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encyclopedia of Rare Disease Annotation for Precision Medicine



   congenital factor xi deficiency
  

Disease ID 112
Disease congenital factor xi deficiency
Definition
A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia.
Synonym
c hemophilia
cong factor xi disorder
congenital factor xi deficiency disease
defic factor xi
deficiencies, factor xi
deficiency, factor xi
f11 deficiency
factor xi defic
factor xi deficiencies
factor xi deficiency
factor xi deficiency [disease/finding]
haemophilia c
hemophilia c
hereditary factor xi deficiency
hereditary factor xi deficiency disease
hereditary factor xi deficiency disease (disorder)
plasma thromboplastin antecedent deficiency
pta deficiency
reduced factor xi activity
rosenthal syndrome
rosenthal syndromes
rosenthal's disease
rosenthal's syndrome
rosenthal's syndromes
rosenthals syndrome
syndrome, rosenthal
syndrome, rosenthal's
thromboplastin antecedent deficiency
Orphanet
OMIM
DOID
ICD10
UMLS
C0015523
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:23)
C0040053  |  thrombosis  |  2
C0016436  |  folliculitis  |  1
C0022660  |  acute renal failure  |  1
C0154733  |  multiple cranial nerve palsies  |  1
C0015464  |  facial palsy  |  1
C0013080  |  trisomy 21  |  1
C0028768  |  obsessive-compulsive disorder  |  1
C0018924  |  hemarthrosis  |  1
C0040147  |  thyroiditis  |  1
C0008533  |  haemophilia b  |  1
C0677607  |  hashimoto thyroiditis  |  1
C0019069  |  haemophilia  |  1
C0003872  |  psoriatic arthritis  |  1
C0019069  |  hemophilia  |  1
C0019069  |  factor viii deficiency  |  1
C0003864  |  arthritis  |  1
C0040412  |  lingua plicata  |  1
C0242379  |  lung cancer  |  1
C0037315  |  sleep apnea  |  1
C0018924  |  haemarthrosis  |  1
C0334121  |  inflammatory pseudotumor  |  1
C0520679  |  obstructive sleep apnea  |  1
C0022408  |  arthropathy  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
2160  |  F11  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
2160  |  F11  |  CIPHER;CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:26)
79969  |  ATAT1  |  2.444  |  DISEASES
831  |  CAST  |  1.305  |  DISEASES
959  |  CD40LG  |  1.777  |  DISEASES
1363  |  CPE  |  1.029  |  DISEASES
1369  |  CPN1  |  1.246  |  DISEASES
28514  |  DLL1  |  1.732  |  DISEASES
30816  |  ERVW-1  |  1.766  |  DISEASES
2159  |  F10  |  1.142  |  DISEASES
2160  |  F11  |  6.965  |  DISEASES
2152  |  F3  |  5.126  |  DISEASES
2155  |  F7  |  5.319  |  DISEASES
2157  |  F8  |  5.7  |  DISEASES
2533  |  FYB  |  1.824  |  DISEASES
2673  |  GFPT1  |  1.057  |  DISEASES
2811  |  GP1BA  |  1.78  |  DISEASES
50618  |  ITSN2  |  1.25  |  DISEASES
9622  |  KLK4  |  1.016  |  DISEASES
9436  |  NCR2  |  1.525  |  DISEASES
4942  |  OAT  |  1.749  |  DISEASES
6406  |  SEMG1  |  1.881  |  DISEASES
462  |  SERPINC1  |  2.182  |  DISEASES
6654  |  SOS1  |  1.065  |  DISEASES
10250  |  SRRM1  |  2.083  |  DISEASES
6916  |  TBXAS1  |  1.003  |  DISEASES
9652  |  TTC37  |  2.083  |  DISEASES
23038  |  WDTC1  |  2.033  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
F11  |  4q35.2
Disease ID 112
Disease congenital factor xi deficiency
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:9)
HP:0001892  |  Abnormal bleeding
HP:0005261  |  Joint hemorrhage
HP:0000132  |  Menorrhagia
HP:0002239  |  Gastrointestinal hemorrhage
HP:0000421  |  Epistaxis
HP:0003645  |  Prolonged partial thromboplastin time
HP:0010989  |  Abnormality of the intrinsic pathway
HP:0006298  |  Prolonged bleeding after dental extraction
HP:0001929  |  Reduced factor XI activity
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:24)
Disease ID 112
Disease congenital factor xi deficiency
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C0019080  |  hemorrhage
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0018924  |  hemarthrosis  |  1
C0019080  |  hemorrhage  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:76)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121965063NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186274193GT
rs12196506415473422160F11umls:C0015523UNIPROTExpression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency.0.5865189341992F114186280258TC
rs121965064NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186280258TC
rs12196506576696722160F11umls:C0015523UNIPROTIdentification of two novel mutations in non-Jewish factor XI deficiency.0.5865189341995F11;F11-AS14186285711TG
rs121965065NA2160F11umls:C0015523CLINVARNA0.586518934NAF11;F11-AS14186285711TG
rs121965066NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186274228CA
rs121965067NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186284167CA
rs12196506794010682160F11umls:C0015523UNIPROTSevere factor XI deficiency in an Arab family associated with a novel mutation in exon 11.0.5865189341997F114186284167CA
rs121965068159530112160F11umls:C0015523UNIPROTGenetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.0.5865189342005F114186284245CT
rs121965068NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186284245CT
rs121965069NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186271719TC
rs121965069221594562160F11umls:C0015523UNIPROTRevisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).0.5865189342012F114186271719TC
rs121965070151808742160F11umls:C0015523UNIPROTSevere factor XI deficiency caused by compound heterozygosity.0.5865189342004F114186280065AT
rs121965070NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186280065AT
rs121965071150263112160F11umls:C0015523UNIPROTDominant factor XI deficiency caused by mutations in the factor XI catalytic domain.0.5865189342004F114186284209GA,T
rs121965071NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186284209GA,T
rs121965072150263112160F11umls:C0015523UNIPROTDominant factor XI deficiency caused by mutations in the factor XI catalytic domain.0.5865189342004F11;F11-AS14186288496GC
rs139695003159530112160F11umls:C0015523UNIPROTGenetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.0.5865189342005F11;F11-AS14186287720CA,T
rs140068026180051512160F11umls:C0015523UNIPROTSeven novel point mutations in the F11 gene in Iranian FXI-deficient patients.0.5865189342008F11;F11-AS14186286441TA,C
rs143648758NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186274198CA
rs14516835197871682160F11umls:C0015523UNIPROTIdentification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.0.5865189341998F114186280053GA
rs281875241219998182160F11umls:C0015523UNIPROTA cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy.0.5865189342012F11;F11-AS14186285694TA
rs281875242223221332160F11umls:C0015523UNIPROTIdentification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency.0.5865189342012F11;F11-AS14186285775TG
rs281875243221594562160F11umls:C0015523UNIPROTRevisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).0.5865189342012F114186271704AC
rs281875244221594562160F11umls:C0015523UNIPROTRevisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).0.5865189342012F114186271741CT
rs281875245221594562160F11umls:C0015523UNIPROTRevisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).0.5865189342012F114186276299GA,T
rs281875246221594562160F11umls:C0015523UNIPROTRevisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).0.5865189342012F114186276318GA,T
rs281875247221594562160F11umls:C0015523UNIPROTRevisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).0.5865189342012F114186280083CG
rs281875248221594562160F11umls:C0015523UNIPROTRevisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).0.5865189342012F114186280086GA
rs281875249221594562160F11umls:C0015523UNIPROTRevisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).0.5865189342012F11;F11-AS14186286475GT
rs281875250221594562160F11umls:C0015523UNIPROTRevisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).0.5865189342012F11;F11-AS14186288460CT
rs281875251221594562160F11umls:C0015523UNIPROTRevisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).0.5865189342012F11;F11-AS14186288525GA
rs281875252180051512160F11umls:C0015523UNIPROTSeven novel point mutations in the F11 gene in Iranian FXI-deficient patients.0.5865189342008F114186271705CT
rs281875253180051512160F11umls:C0015523UNIPROTSeven novel point mutations in the F11 gene in Iranian FXI-deficient patients.0.5865189342008F114186280349CT
rs281875254180051512160F11umls:C0015523UNIPROTSeven novel point mutations in the F11 gene in Iranian FXI-deficient patients.0.5865189342008F114186280524TC
rs281875255180051512160F11umls:C0015523UNIPROTSeven novel point mutations in the F11 gene in Iranian FXI-deficient patients.0.5865189342008F11;F11-AS14186288558TC
rs281875256166070842160F11umls:C0015523UNIPROTIdentification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.0.5865189342006F114186274209GA
rs281875257166070842160F11umls:C0015523UNIPROTIdentification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.0.5865189342006F114186280300GA
rs281875258220166852160F11umls:C0015523UNIPROTA novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.0.5865189342011F11;F11-AS14186286451AG
rs281875258220166852160F11umls:C0015523BeFreeA novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.0.5865189342011F11;F11-AS14186286451AG
rs281875259216684372160F11umls:C0015523UNIPROTPopulation-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.0.5865189342012F114186271647GA
rs281875260216684372160F11umls:C0015523UNIPROTPopulation-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.0.5865189342012F114186276390GC
rs281875261216684372160F11umls:C0015523UNIPROTPopulation-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.0.5865189342012F114186271712CA
rs281875262216684372160F11umls:C0015523UNIPROTPopulation-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.0.5865189342012F114186284157TC
rs281875263216684372160F11umls:C0015523UNIPROTPopulation-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.0.5865189342012F11;F11-AS14186287685CG
rs281875264214574052160F11umls:C0015523UNIPROTThree dominant-negative mutations in factor XI-deficient patients.0.5865189342011F114186271680GA
rs281875265214574052160F11umls:C0015523UNIPROTThree dominant-negative mutations in factor XI-deficient patients.0.5865189342011F114186276358CG
rs281875266214574052160F11umls:C0015523UNIPROTThree dominant-negative mutations in factor XI-deficient patients.0.5865189342011F114186284163GA,T
rs28187526778886722160F11umls:C0015523UNIPROTSix point mutations that cause factor XI deficiency.0.5865189341995F114186271653GC
rs28187526878886722160F11umls:C0015523UNIPROTSix point mutations that cause factor XI deficiency.0.5865189341995F114186280316TC
rs28187526978886722160F11umls:C0015523UNIPROTSix point mutations that cause factor XI deficiency.0.5865189341995F114186280322CT
rs28187527078886722160F11umls:C0015523UNIPROTSix point mutations that cause factor XI deficiency.0.5865189341995F114186280378GA,T
rs281875271159530112160F11umls:C0015523UNIPROTGenetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.0.5865189342005F114186271690GT
rs281875272159530112160F11umls:C0015523UNIPROTGenetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.0.5865189342005F114186273154AG
rs281875273159530112160F11umls:C0015523UNIPROTGenetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.0.5865189342005F114186274242AG
rs281875274159530112160F11umls:C0015523UNIPROTGenetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.0.5865189342005F114186280044GA
rs281875275159530112160F11umls:C0015523UNIPROTGenetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.0.5865189342005F11;F11-AS14186287800GA
rs281875276159530112160F11umls:C0015523UNIPROTGenetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.0.5865189342005F11;F11-AS14186288589TG
rs281875277118957782160F11umls:C0015523UNIPROTFactor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.0.5865189342002F114186280020GA
rs281875278118957782160F11umls:C0015523UNIPROTFactor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.0.5865189342002F11;F11-AS14186286465TC
rs281875279100277102160F11umls:C0015523UNIPROTIdentification of a novel mutation in a non-Jewish factor XI deficient kindred.0.5865189341999F114186276373GA,C
rs28934608106068812160F11umls:C0015523UNIPROTTo determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency.0.5865189341999F114186280333CT
rs28934608NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186280333CT
rs28934609106068812160F11umls:C0015523UNIPROTTo determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency.0.5865189341999F11;F11-AS14186288518CA
rs747702749NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186276365CT
rs752907087NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186276317CT
rs754087775NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186276386CT
rs756908183NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186274190CT
rs768409400NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186271620CT
rs768474112NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186273177GA
rs771896253NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186284142CT
rs773905328NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186280552CA
rs786204429NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186280520A-
rs786204449NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186280318TG-
rs786204722NA2160F11umls:C0015523CLINVARNA0.586518934NAF114186280265G-
rs786204724NA2160F11umls:C0015523CLINVARNA0.586518934NAF11;F11-AS14186285646CA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:5)
HP ID HP Name MP ID MP Name Annotation
HP:0005261Joint hemorrhageMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0003645Prolonged partial thromboplastin timeMP:0012359increased partial thromboplastin timeincreased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways
HP:0001892Abnormal bleedingMP:0005606increased bleeding timegreater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
HP:0002239Gastrointestinal hemorrhageMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0006298Prolonged bleeding after dental extractionMP:0005606increased bleeding timegreater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
Mapped by homologous gene(Total Items:9)
HP ID HP Name MP ID MP Name Annotation
HP:0000132MenorrhagiaMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0000421EpistaxisMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0005261Joint hemorrhageMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0001929Reduced factor XI activityMP:0013504increased embryonic tissue cell apoptosisincrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0010989Abnormality of the intrinsic pathwayMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0006298Prolonged bleeding after dental extractionMP:0005606increased bleeding timegreater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
HP:0001892Abnormal bleedingMP:0020138delayed bone mineralizationlate onset of the process by which minerals are deposited into bone
HP:0002239Gastrointestinal hemorrhageMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0003645Prolonged partial thromboplastin timeMP:0020215impaired blood coagulationimpaired ability of the blood to clot
Disease ID 112
Disease congenital factor xi deficiency
Case(Waiting for update.)