Details of Disease

General Information of Disease (ID: DISW7AQ9)

• Disease Name: Aortic valve stenosis
• Synonyms: valvular aortic stenosis; stenosed aortic valve; rheumatic aortic stenosis; rheumatic aortic valve stenosis; aortic stenosis; AS
• Disease Class: BB70: Aortic valve stenosis
• Definition: Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DISKLYD7: Aortic valve disorder
  DISW7AQ9: Aortic valve stenosis
• ICD Code:
  ICD-11: ICD-11: BB70
  ICD-10: ICD-10: I35.0
  Expand ICD-11: 'BB70
  Expand ICD-10: 'I35.0
• Disease Identifiers:
  MONDO ID: MONDO_0042981
  MESH ID: D001024
  UMLS CUI: C0003507
  MedGen ID: 1621
  HPO ID: HP:0001650
  SNOMED CT ID: 60573004

Drug-Interaction Atlas (DIA) of This Disease

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
CER-522	DMGAW0H	Phase 1	NA	[1]

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
APOB	TTN1IE2	Limited	Biomarker	[2]
CD86	TT53XHB	Limited	Altered Expression	[3]
CTSA	TT5NILS	Limited	CausalMutation	[4]
GATA4	TT1VDN2	Limited	Biomarker	[5]
MUC16	TTC1PS3	Limited	Biomarker	[6]
NPPB	TTY63XT	Limited	Biomarker	[7]
TNFRSF11B	TT2CJ75	Limited	Altered Expression	[8]
EBP	TT4VQZX	moderate	Biomarker	[9]
PALMD	TTIFD98	moderate	Biomarker	[10]
CAD	TT2YT1K	Strong	Genetic Variation	[11]
CNP	TT71P0H	Strong	Biomarker	[12]
CRTC1	TT4GO0F	Strong	Biomarker	[13]
CTH	TTLQUZS	Strong	Biomarker	[14]
CYP11B2	TT9MNE2	Strong	Biomarker	[15]
GUCY2D	TTWNFC2	Strong	Genetic Variation	[16]
LGALS3	TTFPQV7	Strong	Biomarker	[17]
MYH7	TTNIMDP	Strong	Biomarker	[18]
NPPC	TTRK0B9	Strong	Altered Expression	[19]
PLTP	TTZF6SN	Strong	Biomarker	[20]
REN	TTB2MXP	Strong	Biomarker	[21]
TNNT2	TTWAS18	Strong	Biomarker	[18]
VWF	TT3SZBT	Strong	Biomarker	[22]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC22A4	DT2EG60	Strong	Biomarker	[23]

This Disease Is Related to 27 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GATA5	OTO81B63	Limited	Biomarker	[5]
MLC1	OTCNZLSP	Limited	Biomarker	[24]
OGN	OTKP5S4L	Limited	Altered Expression	[25]
SDC4	OTKUVUGZ	Limited	Biomarker	[26]
PTDSS1	OTXLIBD7	moderate	Biomarker	[27]
ARSD	OTAHW9M8	Strong	Biomarker	[28]
C1QTNF9	OTLI3VA3	Strong	Biomarker	[29]
CHGB	OT7SAQT2	Strong	Altered Expression	[30]
CILP	OTKEY2NJ	Strong	Altered Expression	[31]
CLTA	OTLHOXMQ	Strong	Genetic Variation	[16]
CRTAC1	OT4PGEVE	Strong	Genetic Variation	[32]
CRYGC	OTYSTQWI	Strong	Biomarker	[33]
ENO3	OT3HYKYI	Strong	Biomarker	[34]
FLNC	OT3F8J6Y	Strong	Biomarker	[18]
JARID2	OT14UM8H	Strong	Altered Expression	[35]
KLF3	OTIIAC18	Strong	Genetic Variation	[36]
MFN1	OTCBXQZF	Strong	Altered Expression	[37]
MPG	OTAHW80B	Strong	Biomarker	[38]
MYL7	OT7ZNDP4	Strong	Altered Expression	[35]
NINJ1	OTLRZ1EU	Strong	Biomarker	[39]
NLRP6	OTEREN4W	Strong	Genetic Variation	[40]
OGT	OT1Z1ZXE	Strong	Biomarker	[41]
PPP3CB	OTEGNEHW	Strong	Altered Expression	[42]
RNLS	OTVP2WJM	Strong	Genetic Variation	[43]
SCG2	OTXWUQQL	Strong	Biomarker	[44]
SYPL2	OT6CV0CA	Strong	Genetic Variation	[45]
TBX22	OTT1RM26	Strong	Biomarker	[9]

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