MCID: FCT002
MIFTS: 56

Factor Xi Deficiency malady

Immune, Blood categories

Summaries for Factor Xi Deficiency

Sources:
64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 Haemophilia C is a mild form of haemophilia affecting both sexes. However, it predominantly occurs in... more...

MalaCards: Factor Xi Deficiency, also known as plasma thromboplastin antecedent deficiency, is related to factor v deficiency and factor vii deficiency. An important gene associated with Factor Xi Deficiency is F11 (coagulation factor XI), and among its related pathways are PTM: gamma carboxylation, hypusine formation and arylsulfatase activation and Gamma-carboxylation, transport, and amino-terminal cleavage of proteins. The compounds coumarins and bivalirudin have been mentioned in the context of this disorder. Affiliated tissues include spleen, kidney and breast, and related mouse phenotypes are cardiovascular system and immune system.

Description from OMIM:47 612416

Aliases & Classifications for Factor Xi Deficiency

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT, 27ICD9CM, 47OMIM, 40NCIt, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune, Blood


Aliases & Descriptions:

factor xi deficiency 8 43 20 10 45 61
plasma thromboplastin antecedent deficiency 8 43
hereditary factor xi deficiency disease 8 22
factor xi deficiency, congenital 43
congenital factor xi deficiency 8
rosenthal's disease 8
rosenthal syndrome 43
f11 deficiency 43
pta deficiency 43
hemophilia c 8


External Ids:

Disease Ontology8 DOID:2229
ICD9CM27 286.2
SNOMED-CT57 49762007
OMIM47 612416
NCIt40 C84705
ICD1025 D68.1

Related Diseases for Factor Xi Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Factor Xi Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 161)
idRelated DiseaseScoreTop Affiliating Genes
1factor v deficiency31.2F8, F5, F3, F2
2factor vii deficiency30.9F9, F8, F5, F7, F3, F2
3factor viii deficiency30.5F9, F8, F5, F7, F3
4factor x deficiency30.5F9, F5, F7, F3, F2
5hemarthrosis30.4F9, F8, F3, VWF
6systemic lupus erythematosus30.4F8, F3, VWF, F2, THBD
7stroke, ischemic30.2F5, F2
8peripheral vascular disease30.2THBD, VWF, F3
9acute myocardial infarction30.1F7, F3, VWF, THBD
10bernard-soulier syndrome30.1F9, F8, VWF, F2
11vascular disease30.1THBD, VWF, F3, F7, F5
12thrombophilia30.1F5, F11, F12, F7, F3, VWF
13melkersson-rosenthal syndrome11.2
14crohn's disease10.5
15factor xi deficiency, autosomal recessive10.5
16hemophilia10.4
17xeroderma pigmentosum10.4
18factor xi deficiency, autosomal dominant10.3
19vulvitis10.3
20thyroiditis10.2
21tuberculosis10.2
22ehlers–danlos syndrome10.2
23headache10.2
24membranoproliferative glomerulonephritis10.1
25fibrous histiocytoma10.1
26noonan syndrome10.1
27leukocyte adhesion deficiency10.1
28juvenile rheumatoid arthritis10.1
29myositis ossificans10.1
30prader-willi syndrome10.1
31carotid artery occlusion10.1
32listeriosis10.1
33n syndrome10.1
34arthritis10.1
35squamous cell carcinoma10.1
36thymoma10.1
37acquired agranulocytosis10.1
38brown syndrome10.1
39glaucoma, congenital10.1
40thrombasthenia10.1
41fletcher factor deficiency10.1
42c9 deficiency10.1
43cataract, congenital10.1
44blindness10.1
45sigmoid colon cancer10.1
46congenital ectropion uveae10.1
47corneal disease10.0
48rosacea10.0
49otosclerosis10.0
50psoriatic arthritis10.0

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



Diseases related to factor xi deficiency

Clinical Features for Factor Xi Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612416

Drugs & Therapeutics for Factor Xi Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Factor Xi Deficiency

Drug clinical trials:

Search ClinicalTrials for Factor Xi Deficiency

Search NIH Clinical Center for Factor Xi Deficiency

Search CenterWatch for Factor Xi Deficiency

Genetic Tests for Factor Xi Deficiency

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Factor Xi Deficiency:

id Genetic test Affiliating Genes
1 Factor Xi Deficiency20 F11
2 Hereditary Factor Xi Deficiency Disease22

Anatomical Context for Factor Xi Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Factor Xi Deficiency:

33
Spleen, Kidney, Breast, Placenta, B cells

Animal Models for Factor Xi Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Factor Xi Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.9F9, F11, F7, F3, F2
2MP:00053877.4F8, F11, F3, VWF, F2, THBD
3MP:00053977.1F9, F8, F11, F3, VWF, F2
4MP:00036317.0ITSN2, F5, F11, F12, F3, VWF
5MP:00107686.6F9, F8, F5, F11, F7, F3
6MP:00053766.4THBD, F9, F8, F5, F11, F12

Publications for Factor Xi Deficiency

Sources:
51PubMed
See all sources

Articles related to Factor Xi Deficiency:

(show top 50)    (show all 197)
idTitleAuthorsYear
1
Factor XIII deficiency management: a review of the literature. (24401950)
2014
2
Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. (22928875)
2013
3
Recurrent Spontaneous Splenic Rupture in a Patient With Congenital Factor XIII Deficiency. (24351968)
2013
4
A child with acquired factor XIII deficiency: case report and literature review. (23607876)
2013
5
Post-infectious acute glomerulonephritis and transient coagulation factor XIII deficiency associated with acute parvovirus B19 infection in a young woman--reply. (23683879)
2013
6
Hyperfibrinolysis and acquired factor XIII deficiency in newly diagnosed pediatric malignancies. (23753026)
2013
7
Factor XIII deficiency: an update. (23929307)
2013
8
Intracranial hemorrhage pattern in the patients with factor XIII deficiency. (24149912)
2013
9
Spontaneous acute cerebral hematoma in a child with factor XIII deficiency. (23697960)
2013
10
Hemorrhagic-acquired factor XIII deficiency associated with tocilizumab for treatment of rheumatoid arthritis. (23070535)
2012
11
Acute Abdomen in a Young Girl with Factor XIII Deficiency Perianesthetic Issues. (23543997)
2012
12
Corifacta8c/FibrogamminAr P in the prophylactic treatment of hereditary factor XIII deficiency: results of a prospective, multicenter, open-label study. (23439001)
2012
13
Induction of hemodialysis therapy in a case with factor XIII deficiency. (21710188)
2011
14
Factor XIII deficiency as a potential cause of supratentorial haemorrhage after posterior fossa surgery. (19557304)
2010
15
Spontaneous regression of the inhibitor against the coagulation factor XIII A subunit in acquired factor XIII deficiency. (20941461)
2010
16
Spinal anaesthesia and caesarean section in a patient with hypofibrinogenaemia and factor XIII deficiency. (20345422)
2010
17
Subgaleal hematoma presenting as a manifestation of Factor XIII deficiency. (19255750)
2009
18
Factor XIII deficiency: a differential diagnosis to be considered in suspected nonaccidental injury presenting with intracranial hemorrhage. (18057145)
2008
19
Factor XIII deficiency. (19141159)
2008
20
Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations. (17880458)
2007
21
Congenital factor XIII deficiency in Switzerland: from the worldwide first case in 1960 to its molecular characterisation in 2005. (17594539)
2007
22
A novel compound heterozygous mutation in the F13A gene causing hereditary factor XIII deficiency in a Chinese family. (16409483)
2006
23
Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency. (14695539)
2004
24
Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families. (15456491)
2004
25
Factor XIII deficiency associated with valproate treatment. (14738427)
2004
26
Factor XIII deficiency mistaken for battered child syndrome: case of "correct" test ordering negated by a commonly accepted qualitative test with limited negative predictive value. (12447966)
2002
27
Bleeding risk and reproductive capacity among patients with factor XIII deficiency: a case presentation and review of the literature. (10674253)
2000
28
Factor XIII deficiency and postoperative hemorrhage after neurosurgical procedures. (11118574)
2000
29
Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families. (9241732)
1997
30
Gene defects in congenital factor XIII deficiency. (8989822)
1996
31
Congenital factor XIII deficiency. (8005932)
1993
32
Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. (7918041)
1993
33
Hereditary factor XIII deficiency. (8253495)
1993
34
Factor XIII-deficiency in the blood of venous leg ulcer patients. (1676216)
1991
35
Factor XIII deficiency in adult polycystic kidney disease. (1896103)
1991
36
Factor XIII subunit B deficiency. (2094340)
1990
37
Congenital factor XIII deficiency with treatment of factor XIII concentrate and normal vaginal delivery. (2358199)
1990
38
Clinical experience with a pasteurised human plasma concentrate in factor XIII deficiency. (3388293)
1988
39
Successful pregnancy in a woman with congenital factor XIII deficiency treated with substitutive therapy. Report of a second case. (3607295)
1987
40
Hereditary factor XIII deficiency. (3679479)
1987
41
A contribution to the pathology of acquired plasma factor XIII deficiency. (4071061)
1985
42
Acquired factor XIII deficiency with chronic myelomonocytic leukemia. (6579877)
1983
43
A case of factor XIII deficiency in an adult male. (7130118)
1982
44
Factor XIII deficiency. (7337960)
1981
45
Subunits A and S inheritance in four families with congenital factor XIII deficiency. (638074)
1978
46
Factor XIII deficiency in BALB/c mice with plasmacytoma. (908006)
1977
47
Proceedings: Factor XIII concentrate in the long term management of congenital factor XIII deficiency. (810913)
1975
48
A clinical and family study of factor XIII deficiency in a New Zealand family. (5284554)
1971
49
Factor XIII deficiency. A rare haemorrhagic disease. (5288877)
1971
50
Treatment of factor XIII deficiency with cryoprecipitate. (5710469)
1968

Genetic Variations for Factor Xi Deficiency

Expression for genes affiliated with Factor Xi Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Factor Xi Deficiency

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

Pathways for genes affiliated with Factor Xi Deficiency

Sources:
54Reactome, 50PharmGKB, 52QIAGEN, 53R&D Systems, 38NCBI BioSystems Database, 30KEGG
See all sources

Compounds for genes affiliated with Factor Xi Deficiency

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 29IUPHAR, 2BitterDB, 60Tocris Bioscience
See all sources

Compounds related to Factor Xi Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 145)
idCompoundScoreTop Affiliating Genes
1coumarins4510.2F9, F3
2bivalirudin45 1110.9F2, F3, F5
3warfarin45 50 11 2412.8VWF, F9
4inogatran459.8F5, F3, F2
5ecarin459.7F5, F2, F3
6heparin sodium459.7F3, THBD, F2
7spectrozyme459.7F5, F3, F2
8phosphatidylserine45 29 1111.6F2, F8, F3
9hirugen459.6F2, THBD, F5
10acenocoumarol45 50 1111.6F5, F2, F3, F9
11dextran sulfate459.6F5, F9, F11
12danaparoid459.6F3, F2, F5
13ximelagatran45 1110.5F5, F3, THBD, F2
14heparinoids459.5F3, F2, THBD, F5
15organon459.5F9, F2, F3
16aspartate459.5F2, F7, F8
17argatroban45 1110.4F5, F3, F2, THBD
18coumarin45 2 50 2412.4F9, F3, F2, F5
19ancrod459.4F2, THBD, F5
20levonorgestrel45 60 29 1112.3F2, F3, F7, F5
21fondaparinux459.2F2, F9, F5, F3, THBD
22Coagulation Factor IX119.2F8, F7, F2, F11
23Drotrecogin alfa119.1THBD, F2, F5, F8
24tributylphosphate459.0VWF, F8, F9
25phosphatidylethanolamine45 1110.0F9, F8, F5, F2
26cacl2458.9THBD, F9, F8, F5, F3
27rfviii458.8VWF, F9, F8, F5
28gamma-carboxyglutamic acid458.8THBD, F7, F5, F2, F9, F3
29hydroxyethyl starch458.7F2, VWF, F8, F3
30kaolin458.7F9, F8, F5, F2, F3, F12
31endotoxin458.6F3, F9, THBD, F11, F5, F8
32tranexamic acid45 119.5F9, F2, F8, F3, VWF
33aprotinin45 119.5F9, F3, VWF, THBD, F5, F11
34simvastatin45 50 60 29 11 2413.4F5, THBD, F2, VWF, F3
35acetaminophen45 2 50 11 2412.4F9, VWF, F5, F2, F8
36dermatan sulfate458.2THBD, F2, VWF, F3, F11, F5
37cyclophosphamide45 50 1110.0F5, F3, VWF, F8, F9, THBD
38ristocetin457.9F8, F5, F11, F3, VWF, F2
39citrate457.8VWF, F3, F8, F9, F2, F5
40aspirin45 50 29 2410.7F8, F12, F3, VWF, F2, THBD
41prostacyclin457.7THBD, VWF, F3, F5, F8
42desmopressin45 60 29 1110.6F3, VWF, F11, F5, F8, F9
43homocysteine45 248.5F9, F5, F11, F3, VWF, F2
44hirudin457.5THBD, F2, VWF, F3, F11, F5
45phospholipid457.5F5, F11, F3, VWF, F2, THBD
46kininogen457.3THBD, F2, VWF, F3, F7, F12
47creatinine457.3F7, F9, F5, F3, VWF, F8
48heparin45 29 11 2410.1F12, F11, F3, F2, THBD, VWF
49fibrinogen456.7F2, VWF, F3, F7, F12, F11
50serine456.6F9, F5, F8, F3, F11, F12

GO Terms for genes affiliated with Factor Xi Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Factor Xi Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.4F2, F7, F9
2Golgi lumenGO:0057969.1F2, F7, F9
3platelet alpha granule lumenGO:0310938.6F8, F5, VWF
4extracellular spaceGO:0056157.9F2, F8, F5, F11, F12, F7
5plasma membraneGO:0058867.1F9, F8, F5, F11, F12, F7
6extracellular regionGO:0055767.0F9, F8, F5, F11, F12, F7

Biological processes related to Factor Xi Deficiency according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of fibrinolysisGO:05191910.0F12, F11
2positive regulation of platelet-derived growth factor receptor signaling pathwayGO:0106419.9F7, F3
3negative regulation of platelet activationGO:0105449.8THBD, F2
4positive regulation of positive chemotaxisGO:0509279.7F3, F7
5blood coagulation, extrinsic pathwayGO:0075989.7F9, F7, F3
6peptidyl-glutamic acid carboxylationGO:0171879.7F2, F7, F9
7negative regulation of fibrinolysisGO:0519189.6F2, THBD
8positive regulation of blood coagulationGO:0301949.6F2, F7, F12
9fibrinolysisGO:0427309.5F2, F12
10post-translational protein modificationGO:0436879.4F2, F7, F9
11proteolysisGO:0065089.0F2, F7, F12, F11, F9
12platelet degranulationGO:0025768.8F8, F5, VWF
13platelet activationGO:0301688.5F8, F5, VWF, F2
14blood coagulation, intrinsic pathwayGO:0075978.1F9, F8, F11, F12, VWF, F2
15blood coagulationGO:0075966.6THBD, F9, F8, F5, F11, F12

Molecular functions related to Factor Xi Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type aminopeptidase activityGO:0700099.7F12, F11
2serine-type endopeptidase activityGO:0042528.8F2, F7, F12, F11, F9
3calcium ion bindingGO:0055098.2F9, ITSN2, F7, F2, THBD
4protein bindingGO:0055156.5ITSN2, F5, F11, F12, F3, VWF

Products for genes affiliated with Factor Xi Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor Xi Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet