MCID: FCT005
MIFTS: 39

Factor Xiii Deficiency malady

Rare diseases, Blood diseases categories

Aliases & Classifications for Factor Xiii Deficiency

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 65UMLS, 36MeSH, 51Orphanet, 59SNOMED-CT, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Factor Xiii Deficiency:

Name: Factor Xiii Deficiency 10 45 23 47 12 65 36
Fibrin Stabilizing Factor Deficiency 45 23
Congenital Factor Xiii Deficiency 45 51
Deficiency, Laki-Lorand Factor 10 23
 
Hereditary Factor Xiii Deficiency Disease 10
Fibrin-Stabilizing Factor Deficiency 51
Factor Xiii Deficiency Disease 10
Deficiency of Factor Xiii 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
congenital factor xiii deficiency:
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: All ages


External Ids:

Disease Ontology10 DOID:2211
MeSH36 D005177
SNOMED-CT59 50189006, 18604004
Orphanet51 331
ICD10 via Orphanet28 D68.2

Summaries for Factor Xiii Deficiency

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NIH Rare Diseases:45 Factor xiii deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. in affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. blood may seep into surrounding soft tissues, resulting in local pain and swelling. internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. fxiii deficiency is usually caused by mutations in the f13a1 gene, but mutations have also been found in the f13b gene. it is usually inherited in an autosomal recessive fashion. acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia. last updated: 8/16/2011

MalaCards based summary: Factor Xiii Deficiency, also known as fibrin stabilizing factor deficiency, is related to blood protein disease and myocardial infarction. An important gene associated with Factor Xiii Deficiency is F13A1 (Coagulation Factor XIII, A1 Polypeptide), and among its related pathways are Collagen biosynthesis and modifying enzymes and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include liver, brain and myeloid, and related mouse phenotype homeostasis/metabolism.

Genetics Home Reference:23 Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime.

Wikipedia:68 Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is... more...

Related Diseases for Factor Xiii Deficiency

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

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1blood protein disease30.5F3, F8
2myocardial infarction29.9F13A1, F3, F5, SERPINF2
3factor xiiib deficiency10.4
4greenberg skeletal dysplasia10.4
5factor xiiia deficiency10.4
6coagulation protein disease10.4
7blood coagulation disease10.4
8inherited blood coagulation disease10.4
9nutritional deficiency disease10.4
10vascular hemostatic disease10.4
11factor v leiden thrombophilia10.4
12rheumatoid arthritis10.3
13anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.3
14arthritis10.3
15glomerulonephritis10.3
16cerebritis10.3
17purpura10.3
18protein r deficiency10.3
19thrombasthenia10.2
20immunoglobulin a deficiency 210.2
21child syndrome10.2
22acute myocardial infarction10.2
23chronic myelomonocytic leukemia10.2
24hepatitis10.2
25leukemia10.2
26protein s deficiency10.2
27hepatitis c10.2
28von willebrand's disease10.2
29polycystic kidney disease10.2
30arthropathy10.2
31colitis10.2
32compartment syndrome10.2
33kidney disease10.2
34plasmacytoma10.2
35vaginitis10.2
36vein disease10.2
37cardiac rupture10.2
38cryofibrinogenemia10.2
39factor 2 deficiency10.2
40irritable bowel syndrome10.1F3, SERPINF2
41cervical alveolar soft part sarcoma10.1F3, SERPINF2
42nephropathia epidemica10.1F3, SERPINF2
43congenital chloride diarrhea10.1F3, SERPINF2
44lambert-eaton myasthenic syndrome10.1F3, SERPINF2
45chronic fatigue syndrome10.1F3, SERPINF2
46fowler's syndrome10.1F3, F8
47von willebrand disease, type 110.1F3, F8
48multicentric osteolysis nephropathy10.0F3, F8
49thumb absent short stature immune deficiency10.0F3, F8
50bladder neck cancer10.0F13A1, F5

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



Diseases related to factor xiii deficiency

Symptoms for Factor Xiii Deficiency

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Drugs & Therapeutics for Factor Xiii Deficiency

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Drugs for Factor Xiii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BenzocaineapprovedPhase 315361994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
20/20 Topical Anesthetic
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Alcohol Prep Pads
Allegenal-m
Alpha-caine Topical Anesthetic
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anbesol Jr
Anbesol Maximum Strength
Anbesol Regular Strength
Anestenka
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthetic
Anesthone
Atopalm Oral Pain Relief
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Baby Anestenka
Baby Sensigel
Baby Sensigel Night Time Formula
Baby Teething Oral Pain Reliever
Bactimicina For Sore Throat
Bencocaine Topical Anesthetic
Bensokain
Benz O Sthetic
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzodent
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
Boil Ease
Boy Butter Desensitizing Lubricant
Boy Butter Extreme Desensitizing Lubricant
Boy Butter Extreme H2O Desensitizing Lubricant
Brace Relief
Budpak Baby Teething Oral Pain Reliever
Budpak Oral Maximum Strength
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Carmex Cold Sore Treatment External Analgesic
Caswell No. 430A
Cepacol Fizzlers
Cepacol Sensations Hydra
Cepacol Sensations Sore Throat Hydra citrus splash
Cepacol Sensations Warming
Certus Sting Relief Prep Pad
Chloraseptic
Chloraseptic Warming Sore Throat
Colgate Orabase
Comfortcaine Topical Anesthetic
Cvs Fast Acting Baby Teething
Cvs Maximum Strength
Cvs Maximum Strength Boil Relief
Cvs Oral Anesthetic
Cvs Pharmacy Instant Toothache
Cvs Pharmacy Maximum Strength
Cvs Pharmacy Mouth Sore Gel
Cvs Pharmacy Nighttime Oral Pain Relief
D001566
D00552
DB01086
Dental Relief
Dentek Instant Pain Relief Maximum Strength
Dermoplast
Diet Ayds
DivK1c_000932
Dollar General Toothache Relief
Dukal Sting Relief Pad
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Finafta Baby
Finafta MultiOral
Formate, Benzocaine
Gelato Topical Anesthetic
Good Neighbor Pain Relief
Goodsense Oral Pain Relief
Gps Topical Anesthetic
Gumnumb Topical Anesthetic
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Heb Severe Toothache
Herbasoul Male Genital Desensitizer Cream
 
Hurricaine
Hurricaine Topical Anesthetic
Hurricaine Topical Anesthetic Gel
Hurricaine Topical Anesthetic Liquid
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
Insect Bite Relief
Instant Toothache Pain Relief
Intense Cvs Intense Toothache
Iodent Maximum Strength Oral Analgesic
Ismile Topical Anesthetic
Jianze Sting Relief Pads
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Kank-a Mouth Pain
Keloform
Kmart Smart Sense
Kroger Toothache Pain Relief
LS-35847
Leader Oral Analgesic
Little Colds Sore Throat Relief Melt Aways
MLS001331704
MLS002153970
Makesense Junior Pain Relief
Makesense Pain Relief
Male Desensitizer Pleasure Balm
Mandelay Male Genital Desensitizer
Mark 3
Methanesulfonate, Benzocaine
MolPort-000-871-526
Mouth Sore Medication
Mouth Sore Relief Applicator
Mouth Sore Relief Professional Strength
My Fair Baby Instant Pain Relief
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Nene Dente
Norcain
Norcaine
Norcainum
Opahl
Opahl Dye Free
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orajel For All Mouth Sores Maximum Strength
Orajel For Cold Sores
Orajel For Toothache Maximum Strength
Orajel Instant Pain Relief Maximum Strength
Orajel Instant Pain Relief Regular Strength
Orajel Instant Relief For Teething Pain
Orajel Instant Relief For Teething Pain Cooling Cucumber
Orajel Instant Relief For Teething Pain Daytime Nighttime Twin Pack
Orajel Instant Relief For Teething Pain Longer Lasting
Orajel Maximum Strength
Orajel Nighttime Instant Relief For Teething Pain Longer Lasting Extra Strength
Orajel Severe Toothache Maximum Strength Fast-Acting Formula
Oral Analgesic Maximum Strength
Oral B Instant Pain Relief
Oral Gel Maximum Strength
Oral Pain Relief Anesthetic Anesthetic
Oral Pain Reliever
Oralabs Cold Sore Treatment
Orthesin
Otocain
Outgro
Pac-dent Top Gel
Pain Relief
Pain Relief Alcohol Swabs
Parathesin
Parathesin (TN)
Parathesine
Physicians Care Sting Relief Pad
Pleasure Balm Kama Sutra
Preboost
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
Purelife Topical Anesthetic
Quality Choice Maximum Strength Oral Pain Relieving
Red Cross Oral Pain Relief
Rexall Maximum Strength
Rite Aid Baby Care
Rite Aid Liquid Anesthetic Oral Pain Relief
Rite Aid Maximum Strength
Rite Aid Oral Pain Reliever
Rite Aid Professional Strength
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Sally Hansen Ouch-relief Numbing Wipes
Sally Hansen Ouch-relief Wax Kit
Sally Hansen Ouch-relief Wax Strip Kit
Sensigel
Severe Oral Pain Reliever
Sheffield Baby Teething Gel
Sheffield Pain Relief
Shunga Male Genital Desensitizer
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Sting Relief Medicated Pad
Sting Relief Pads
Tanac
Terrasil Boil Pain Relief
Tiger Supply Inc Topical Anesthetic
Top Quality Mfg. Topical Anesthetic
Topcaine
Topcare Maximum Strength
Topical Anesthetic Banana
Topical Anesthetic Bubble Gum
Topical Anesthetic Cherry
Topical Anesthetic Mint
Topical Anesthetic Pina Colada
Topical Anesthetic Raspberry
Topical Anesthetic Strawberry
UNII-U3RSY48JW5
Ultracare Anesthetic Bubble Gum
Ultracare Anesthetic Butter Rum
Ultracare Anesthetic Creme de Menthe
Ultracare Anesthetic Pina Colada
Ultracare Anesthetic Walterberry
WLN: ZR DVO2
Walgreens Baby Teething
Walgreens Intense Toothache
Walgreens Maximum Strength
Walgreens Pain Relieving For Boils
Walgreens Severe Oral Pain Reliever
Walgreens Severe Toothache Relief
Winco Foods Maximum Strength Oral Analgesic
ZINC12358719
Zilactin-b
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
2
FibrinolysinapprovedPhase 3, Phase 2239001-90-5
Synonyms:
Bovine Fibrinolysin
 
Bovine Plasmin
Plasmin
3tannic acidNutraceuticalPhase 31536

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1A Study of Factor XIII Concentrate in Subjects With Congenital Factor XIII DeficiencyCompletedNCT00885742Phase 3
2An Open Enrollment Study of Factor XIII Concentrate in Subjects With Congenital Factor XIII DeficiencyCompletedNCT00945906Phase 3
3Safety of Monthly Recombinant Factor XIII Replacement Therapy in Subjects With Congenital Factor XIII Deficiency: An Extension to Trial F13CD-1725CompletedNCT00978380Phase 3
4Evaluation of Recombinant Factor XIII for Prevention of Bleeding in Patients With FXIII Inherited DeficiencyCompletedNCT00713648Phase 3
5Safety and Efficacy of Monthly Replacement Therapy With Recombinant Factor XIII (rFXIII) in Paediatric Subjects With Congenital Factor XIII A-subunit DeficiencyCompletedNCT01253811Phase 3
6Safety of a Single Intravenous Dose of Recombinant Factor XIII in Children With Congenital FXIII A-subunit DeficiencyCompletedNCT01230021Phase 3
7A Study of the Use of Factor XIII Concentrate in Patients With Inherited FXIII DeficiencyCompletedNCT00883090Phase 2
8Safety and Pharmacokinetics of Recombinant Factor XIII in Patients With Congenital Factor Xlll DeficiencyCompletedNCT00056589Phase 1
9Comparison of a Blood Clotting Drug (Recombinant Factor XIII) Produced by Two Different Manufacturers in Healthy Male SubjectsCompletedNCT01082406Phase 1
10Safety and Pharmacokinetics of Recombinant Factor XIII in Healthy VolunteersCompletedNCT01847989Phase 1
11Safety and Pharmacokinetics of Recombinant Factor XIII Administration in Healthy VolunteersCompletedNCT01848002Phase 1
12Clinical Trial of Factor XIII (FXIII) ConcentrateCompletedNCT00640289
13Factor XIII and Pulmonary Embolism in Neurosurgical PatientsRecruitingNCT01106937
14Wound Healing Abnormalities in Major Abdominal SurgeryRecruitingNCT00735579
15Use of rFXIII in Treatment of Congenital FXIII Deficiency, a Prospective Multi-centre Observational StudyEnrolling by invitationNCT01862367
16A Study of Safety and Effectiveness of NovoThirteen® (rFXIII) During Treatment of Congenital FXIII Deficiency in JapanNot yet recruitingNCT02670213

Search NIH Clinical Center for Factor Xiii Deficiency


Cochrane evidence based reviews: Factor XIII Deficiency

Genetic Tests for Factor Xiii Deficiency

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Anatomical Context for Factor Xiii Deficiency

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MalaCards organs/tissues related to Factor Xiii Deficiency:

33
Liver, Brain, Myeloid, Testes, Breast, Kidney, Spleen

Animal Models for Factor Xiii Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Factor Xiii Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.2CPB2, F13A1, F3, F5, F8, SERPINF2

Publications for Factor Xiii Deficiency

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Articles related to Factor Xiii Deficiency:

(show top 50)    (show all 207)
idTitleAuthorsYear
1
Effect of Social Factors on the Highest Global Incidence of Congenital Factor XIII Deficiency in Southeast of Iran. (26155604)
2015
2
Fibrinogen but not factor XIII deficiency is associated with bleeding after craniotomy. (24871873)
2014
3
Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency. (25004025)
2014
4
Diagnosis and management of severe congenital factor XIII deficiency in the Emergency Department: lessons from a &quot;model&quot; family. (25369590)
2014
5
Acquired factor XIII deficiency: still a clinical challenge in the era of novel therapy. (24354481)
2014
6
Factor XIII deficiency management: a review of the literature. (24401950)
2014
7
Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. (22928875)
2013
8
Recurrent Spontaneous Splenic Rupture in a Patient With Congenital Factor XIII Deficiency. (24351968)
2013
9
Relevant bleeding diathesis due to acquired factor XIII deficiency. (24169946)
2013
10
Successful use of recombinant factor VIIa in a child with Schoenlein-Henoch purpura presenting with compartment syndrome and severe factor XIII deficiency. (23103728)
2013
11
Post-infectious acute glomerulonephritis and transient coagulation factor XIII deficiency associated with acute parvovirus B19 infection in a young woman. (23683878)
2013
12
Post-infectious acute glomerulonephritis and transient coagulation factor XIII deficiency associated with acute parvovirus B19 infection in a young woman--reply. (23683879)
2013
13
Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency. (21812861)
2012
14
Reduced difference of I+a88-plasmin inhibitor levels between plasma and serum in patients with severe factor XIII deficiency, including autoimmune hemorrhaphilia due to anti-factor XIII antibodies. (22205503)
2012
15
Posttraumatic subgaleal and orbital hematoma due to factor XIII deficiency. (21284470)
2011
16
Successful long-term replacement therapy with FXIII concentrate (Fibrogammin(Ar) P) for severe congenital factor XIII deficiency: a prospective multicentre study. (21481176)
2011
17
Induction of hemodialysis therapy in a case with factor XIII deficiency. (21710188)
2011
18
Factor XIII deficiency as a potential cause of supratentorial haemorrhage after posterior fossa surgery. (19557304)
2010
19
Factor XIII deficiency: report of two cases. (21189773)
2010
20
Subgaleal hematoma presenting as a manifestation of Factor XIII deficiency. (19255750)
2009
21
Congenital blood coagulation factor XIII deficiency and successful deliveries: a review of the literature. (17371605)
2007
22
Cerebral thrombosis associated with heterozygous factor V Leiden mutation and high lipoprotein(a) level in a girl with factor XIII deficiency. (17473580)
2007
23
Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. (16556896)
2006
24
Prophylactic and perioperative replacement therapy for acquired factor XIII deficiency: reply to a rebuttal. (15634290)
2005
25
Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. (16330458)
2005
26
Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency. (14695539)
2004
27
Factor XIII deficiency in south-east Iran. (15357772)
2004
28
Pattern of symptoms in 93 Iranian patients with severe factor XIII deficiency. (12911609)
2003
29
Bleeding risk and reproductive capacity among patients with factor XIII deficiency: a case presentation and review of the literature. (10674253)
2000
30
Arg260-Cys mutation in severe factor XIII deficiency: conformational change of the A subunit is predicted by molecular modelling and mechanics. (9609521)
1998
31
Factor concentrates for the treatment of factor XIII deficiency. (9814641)
1998
32
Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families. (9241732)
1997
33
ETRO Working Party on Factor XIII questionnaire on congenital factor XIII deficiency in Europe: status and perspectives. Study Group. (8989825)
1996
34
Factor XIII deficiency: pathogenic mechanisms and clinical significance. (8989826)
1996
35
Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. (8555083)
1995
36
Congenital factor XIII deficiency. (8005932)
1993
37
Factor XIII deficiency in Pakistan. (8230654)
1993
38
Congenital factor XIII deficiency. A family report. (1816054)
1991
39
Factor XIII-deficiency in the blood of venous leg ulcer patients. (1676216)
1991
40
Congenital factor XIII deficiency: two case reports. (1938825)
1991
41
Factor XIII deficiency and intracranial hemorrhages in infancy. (2206163)
1990
42
Congenital factor XIII deficiency with multiple benign breast tumours and successful pregnancy with substitutive therapy. A case report. (2620871)
1989
43
Congenital factor XIII deficiency: type I and type II disease. (4005184)
1985
44
Factor XIII levels in five families of patients with inherited factor XIII deficiency: support for an autosomal recessive inheritance. (6636036)
1983
45
Studies on factor XIII antigen in congenital factor XIII deficiency. A tentative classification of the disease in two groups. (77814)
1978
46
Congenital factor XIII deficiency. (610333)
1977
47
Platelet aggregation in congenital factor XIII deficiency. (826089)
1976
48
Rheological properties of fibrin clots. Effects of fibrinogen concentration, Factor XIII deficiency, and Factor XIII inhibition. (1176815)
1975
49
Documentation of the plasma factor XIII deficiency in man. (4508922)
1972
50
Blood factor XIII deficiency: review of literature and report of case. (4935503)
1971

Variations for Factor Xiii Deficiency

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Clinvar genetic disease variations for Factor Xiii Deficiency:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1F13BF13B, 1-BP DEL, IVS1AS, A, -2deletionPathogenic
2F13BNM_001994.2(F13B): c.1349G> T (p.Cys450Phe)single nucleotide variantPathogenicrs121913075GRCh37Chr 1, 197024850: 197024850
3F13BF13B, 3-BP INS, AACinsertionPathogenic
4F13BNM_001994.2(F13B): c.1498delG (p.Glu500Asnfs)deletionPathogenicrs797044453GRCh38Chr 1, 197052691: 197052691
5F13A1F13A1, 2-BP DEL, 210AGdeletionPathogenic
6F13A1NM_000129.3(F13A1): c.2045G> A (p.Arg682His)single nucleotide variantPathogenicrs121913064GRCh37Chr 6, 6152046: 6152046
7F13A1NM_000129.3(F13A1): c.514C> T (p.Arg172Ter)single nucleotide variantPathogenicrs121913065GRCh37Chr 6, 6266848: 6266848
8F13A1NM_000129.3(F13A1): c.1326C> A (p.Tyr442Ter)single nucleotide variantPathogenicrs121913066GRCh37Chr 6, 6182354: 6182354
9F13A1NM_000129.3(F13A1): c.183C> A (p.Asn61Lys)single nucleotide variantPathogenicrs121913067GRCh37Chr 6, 6305720: 6305720
10F13A1NM_000129.3(F13A1): c.1504G> A (p.Gly502Arg)single nucleotide variantPathogenicrs121913068GRCh37Chr 6, 6175056: 6175056
11F13A1NM_000129.3(F13A1): c.1687G> A (p.Gly563Arg)single nucleotide variantPathogenicrs121913069GRCh37Chr 6, 6174873: 6174873
12F13A1NM_000129.3(F13A1): c.1243G> T (p.Val415Phe)single nucleotide variantPathogenicrs121913070GRCh37Chr 6, 6196092: 6196092
13F13A1NM_000129.3(F13A1): c.782G> A (p.Arg261His)single nucleotide variantPathogenicrs121913071GRCh37Chr 6, 6248561: 6248561
14F13A1NM_000129.3(F13A1): c.980G> A (p.Arg327Gln)single nucleotide variantPathogenicrs121913072GRCh37Chr 6, 6222398: 6222398
15F13A1NM_000129.3(F13A1): c.949G> T (p.Val317Phe)single nucleotide variantPathogenicrs121913073GRCh37Chr 6, 6224943: 6224943
16F13A1NM_000129.3(F13A1): c.851A> G (p.Tyr284Cys)single nucleotide variantPathogenicrs121913074GRCh37Chr 6, 6225041: 6225041
17F13A1F13A1, 1-BP INS, 1286CinsertionPathogenic
18F13A1F13A1, IVS5AS, G-A, -1single nucleotide variantPathogenic
19F13A1NM_000129.3(F13A1): c.2110C> T (p.Arg704Trp)single nucleotide variantPathogenicrs267606787GRCh37Chr 6, 6145941: 6145941
20F13A1NM_000129.3(F13A1): c.1984C> T (p.Arg662Ter)single nucleotide variantPathogenicrs267606789GRCh37Chr 6, 6152107: 6152107
21F13A1NM_000129.3(F13A1): c.728T> C (p.Met243Thr)single nucleotide variantPathogenicrs267606788GRCh37Chr 6, 6248615: 6248615
22F13A1F13A1, 4-BP DEL, 602AAAGdeletionPathogenic
23F13A1NM_000129.3(F13A1): c.-19+12A=single nucleotide variantPathogenicrs2815822GRCh37Chr 6, 6320808: 6320808

Expression for genes affiliated with Factor Xiii Deficiency

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

Pathways for genes affiliated with Factor Xiii Deficiency

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GO Terms for genes affiliated with Factor Xiii Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1ER to Golgi transport vesicleGO:003013410.0F5, F8
2endoplasmic reticulum-Golgi intermediate compartment membraneGO:003311610.0F5, F8
3platelet alpha granule lumenGO:00310939.2F13A1, F5, F8, SERPINF2
4extracellular regionGO:00055767.9F13A1, F13B, F5, F8, SERPINF2
5extracellular spaceGO:00056157.5CPB2, F3, F5, F8, SERPINF2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of plasminogen activationGO:00107579.9CPB2, SERPINF2
2fibrinolysisGO:00427309.8CPB2, SERPINF2
3acute-phase responseGO:00069539.8F8, SERPINF2
4negative regulation of fibrinolysisGO:00519189.8CPB2, SERPINF2
5COPII vesicle coatingGO:00482089.8F5, F8
6platelet degranulationGO:00025769.0F13A1, F5, F8, SERPINF2
7platelet activationGO:00301688.6F13A1, F5, F8, SERPINF2
8blood coagulationGO:00075966.4CPB2, F13A1, F13B, F3, F5, F8

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.5F5, F8
2protease bindingGO:00020209.2F3, SERPINF2

Sources for Factor Xiii Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet