PedAM

Pediatric Disease Annotations & Medicines


	hemophilia b

Disease ID	162
Disease	hemophilia b
Definition	A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)
Synonym	antihemophilic factor b deficiency autoprothrombin ii deficiency b haemophilia b hemophilia bs, hemophilia christmas dis christmas disease cong factor ix disorder congenital factor ix deficiency congenital factor ix deficiency (disorder) congenital factor ix disorder defic factor ix deficiencies, f9 deficiencies, factor ix deficiency, f9 deficiency, factor ix deficiency, functional factor ix deficiency, plasma thromboplastin component deficiency, ptc disease, christmas f9 deficiencies f9 deficiency factor ix defic factor ix deficiencies factor ix deficiency factor ix deficiency (disorder) factor viiii deficiency haemophilia b haemophilia b, nos haemophilia bs hemb hemophilia b (disorder) hemophilia b [disease/finding] hemophilia b leyden hemophilia b(m) hemophilia b, nos hemophilia bs hemophilia bs (m) hereditary factor ix deficiency disease hereditary factor ix deficiency disease (disorder) plasma thromboplastin component deficiency ptc deficiency ptc deficiency disease sex-linked factor ix deficiency disease
Orphanet	ORPHANET:98879
OMIM	OMIM:306900
DOID	DOID:12259
UMLS	C0008533
MeSH	D002836
SNOMED-CT	SNOMEDCT_US_2016_09_01:41788008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0008533 \| factor ix deficiency \| 1 C0011849 \| diabetes mellitus \| 1 C0040053 \| thrombosis \| 1 C0010068 \| coronary artery disease \| 1 C0011847 \| diabetes \| 1 C0023895 \| liver disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) F9 \| 2158 \| CLINVAR;CTD_human;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2158 \| F9 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:58) 2158 \| F9 \| DISEASES 2765 \| GML \| DISEASES 2217 \| FCGRT \| DISEASES 1158 \| CKM \| DISEASES 1628 \| DBP \| DISEASES 3131 \| HLF \| DISEASES 8456 \| FOXN1 \| DISEASES 7035 \| TFPI \| DISEASES 2677 \| GGCX \| DISEASES 84618 \| NT5C1A \| DISEASES 3881 \| KRT31 \| DISEASES 7450 \| VWF \| DISEASES 9480 \| ONECUT2 \| DISEASES 6929 \| TCF3 \| DISEASES 3827 \| KNG1 \| DISEASES 1950 \| EGF \| DISEASES 5045 \| FURIN \| DISEASES 91937 \| TIMD4 \| DISEASES 23082 \| PPRC1 \| DISEASES 60496 \| AASDHPPT \| DISEASES 6768 \| ST14 \| DISEASES 3889 \| KRT83 \| DISEASES 213 \| ALB \| DISEASES 79803 \| HPS6 \| DISEASES 3175 \| ONECUT1 \| DISEASES 54658 \| UGT1A1 \| DISEASES 7275 \| TUB \| DISEASES 2147 \| F2 \| DISEASES 54715 \| RBFOX1 \| DISEASES 51172 \| NAGPA \| DISEASES 3172 \| HNF4A \| DISEASES 2027 \| ENO3 \| DISEASES 79969 \| ATAT1 \| DISEASES 2152 \| F3 \| DISEASES 285193 \| DUSP28 \| DISEASES 50618 \| ITSN2 \| DISEASES 5265 \| SERPINA1 \| DISEASES 60 \| ACTB \| DISEASES 64663 \| SPANXC \| DISEASES 2157 \| F8 \| DISEASES 343035 \| RD3 \| DISEASES 462 \| SERPINC1 \| DISEASES 55811 \| ADCY10 \| DISEASES 64648 \| SPANXD \| DISEASES 23641 \| LDOC1 \| DISEASES 6658 \| SOX3 \| DISEASES 6406 \| SEMG1 \| DISEASES 2159 \| F10 \| DISEASES 2155 \| F7 \| DISEASES 6461 \| SHB \| DISEASES 83650 \| SLC35G5 \| DISEASES 5627 \| PROS1 \| DISEASES 2160 \| F11 \| DISEASES 8995 \| TNFSF18 \| DISEASES 7499 \| XG \| DISEASES 85476 \| GFM1 \| DISEASES 84000 \| TMPRSS13 \| DISEASES 286411 \| LINC00632 \| DISEASES
Locus	(Waiting for update.)

Disease ID	162
Disease	hemophilia b
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:20) HP:0400008 \| Menometrorrhagia HP:0006298 \| Prolonged bleeding after dental extraction HP:0002239 \| Gastrointestinal hemorrhage HP:0003010 \| Prolonged bleeding time HP:0040232 \| Delayed onset bleeding HP:0002758 \| Osteoarthritis HP:0011858 \| Reduced factor IX activity HP:0004846 \| Prolonged bleeding after surgery HP:0001892 \| Bleeding diathesis HP:0004406 \| Spontaneous, recurrent epistaxis HP:0000790 \| Hematuria HP:0012233 \| Intramuscular hematoma HP:0012541 \| Cephalohematoma HP:0001058 \| Poor wound healing HP:0005542 \| Prolonged whole-blood clotting time HP:0003645 \| Delayed thromboplastin generation HP:0005261 \| Joint hemorrhage HP:0003645 \| Prolonged partial thromboplastin time HP:0001934 \| Excessive bleeding after minor trauma HP:0002170 \| Intracranial hemorrhage
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0012151 \| Hemothorax \| 1 HP:0002170 \| Intracranial hemorrhage \| 1 HP:0001342 \| Intracerebral hemorrhage \| 1 HP:0100310 \| Extradural hematoma \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0001677 \| Coronary artery disease \| 1

Disease ID	162
Disease	hemophilia b
Manually Symptom	UMLS \| Name(Total Manually Symptoms:18) C2363741 \| hiv-1 infection C1962958 \| hematoma C1402315 \| vascular lesions C0850803 \| anaphylaxis C0748324 \| renal obstruction C0398623 \| hypercoagulability C0302809 \| fulminant hepatitis C0154841 \| central retinal vein occlusion C0042951 \| volkmann's syndrome C0038525 \| subarachnoid hemorrhage C0037140 \| b virus infection C0032285 \| pneumonitis C0027726 \| nephrotic syndrome C0023473 \| chronic myeloid leukemia C0019080 \| hemorrhage C0019064 \| hemopericardium C0008533 \| factor ix deficiency C0005779 \| coagulopathy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0018944 \| hematoma \| 2 C0019080 \| hemorrhage \| 2 C0008533 \| factor ix deficiency \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:67)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137852223	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139537090	C	T
rs137852226	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139537139	A	T
rs137852227	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139537144	C	T
rs137852228	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139537145	G	A
rs137852229	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139537158	A	C
rs137852230	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139541076	A	G
rs137852231	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139541085	A	C
rs137852232	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139541099	C	G
rs137852233	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139541114	G	A
rs137852234	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139541127	A	G
rs137852235	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139548450	G	C
rs137852236	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139548467	A	T
rs137852237	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139551112	C	T
rs137852238	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139551113	G	A
rs137852239	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139551196	C	T
rs137852240	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139551217	C	T
rs137852243	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139551223	G	C,T
rs137852244	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139551250	C	T
rs137852245	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139551251	A	T
rs137852246	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139560821	T	G
rs137852247	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139560852	G	A
rs137852248	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561565	C	T
rs137852249	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561566	G	A
rs137852250	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561577	C	T
rs137852251	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561602	A	G
rs137852252	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561683	C	T
rs137852253	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561694	G	C
rs137852254	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561710	C	T
rs137852255	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561743	T	C
rs137852256	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561749	G	T
rs137852257	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561754	G	A
rs137852258	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561820	C	T
rs137852259	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561821	G	A
rs137852260	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561829	T	A,C
rs137852261	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561835	C	A,T
rs137852262	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561865	A	G
rs137852263	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561902	C	T
rs137852265	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561925	C	A,T
rs137852266	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561992	C	A,T
rs137852267	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139562009	G	A
rs137852268	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139562013	T	C
rs137852269	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139562042	T	C
rs137852270	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139562054	A	T
rs137852271	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561805	G	T
rs137852272	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139548455	C	T
rs137852273	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561872	G	C
rs137852274	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139541126	G	A
rs137852275	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561755	G	A
rs137852276	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561917	G	T
rs137852277	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561916	A	G
rs137852278	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561913	G	C
rs137852279	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561557	A	T
rs137852280	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561941	T	A
rs137852281	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561874	G	C
rs137852283	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561836	G	C,T
rs267606792	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139560772	G	C
rs387906474	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139530816	T	C
rs387906475	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139530843	G	A
rs387906477	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139551082	G	T
rs387906478	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139551238	G	A
rs387906479	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561773	G	T
rs387906480	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139530795	T	A
rs387906481	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139530846	T	C
rs387906482	10942410	2158	F9	umls:C0008533	BeFree	Sequencing the complete factor IX gene of 2 sisters with hemophilia B with different phenotypes and no family history of hemorrhagic diathesis revealed a common 5' splice site mutation in intron 3 (T6704C) in both and an additional missense mutation (I344T) in one.	0.546171548	2000	F9	X	139561716	T	C
rs387906482	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139561716	T	C
rs587776735	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139537388	T	C
rs587776736	NA	2158	F9	umls:C0008533	CLINVAR	NA	0.546171548	NA	F9	X	139551081	AG	-

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.)