh38: 13:113149398-113149398
18 F10 NM_000504.4(F10):c.1087G>A (p.Gly363Ser) SNV Likely pathogenic 626966 rs1595099527 GRCh37: 13:113803451-113803451
GRCh38: 13:113149137-113149137
19 F10 NM_000504.4(F10):c.400G>A (p.Gly134Arg) SNV Likely pathogenic 627060 rs368225671 GRCh37: 13:113795262-113795262
GRCh38: 13:113140948-113140948
20 F10-AS1 , F10 NM_000504.4(F10):c.161A>G (p.Glu54Gly) SNV Likely pathogenic 627253 rs121964944 GRCh37: 13:113783856-113783856
GRCh38: 13:113129542-113129542
21 F10-AS1 , F10 NM_000504.4(F10):c.160G>A (p.Glu54Lys) SNV Conflicting interpretations of pathogenicity 627251 rs121964939 GRCh37: 13:113783855-113783855
GRCh38: 13:113129541-113129541
22 F10 NM_000504.4(F10):c.57G>A (p.Leu19=) SNV Uncertain significance 311268 rs370154986 GRCh37: 13:113777226-113777226
GRCh38: 13:113122912-113122912
23 F10 NM_000504.4(F10):c.1406G>A (p.Arg469Lys) SNV Uncertain significance 880650 GRCh37: 13:113803770-113803770
GRCh38: 13:113149456-113149456
24 F10 NM_000504.4(F10):c.424G>A (p.Glu142Lys) SNV Uncertain significance 12061 rs61753266 GRCh37: 13:113795286-113795286
GRCh38: 13:113140972-113140972
25 F10 NM_000504.4(F10):c.60C>T (p.Leu20=) SNV Uncertain significance 311269 rs3211718 GRCh37: 13:113777229-113777229
GRCh38: 13:113122915-113122915
26 F10 NC_000013.11:g.113122796G>A SNV Uncertain significance 880573 GRCh37: 13:113777110-113777110
GRCh38: 13:113122796-113122796
27 F10 NM_000504.4(F10):c.535C>T (p.Arg179Cys) SNV Uncertain significance 627331 rs1277295882 GRCh37: 13:113798197-113798197
GRCh38: 13:113143883-113143883
28 F10 NM_000504.4(F10):c.702G>C (p.Arg234Ser) SNV Uncertain significance 627360 rs1595096266 GRCh37: 13:113798364-113798364
GRCh38: 13:113144050-113144050
29 F10 NM_000504.4(F10):c.1321G>A (p.Glu441Lys) SNV Uncertain significance 627230 rs1305872315 GRCh37: 13:113803685-113803685
GRCh38: 13:113149371-113149371
30 F10 NM_000504.4(F10):c.7C>T (p.Arg3Cys) SNV Uncertain significance 311267 rs149972574 GRCh37: 13:113777176-113777176
GRCh38: 13:113122862-113122862
31 F10 NM_000504.4(F10):c.584C>G (p.Pro195Arg) SNV Uncertain significance 311276 rs886050002 GRCh37: 13:113798246-113798246
GRCh38: 13:113143932-113143932
32 F10 NM_000504.4(F10):c.1237G>A (p.Asp413Asn) SNV Uncertain significance 626983 rs1595099677 GRCh37: 13:113803601-113803601
GRCh38: 13:113149287-113149287
33 F10 NM_000504.4(F10):c.241T>G (p.Trp81Gly) SNV Uncertain significance 627043 rs1595092916 GRCh37: 13:113792780-113792780
GRCh38: 13:113138466-113138466
34 F10 NM_000504.4(F10):c.878C>T (p.Thr293Met) SNV Uncertain significance 311279 rs752412971 GRCh37: 13:113803242-113803242
GRCh38: 13:113148928-113148928
35 F10 NM_000504.4(F10):c.348C>T (p.Phe116=) SNV Uncertain significance 311272 rs747030511 GRCh37: 13:113793762-113793762
GRCh38: 13:113139448-113139448
36 F10 NM_000504.4(F10):c.1215C>T (p.Ala405=) SNV Uncertain significance 311280 rs770904651 GRCh37: 13:113803579-113803579
GRCh38: 13:113149265-113149265
37 F10 NM_000504.4(F10):c.747+11G>A SNV Uncertain significance 311278 rs376728587 GRCh37: 13:113798420-113798420
GRCh38: 13:113144106-113144106
38 F10 NM_000504.4(F10):c.1043G>A (p.Trp348Ter) SNV Uncertain significance 631696 rs1566922655 GRCh37: 13:113803407-113803407
GRCh38: 13:113149093-113149093
39 F10 NM_000504.4(F10):c.633C>G (p.Thr211=) SNV Uncertain significance 311277 rs140852978 GRCh37: 13:113798295-113798295
GRCh38: 13:113143981-113143981
40 F10 NM_000504.4(F10):c.1226C>T (p.Thr409Ile) SNV Uncertain significance 311281 rs775241064 GRCh37: 13:113803590-113803590
GRCh38: 13:113149276-113149276
41 F10 NM_000504.4(F10):c.257-12C>T SNV Uncertain significance 311271 rs372691873 GRCh37: 13:113793659-113793659
GRCh38: 13:113139345-113139345
42 F10 NM_000504.4(F10):c.872G>A (p.Arg291Gln) SNV Uncertain significance 619972 rs149212700 GRCh37: 13:113803236-113803236
GRCh38: 13:113148922-113148922
43 F10 NM_000504.4(F10):c.-10C>G SNV Uncertain significance 880574 GRCh37: 13:113777160-113777160
GRCh38: 13:113122846-113122846
44 F10 NM_000504.4(F10):c.1347C>T (p.Tyr449=) SNV Uncertain significance 880649 GRCh37: 13:113803711-113803711
GRCh38: 13:113149397-113149397
45 F10 NM_000504.4(F10):c.1415C>T (p.Pro472Leu) SNV Uncertain significance 880651 GRCh37: 13:113803779-113803779
GRCh38: 13:113149465-113149465
46 F10-AS1 , F10 NM_000504.4(F10):c.142A>C (p.Met48Leu) SNV Uncertain significance 881987 GRCh37: 13:113783837-113783837
GRCh38: 13:113129523-113129523
47 F10 NM_000504.4(F10):c.261C>T (p.Gly87=) SNV Uncertain significance 881988 GRCh37: 13:113793675-113793675
GRCh38: 13:113139361-113139361
48 F10 NM_000504.4(F10):c.318G>C (p.Gly106=) SNV Uncertain significance 881989 GRCh37: 13:113793732-113793732
GRCh38: 13:113139418-113139418
49 F10 NM_000504.4(F10):c.460G>A (p.Gly154Arg) SNV Uncertain significance 883156 GRCh37: 13:113795322-113795322
GRCh38: 13:113141008-113141008
50 F10 NM_000504.4(F10):c.646G>A (p.Asp216Asn) SNV Uncertain significance 883157 GRCh37: 13:113798308-113798308
GRCh38: 13:113143994-113143994

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

72 (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 rs147732975
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

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 KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 F9 F7 F5 F3 F2 F11
2
Show member pathways
12.53 F9 F7 F5 F3 F2 F11
3
Show member pathways
11.7 F9 F7 F2 F10
4
Show member pathways
11.7 F9 F7 F5 F3 F2 F11
5 11.33 F9 F7 F5 F3 F2 F11
6 10.63 F9 F7 F2 F10

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 region GO:0005576 9.91 F9 F7 F5 F3 F2 F11
2 extracellular space GO:0005615 9.8 F9 F7 F5 F3 F2 F11
3 collagen-containing extracellular matrix GO:0062023 9.71 F9 F7 F3 F2
4 intrinsic component of external side of plasma membrane GO:0031233 9.32 F3 F10
5 Golgi lumen GO:0005796 9.26 F9 F7 F2 F10
6 serine-type peptidase complex GO:1905286 9.16 F7 F3
7 endoplasmic reticulum lumen GO:0005788 9.02 F9 F7 F5 F2 F10

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.8 F9 F7 F2 F11 F10
2 positive regulation of cell migration GO:0030335 9.69 F7 F3 F10
3 positive regulation of protein kinase B signaling GO:0051897 9.67 F7 F3 F10
4 ER to Golgi vesicle-mediated transport GO:0006888 9.65 F9 F7 F5 F2 F10
5 blood coagulation, intrinsic pathway GO:0007597 9.5 F9 F2 F11
6 blood coagulation GO:0007596 9.5 F9 F7 F5 F3 F2 F11
7 positive regulation of blood coagulation GO:0030194 9.48 F7 F2
8 regulation of blood coagulation GO:0030193 9.46 F2 F11
9 positive regulation of positive chemotaxis GO:0050927 9.43 F7 F3
10 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.37 F7 F3
11 blood coagulation, extrinsic pathway GO:0007598 9.33 F7 F3 F10
12 hemostasis GO:0007599 9.17 F9 F7 F5 F3 F2 F11

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.72 F9 F7 F2 F11 F10
2 calcium ion binding GO:0005509 9.56 F9 F7 F2 F10
3 peptidase activity GO:0008233 9.55 F9 F7 F2 F11 F10
4 serine-type peptidase activity GO:0008236 9.35 F9 F7 F2 F11 F10
5 serine-type endopeptidase activity GO:0004252 9.1 F9 F7 F3 F2 F11 F10

Sources for Factor X Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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