Details of Disease

General Information of Disease (ID: DISHN9SC)

Disease Name	Factor IX deficiency
Synonyms	HEMB; hem B; hemophilia B(M); F9 deficiency; haemophilia B(M); haemophilia B Leyden; plasma thromboplastin component deficiency; hemophilia B Leyden; factor 9 deficiency; congenital factor IX disorder; hemophilia b, X-linked recessive; Christmas disease; haemophilia type B; factor IX deficiency; congenital factor IX deficiency; hemophilia type B; haemophilia b, X-linked recessive; hereditary Factor IX deficiency; deficiency, functional factor IX; hereditary Factor IX deficiency disease; hemophilia B
Disease Class	3B11: Christmas disease
Definition	Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.
Disease Hierarchy	DIS1DL2M: Inherited blood coagulation disorder DIS1S8P6: Hemophilia DIS27CUA: Bleeding disorder DISHN9SC: Factor IX deficiency
ICD Code	ICD-11 ICD-11: 3B11 ICD-10 ICD-10: D67 Expand ICD-11 '3B11.Z
Disease Identifiers	MONDO ID MONDO_0010604 MESH ID D002836 UMLS CUI C0008533 OMIM ID 306900 MedGen ID 945 Orphanet ID 98879 SNOMED CT ID 41788008

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Recombinant Factor IX	DMY7ESM	Approved	NA	[1]
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This Disease is Treated as An Indication in 6 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
CSL-654	DMZJGVL	Phase 3	NA	[2]
AMT-060	DM7RNKM	Phase 1/2	NA	[3]
AAV2-hFIX16	DMIDEKB	Phase 1	NA	[4]
BAX-499	DM3415L	Phase 1	NA	[5]
N9-GP	DM3IT6R	Phase 1	NA	[6]
NN-7415	DMHVIZC	Phase 1	NA	[7]
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⏷ Show the Full List of 6 Drug(s)

This Disease is Treated as An Indication in 5 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
BNP-FIX	DMJY1KR	Investigative	NA	[8]
F-9TG	DMYWERO	Investigative	NA	[8]
Human recombinant factor VIIa	DMARY2Z	Investigative	NA	[9]
MG-1104	DMHR1GX	Investigative	NA	[8]
MOD-3012	DMLYVQB	Investigative	NA	[8]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F3	TT38MDJ	Limited	Biomarker	[10]
F8	TT1290U	moderate	CausalMutation	[11]
FGG	TTR31L7	moderate	Genetic Variation	[12]
EBP	TT4VQZX	Strong	Genetic Variation	[13]
EIF2AK1	TTRUJBV	Strong	Altered Expression	[14]
F11	TTDM4ZU	Strong	Genetic Variation	[15]
ST14	TTPRO7W	Strong	Genetic Variation	[16]
TFPI	TT068JH	Strong	Biomarker	[17]
F9	TTFEZ5Q	Definitive	X-linked	[18]
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⏷ Show the Full List of 9 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DCXR	DE3FEV8	moderate	Altered Expression	[19]
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This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AASDHPPT	OTA6OR6C	moderate	Genetic Variation	[20]
FAM72A	OTBZYSR3	moderate	Biomarker	[21]
FAM72B	OT6AOG64	moderate	Biomarker	[21]
IFI30	OT9DERT1	moderate	Biomarker	[22]
KRT31	OTB6RCAH	moderate	Genetic Variation	[23]
MNT	OTPC4ANL	moderate	Biomarker	[10]
NBEAL1	OTLJ11N3	moderate	Biomarker	[24]
POLE3	OTOELRF6	moderate	Biomarker	[21]
RIOX1	OTN41QXP	moderate	Biomarker	[10]
RIOX2	OT2YFPI2	moderate	Biomarker	[10]
SACM1L	OT6ORKTD	moderate	Biomarker	[23]
AMT	OTQYEWZQ	Strong	Genetic Variation	[25]
CCHCR1	OT22C116	Strong	Altered Expression	[14]
CCRL2	OT5PX0RX	Strong	Altered Expression	[14]
HPS6	OTXL5KQW	Strong	Genetic Variation	[26]
SPRR2A	OT62ZU6B	Strong	Biomarker	[27]
F9	OTT0CX3Q	Definitive	X-linked	[18]
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⏷ Show the Full List of 17 DOT(s)

References

1	Clinical pipeline report, company report or official report of Baxter 1nternational.
2	ClinicalTrials.gov (NCT02053792) A Safety and Efficacy Extension Study of a Recombinant Fusion Protein Linking Coagulation Factor IX With Albumin (rIX-FP) in Patients With Hemophilia B. U.S. NationalInstitutes of Health.
3	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800026919)
4	ClinicalTrials.gov (NCT00515710) LTFU for Gene Transfer Subjects With Hemophilia B. U.S. National Institutes of Health.
5	ClinicalTrials.gov (NCT01191372) First-in-Human and Proof-of-Mechanism Study of ARC19499 Administered to Hemophilia Patients. U.S. National Institutes of Health.
6	ClinicalTrials.gov (NCT01395810) Safety and Efficacy of NNC-0156-0000-0009 After Long-Term Exposure in Patients With Haemophilia B: An Extension to Trials NN7999-3747 and NN7999-3773. U.S. National Institutes of Health.
7	ClinicalTrials.gov (NCT01228669) Safety of NNC 0172-0000-2021 in Healthy Male Subjects and Subjects With Haemophilia A or B. U.S. National Institutes of Health.
8	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 2364).
9	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 2363).
10	Qualification of a select one-stage activated partial thromboplastin time-based clotting assay and two chromogenic assays for the post-administration monitoring of nonacog beta pegol.J Thromb Haemost. 2017 Oct;15(10):1901-1912. doi: 10.1111/jth.13787. Epub 2017 Sep 11.
11	Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.
12	Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen chain (322 PheIle, Fibrinogen Beijing) and haemophilia B in a family.Haemophilia. 2015 Nov;21(6):846-51. doi: 10.1111/hae.12712. Epub 2015 May 16.
13	Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation.Nat Genet. 1993 Feb;3(2):175-9. doi: 10.1038/ng0293-175.
14	Gene therapy for hemophilia B with liver-specific element mediated by Rep-RBE site-specific integration system.J Cardiovasc Pharmacol. 2015 Feb;65(2):153-9. doi: 10.1097/FJC.0000000000000172.
15	Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val).J Thromb Haemost. 2005 Apr;3(4):808-11. doi: 10.1111/j.1538-7836.2005.01230.x.
16	Factor VIII and IX gene polymorphisms and carrier analysis in Indian population.Am J Hematol. 1997 Apr;54(4):271-5. doi: 10.1002/(sici)1096-8652(199704)54:4<271::aid-ajh2>3.0.co;2-s.
17	Measurement of plasma and platelet tissue factor pathway inhibitor, factor V and Protein S in people with haemophilia.Haemophilia. 2019 Nov;25(6):1083-1091. doi: 10.1111/hae.13860. Epub 2019 Oct 14.
18	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
19	Hepatic control elements promote long-term expression of human coagulation factor IX gene in hydrodynamically transfected mice.J Gene Med. 2011 Jul;13(7-8):365-72. doi: 10.1002/jgm.1583.
20	Lysine 5 and phenylalanine 9 of the factor IX omega-loop interact with phosphatidylserine in a membrane-mimetic environment.Biochemistry. 2004 Dec 14;43(49):15367-78. doi: 10.1021/bi049107f.
21	The genetic diversification of the HIV type 1 gag p17 gene in patients infected from a common source.AIDS Res Hum Retroviruses. 1995 Oct;11(10):1197-201. doi: 10.1089/aid.1995.11.1197.
22	Perioperative haemostatic management of haemophilic mice using normal mouse plasma.Haemophilia. 2013 Nov;19(6):e335-43. doi: 10.1111/hae.12211. Epub 2013 Jul 16.
23	Diagnosis of hemophilia B carriers using two novel dinucleotide polymorphisms and Hha I RFLP of the factor IX gene in Japanese subjects.Thromb Haemost. 1995 Oct;74(4):1009-14.
24	Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site.J Clin Invest. 1985 Jan;75(1):76-83. doi: 10.1172/JCI111700.
25	Enhanced Factor IX Activity following Administration of AAV5-R338L "Padua" Factor IX versus AAV5 WT Human Factor IX in NHPs.Mol Ther Methods Clin Dev. 2019 Sep 26;15:221-231. doi: 10.1016/j.omtm.2019.09.005. eCollection 2019 Dec 13.
26	Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.Mol Genet Metab. 2016 Nov;119(3):284-287. doi: 10.1016/j.ymgme.2016.08.009. Epub 2016 Sep 3.
27	Inherited bleeding disorders in older women.Maturitas. 2012 May;72(1):35-41. doi: 10.1016/j.maturitas.2012.02.008. Epub 2012 Mar 22.