PedAM

Pediatric Disease Annotations & Medicines


	hemophilia c

Disease ID	477
Disease	hemophilia c
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 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 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	ORPHANET:329
OMIM	OMIM:612416
DOID	DOID:2229
ICD10	ICD10CM:D68.1
UMLS	C0015523
MeSH	D005173
SNOMED-CT	SNOMEDCT_US_2016_09_01:49762007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0019069 \| factor viii deficiency \| 1 C0019069 \| hemophilia \| 1 C0334121 \| inflammatory pseudotumor \| 1 C0018924 \| hemarthrosis \| 1 C0022660 \| acute renal failure \| 1 C0022408 \| arthropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) F11 \| 2160 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2160 \| F11 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:50) 920 \| CD4 \| DISEASES 1361 \| CPB2 \| DISEASES 2158 \| F9 \| DISEASES 5327 \| PLAT \| DISEASES 973 \| CD79A \| DISEASES 4057 \| LTF \| DISEASES 7035 \| TFPI \| DISEASES 2161 \| F12 \| DISEASES 9945 \| GFPT2 \| DISEASES 7450 \| VWF \| DISEASES 3690 \| ITGB3 \| DISEASES 6929 \| TCF3 \| DISEASES 3818 \| KLKB1 \| DISEASES 3827 \| KNG1 \| DISEASES 2028 \| ENPEP \| DISEASES 3700 \| ITIH4 \| DISEASES 7356 \| SCGB1A1 \| DISEASES 925 \| CD8A \| DISEASES 1234 \| CCR5 \| DISEASES 178 \| AGL \| DISEASES 353514 \| LILRA5 \| DISEASES 133418 \| EMB \| DISEASES 2147 \| F2 \| DISEASES 9377 \| COX5A \| DISEASES 9622 \| KLK4 \| DISEASES 10250 \| SRRM1 \| DISEASES 79969 \| ATAT1 \| DISEASES 2811 \| GP1BA \| DISEASES 2152 \| F3 \| DISEASES 50618 \| ITSN2 \| DISEASES 9652 \| TTC37 \| DISEASES 2157 \| F8 \| DISEASES 2673 \| GFPT1 \| DISEASES 23038 \| WDTC1 \| DISEASES 28514 \| DLL1 \| DISEASES 462 \| SERPINC1 \| DISEASES 4942 \| OAT \| DISEASES 1369 \| CPN1 \| DISEASES 959 \| CD40LG \| DISEASES 6406 \| SEMG1 \| DISEASES 9436 \| NCR2 \| DISEASES 2159 \| F10 \| DISEASES 2155 \| F7 \| DISEASES 831 \| CAST \| DISEASES 6654 \| SOS1 \| DISEASES 2160 \| F11 \| DISEASES 1363 \| CPE \| DISEASES 6916 \| TBXAS1 \| DISEASES 30816 \| ERVW-1 \| DISEASES 2533 \| FYB \| DISEASES
Locus	(Waiting for update.)

Disease ID	477
Disease	hemophilia c
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0012531 \| Pain \| 2 HP:0005261 \| Joint hemorrhage \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0003040 \| Arthropathy \| 1

Disease ID	477
Disease	hemophilia c
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0018924 \| hemarthrosis \| 1

Manually Genotype(Total Text Mining 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
rs121965063	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186274193	G	T
rs121965064	1547342	2160	F11	umls:C0015523	UNIPROT	Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency.	0.586518934	1992	F11	4	186280258	T	C
rs121965064	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186280258	T	C
rs121965065	7669672	2160	F11	umls:C0015523	UNIPROT	Identification of two novel mutations in non-Jewish factor XI deficiency.	0.586518934	1995	F11;F11-AS1	4	186285711	T	G
rs121965065	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11;F11-AS1	4	186285711	T	G
rs121965066	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186274228	C	A
rs121965067	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186284167	C	A
rs121965067	9401068	2160	F11	umls:C0015523	UNIPROT	Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11.	0.586518934	1997	F11	4	186284167	C	A
rs121965068	15953011	2160	F11	umls:C0015523	UNIPROT	Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.	0.586518934	2005	F11	4	186284245	C	T
rs121965068	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186284245	C	T
rs121965069	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186271719	T	C
rs121965069	22159456	2160	F11	umls:C0015523	UNIPROT	Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).	0.586518934	2012	F11	4	186271719	T	C
rs121965070	15180874	2160	F11	umls:C0015523	UNIPROT	Severe factor XI deficiency caused by compound heterozygosity.	0.586518934	2004	F11	4	186280065	A	T
rs121965070	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186280065	A	T
rs121965071	15026311	2160	F11	umls:C0015523	UNIPROT	Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.	0.586518934	2004	F11	4	186284209	G	A,T
rs121965071	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186284209	G	A,T
rs121965072	15026311	2160	F11	umls:C0015523	UNIPROT	Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.	0.586518934	2004	F11;F11-AS1	4	186288496	G	C
rs139695003	15953011	2160	F11	umls:C0015523	UNIPROT	Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.	0.586518934	2005	F11;F11-AS1	4	186287720	C	A,T
rs140068026	18005151	2160	F11	umls:C0015523	UNIPROT	Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.	0.586518934	2008	F11;F11-AS1	4	186286441	T	A,C
rs143648758	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186274198	C	A
rs145168351	9787168	2160	F11	umls:C0015523	UNIPROT	Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.	0.586518934	1998	F11	4	186280053	G	A
rs281875241	21999818	2160	F11	umls:C0015523	UNIPROT	A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy.	0.586518934	2012	F11;F11-AS1	4	186285694	T	A
rs281875242	22322133	2160	F11	umls:C0015523	UNIPROT	Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency.	0.586518934	2012	F11;F11-AS1	4	186285775	T	G
rs281875243	22159456	2160	F11	umls:C0015523	UNIPROT	Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).	0.586518934	2012	F11	4	186271704	A	C
rs281875244	22159456	2160	F11	umls:C0015523	UNIPROT	Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).	0.586518934	2012	F11	4	186271741	C	T
rs281875245	22159456	2160	F11	umls:C0015523	UNIPROT	Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).	0.586518934	2012	F11	4	186276299	G	A,T
rs281875246	22159456	2160	F11	umls:C0015523	UNIPROT	Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).	0.586518934	2012	F11	4	186276318	G	A,T
rs281875247	22159456	2160	F11	umls:C0015523	UNIPROT	Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).	0.586518934	2012	F11	4	186280083	C	G
rs281875248	22159456	2160	F11	umls:C0015523	UNIPROT	Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).	0.586518934	2012	F11	4	186280086	G	A
rs281875249	22159456	2160	F11	umls:C0015523	UNIPROT	Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).	0.586518934	2012	F11;F11-AS1	4	186286475	G	T
rs281875250	22159456	2160	F11	umls:C0015523	UNIPROT	Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).	0.586518934	2012	F11;F11-AS1	4	186288460	C	T
rs281875251	22159456	2160	F11	umls:C0015523	UNIPROT	Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).	0.586518934	2012	F11;F11-AS1	4	186288525	G	A
rs281875252	18005151	2160	F11	umls:C0015523	UNIPROT	Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.	0.586518934	2008	F11	4	186271705	C	T
rs281875253	18005151	2160	F11	umls:C0015523	UNIPROT	Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.	0.586518934	2008	F11	4	186280349	C	T
rs281875254	18005151	2160	F11	umls:C0015523	UNIPROT	Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.	0.586518934	2008	F11	4	186280524	T	C
rs281875255	18005151	2160	F11	umls:C0015523	UNIPROT	Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.	0.586518934	2008	F11;F11-AS1	4	186288558	T	C
rs281875256	16607084	2160	F11	umls:C0015523	UNIPROT	Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.	0.586518934	2006	F11	4	186274209	G	A
rs281875257	16607084	2160	F11	umls:C0015523	UNIPROT	Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.	0.586518934	2006	F11	4	186280300	G	A
rs281875258	22016685	2160	F11	umls:C0015523	UNIPROT	A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.	0.586518934	2011	F11;F11-AS1	4	186286451	A	G
rs281875258	22016685	2160	F11	umls:C0015523	BeFree	A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.	0.586518934	2011	F11;F11-AS1	4	186286451	A	G
rs281875259	21668437	2160	F11	umls:C0015523	UNIPROT	Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.	0.586518934	2012	F11	4	186271647	G	A
rs281875260	21668437	2160	F11	umls:C0015523	UNIPROT	Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.	0.586518934	2012	F11	4	186276390	G	C
rs281875261	21668437	2160	F11	umls:C0015523	UNIPROT	Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.	0.586518934	2012	F11	4	186271712	C	A
rs281875262	21668437	2160	F11	umls:C0015523	UNIPROT	Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.	0.586518934	2012	F11	4	186284157	T	C
rs281875263	21668437	2160	F11	umls:C0015523	UNIPROT	Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.	0.586518934	2012	F11;F11-AS1	4	186287685	C	G
rs281875264	21457405	2160	F11	umls:C0015523	UNIPROT	Three dominant-negative mutations in factor XI-deficient patients.	0.586518934	2011	F11	4	186271680	G	A
rs281875265	21457405	2160	F11	umls:C0015523	UNIPROT	Three dominant-negative mutations in factor XI-deficient patients.	0.586518934	2011	F11	4	186276358	C	G
rs281875266	21457405	2160	F11	umls:C0015523	UNIPROT	Three dominant-negative mutations in factor XI-deficient patients.	0.586518934	2011	F11	4	186284163	G	A,T
rs281875267	7888672	2160	F11	umls:C0015523	UNIPROT	Six point mutations that cause factor XI deficiency.	0.586518934	1995	F11	4	186271653	G	C
rs281875268	7888672	2160	F11	umls:C0015523	UNIPROT	Six point mutations that cause factor XI deficiency.	0.586518934	1995	F11	4	186280316	T	C
rs281875269	7888672	2160	F11	umls:C0015523	UNIPROT	Six point mutations that cause factor XI deficiency.	0.586518934	1995	F11	4	186280322	C	T
rs281875270	7888672	2160	F11	umls:C0015523	UNIPROT	Six point mutations that cause factor XI deficiency.	0.586518934	1995	F11	4	186280378	G	A,T
rs281875271	15953011	2160	F11	umls:C0015523	UNIPROT	Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.	0.586518934	2005	F11	4	186271690	G	T
rs281875272	15953011	2160	F11	umls:C0015523	UNIPROT	Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.	0.586518934	2005	F11	4	186273154	A	G
rs281875273	15953011	2160	F11	umls:C0015523	UNIPROT	Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.	0.586518934	2005	F11	4	186274242	A	G
rs281875274	15953011	2160	F11	umls:C0015523	UNIPROT	Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.	0.586518934	2005	F11	4	186280044	G	A
rs281875275	15953011	2160	F11	umls:C0015523	UNIPROT	Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.	0.586518934	2005	F11;F11-AS1	4	186287800	G	A
rs281875276	15953011	2160	F11	umls:C0015523	UNIPROT	Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.	0.586518934	2005	F11;F11-AS1	4	186288589	T	G
rs281875277	11895778	2160	F11	umls:C0015523	UNIPROT	Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.	0.586518934	2002	F11	4	186280020	G	A
rs281875278	11895778	2160	F11	umls:C0015523	UNIPROT	Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.	0.586518934	2002	F11;F11-AS1	4	186286465	T	C
rs281875279	10027710	2160	F11	umls:C0015523	UNIPROT	Identification of a novel mutation in a non-Jewish factor XI deficient kindred.	0.586518934	1999	F11	4	186276373	G	A,C
rs28934608	10606881	2160	F11	umls:C0015523	UNIPROT	To 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.	0.586518934	1999	F11	4	186280333	C	T
rs28934608	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186280333	C	T
rs28934609	10606881	2160	F11	umls:C0015523	UNIPROT	To 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.	0.586518934	1999	F11;F11-AS1	4	186288518	C	A
rs747702749	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186276365	C	T
rs752907087	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186276317	C	T
rs754087775	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186276386	C	T
rs756908183	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186274190	C	T
rs768409400	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186271620	C	T
rs768474112	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186273177	G	A
rs771896253	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186284142	C	T
rs773905328	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186280552	C	A
rs786204429	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186280520	A	-
rs786204449	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186280318	TG	-
rs786204722	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11	4	186280265	G	-
rs786204724	NA	2160	F11	umls:C0015523	CLINVAR	NA	0.586518934	NA	F11;F11-AS1	4	186285646	C	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)