Details of Disease

General Information of Disease (ID: DIS0RQ2E)

• Disease Name: Haemophilia A
• Synonyms: Haemophilia A; hemophilia A, congenital; autosomal hemophilia a; autosomal haemophilia a; classic hemophilia; factor 8 deficiency; classical haemophilia; hem A; classic haemophilia; haemophilia A, congenital; hemophilia, classic; HEMA; classical hemophilia; hemophilia a, X-linked recessive; hereditary Factor VIII deficiency disease; haemophilia type A; factor VIII deficiency; congenital factor VIII disorder; hemophilia type A; hemophilia A; hemophilia type a; hereditary Factor VIII deficiency; haemophilia a, X-linked recessive; Subhemophilia; haemophilia type a
• Disease Class: 3B10: Coagulation defect
• Definition: The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.
• Disease Hierarchy:
  DIS1DL2M: Inherited blood coagulation disorder
  DIS1S8P6: Hemophilia
  DIS3PN9X: X-linked disease
  DIS27CUA: Bleeding disorder
  DIS0RQ2E: Haemophilia A
• ICD Code:
  ICD-11: ICD-11: 3B10.0
  ICD-9: ICD-9: 286
  Expand ICD-9: 286
• Disease Identifiers:
  MONDO ID: MONDO_0010602
  MESH ID: D006467
  UMLS CUI: C0019069
  OMIM ID: 306700
  MedGen ID: 5501
  Orphanet ID: 98878
  SNOMED CT ID: 28293008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 7 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Desmopressin	DMS3GVE	Approved	Small molecular drug	[1]
Efanesoctocog alfa	DM2CKIJ	Approved	Protein	[2]
Eloctate	DMRCX8K	Approved	NA	[3]
Jivi	DMDWX5Q	Approved	Recombinant protein	[4]
Obizur	DMB8OC8	Approved	NA	[3]
PEGylated antihemophilic factor	DMV6WID	Approved	NA	[5]
Vasopressin	DMQ2FPC	Approved	Small molecular drug	[6]

This Disease is Treated as An Indication in 14 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
BAX-855	DM47HOO	Phase 3	NA	[7]
Concizumab	DM1BRWD	Phase 3	Monoclonal antibody	[8]
Mim8	DMX33ZR	Phase 3	Antibody	[9]
PF-07055480	DMWPA4L	Phase 3	Gene therapy	[10]
RG6013	DMER75Y	Phase 3	Antibody	[11]
Turoctocog alfa	DMPBJ8W	Phase 3	NA	[12]
Valoctocogene roxaparvovec	DMMKE2H	Phase 3	Gene therapy	[13]
OPK88005	DMGETGH	Phase 2	NA	[14]
BAY2599023	DMUK1K1	Phase 1/2	Gene therapy	[15]
SPK-8011	DM8K7CN	Phase 1/2	Gene therapy	[16]
SPK-8016	DMCP8F3	Phase 1/2	Gene therapy	[17]
TAK-754	DMH6GLU	Phase 1/2	Gene therapy	[18]
ALN-AT3SC	DMMO9I4	Phase 1	NA	[11]
RG6512	DM8104I	Phase 1	Monoclonal antibody	[19]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 22 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS5	TTXSU2Y	Strong	Biomarker	[20]
BPI	TTXCSDR	Strong	Biomarker	[21]
CA13	TTQPHSR	Strong	Biomarker	[22]
CA6	TTCFSPE	Strong	Genetic Variation	[23]
CCR5	TTJIH8Q	Strong	Genetic Variation	[24]
CPB2	TTP18AY	Strong	Biomarker	[25]
F10	TTCIHJA	Strong	Biomarker	[26]
F11	TTDM4ZU	Strong	Biomarker	[27]
F3	TT38MDJ	Strong	Biomarker	[28]
F5	TT1O264	Strong	Genetic Variation	[29]
F7	TTF0EGX	Strong	Biomarker	[30]
GP1BA	TTVB0Q9	Strong	Biomarker	[31]
HAL	TTXQOZW	Strong	Biomarker	[32]
IFNL3	TTRF4Q2	Strong	Genetic Variation	[33]
MAPK9	TT3IVG2	Strong	Genetic Variation	[34]
PF4	TTSG7Q5	Strong	Altered Expression	[35]
ST14	TTPRO7W	Strong	Biomarker	[36]
TRB	TT84HCW	Strong	Genetic Variation	[37]
TRBC1	TT1DHW2	Strong	Genetic Variation	[37]
VIPR1	TTCL30I	Strong	Biomarker	[38]
VWF	TT3SZBT	Strong	Genetic Variation	[39]
F8	TT1290U	Definitive	X-linked	[40]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC14A2	DT8QC7K	Strong	Biomarker	[41]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ABO	DESIA7R	Strong	Biomarker	[42]

This Disease Is Related to 25 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABR	OTZQK8JF	Strong	Biomarker	[43]
AMBP	OTLU8GU8	Strong	Biomarker	[44]
C4BPA	OTHNH6Y8	Strong	Biomarker	[45]
C4orf3	OT6TFN1O	Strong	Biomarker	[46]
C6	OTCKR304	Strong	Biomarker	[47]
CARD14	OTADQHOV	Strong	Biomarker	[45]
CCL3L1	OTQXCYB1	Strong	Biomarker	[48]
CLTC	OTBFASMA	Strong	Biomarker	[49]
FCGR2C	OTNLMNYB	Strong	Biomarker	[50]
FUNDC2	OTY3TQM5	Strong	Genetic Variation	[51]
HAP1	OT6SG0JQ	Strong	Genetic Variation	[52]
HLA-DRA	OT7KZMP2	Strong	Genetic Variation	[37]
HPSE2	OTGEPP8V	Strong	Genetic Variation	[53]
IMPACT	OTQ923OB	Strong	Genetic Variation	[54]
LMAN1	OTYHKDEO	Strong	Genetic Variation	[55]
MCFD2	OTM0XU0U	Strong	Genetic Variation	[55]
NFYA	OTWFFOVH	Strong	Genetic Variation	[52]
PROCR	OTRHED17	Strong	Altered Expression	[56]
PROS1	OTXQWNOI	Strong	Genetic Variation	[57]
PSMA7	OTPHI6ST	Strong	Biomarker	[58]
SERPINA10	OTZ8OZ67	Strong	Biomarker	[26]
SERPINE2	OTYF5340	Strong	Biomarker	[28]
SPRR2A	OT62ZU6B	Strong	Genetic Variation	[59]
STATH	OTQHBHM9	Strong	Genetic Variation	[60]
F8	OTH6XHDU	Definitive	X-linked	[40]

References

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