Details of Disease

General Information of Disease (ID: DISC06IX)

• Disease Name: Familial hypercholesterolemia
• Synonyms: type II hyperlipidemia; familial hyperbetalipoproteinaemia; Fredrickson type IIa lipidaemia; Fredrickson type IIa hyperlipoproteinemia; hyperlipoproteinemia type II; hyperbetalipoproteinemia; familial hypercholesteremia
• Disease Class: 5C80: Hyper-lipoproteinaemia
• Definition: An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.|Editor note: TODO check xrefs
• Disease Hierarchy:
  DISVBLBO: Hyperlipoproteinemia
  DIS4R2OG: Hyperlipidaemia
  DISC06IX: Familial hypercholesterolemia
• ICD Code:
  ICD-11: ICD-11: 5C80.00
  ICD-10: ICD-10: E78.0
  ICD-9: ICD-9: 272
  Expand ICD-11: '5C80.00
  Expand ICD-10: 'E78.0
  Expand ICD-9: 272
• Disease Identifiers:
  MONDO ID: MONDO_0005439
  MESH ID: D006938
  UMLS CUI: C0020445
  MedGen ID: 5688
  SNOMED CT ID: 190773008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 6 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Bempedoic acid	DM1CI9R	Approved	Small molecular drug	[1]
BMS-201038	DMQTAGO	Approved	Small molecular drug	[2]
Evinacumab	DMBLX7U	Approved	NA	[3]
Inclisiran	DMP3YTE	Approved	NA	[4]
Mipomersen	DMGSRN1	Approved	Antisense drug	[5]
REGN-727	DM87XSN	Approved	Antibody	[6]

This Disease is Treated as An Indication in 4 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
MBX-8025	DMNTCV4	Phase 2/3	Small molecular drug	[7]
AEM-28	DMI5TXZ	Phase 2	NA	[7]
MGL-3196	DM1HC9R	Phase 2	NA	[3]
RGX 501	DM8K4YZ	Phase 1/2	NA	[3]

This Disease is Treated as An Indication in 2 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AEM-18	DMMXHQH	Investigative	NA	[8]
FH-AAV8	DMWJ5YC	Investigative	NA	[8]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 34 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOA4	TTNC3WS	Disputed	Genetic Variation	[9]
ABCA1	TTJW1GN	Strong	Genetic Variation	[10]
ABCG5	TTKZ7WY	Strong	Biomarker	[11]
ALOX5AP	TTDMBF5	Strong	Genetic Variation	[12]
ANGPTL3	TT59GO7	Strong	Biomarker	[13]
APOA1	TT5S8DR	Strong	Biomarker	[14]
APOA2	TTGQA9W	Strong	Biomarker	[15]
APOC3	TTXOZQ1	Strong	Biomarker	[16]
APOL1	TTDB8PW	Strong	Altered Expression	[17]
CACNA1A	TTX4QDJ	Strong	Genetic Variation	[18]
CAD	TT2YT1K	Strong	Biomarker	[19]
CARM1	TTIZQFJ	Strong	Genetic Variation	[18]
CCR4	TT7HQD0	Strong	Biomarker	[20]
CDC37	TT5SOEU	Strong	Genetic Variation	[18]
CETP	TTFQAYR	Strong	Biomarker	[21]
CXCR1	TTMWT8Z	Strong	Altered Expression	[20]
GSS	TTVEWR4	Strong	Biomarker	[22]
HMGCR	TTPADOQ	Strong	Genetic Variation	[23]
HPD	TT8DSFC	Strong	Biomarker	[24]
LCAT	TTGZ91P	Strong	Altered Expression	[25]
LIPA	TTS8T1M	Strong	Biomarker	[26]
LIPG	TTHSZXO	Strong	Genetic Variation	[27]
LPL	TTOF3WZ	Strong	Biomarker	[27]
PDE4A	TTZ97H5	Strong	Genetic Variation	[18]
PLA2G7	TTDNFMT	Strong	Altered Expression	[28]
PON1	TT9LX82	Strong	Genetic Variation	[29]
POR	TTOQ9GZ	Strong	Genetic Variation	[30]
SCN8A	TT54ERL	Strong	Genetic Variation	[31]
SELE	TT1PL7M	Strong	Biomarker	[32]
TYK2	TTBYWP2	Strong	Genetic Variation	[18]
ADRB3	TTMXGCW	Definitive	Genetic Variation	[33]
APOH	TT2OUI9	Definitive	Genetic Variation	[34]
SREBF2	TTRQ4AP	Definitive	Biomarker	[35]
TNFRSF13C	TT7NJSE	Definitive	Altered Expression	[36]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCD2	DT4MBHD	Strong	Biomarker	[37]

This Disease Is Related to 4 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PON2	DEHJU7E	Disputed	Genetic Variation	[38]
CHDH	DEAHED0	Strong	Biomarker	[39]
CYP7A1	DEDZRQ1	Strong	Genetic Variation	[40]
PRKCSH	DE073GW	Strong	Genetic Variation	[18]

This Disease Is Related to 42 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GK	OTK2YRA0	moderate	Biomarker	[41]
ABCG8	OTIJ76XW	Strong	Biomarker	[42]
ADPRH	OTLJ5511	Strong	Genetic Variation	[43]
AGO2	OT4JY32Q	Strong	Biomarker	[24]
CCN6	OTRFHQ2Z	Strong	Biomarker	[24]
CELSR2	OTON6JSZ	Strong	Genetic Variation	[44]
CH25H	OT9S2BSW	Strong	Genetic Variation	[45]
COG2	OTKQH4N4	Strong	Biomarker	[46]
COL9A1	OTWBR27Y	Strong	Genetic Variation	[31]
COL9A2	OT1ZBDBV	Strong	Genetic Variation	[31]
COL9A3	OTCUJOEK	Strong	Genetic Variation	[31]
COMP	OTS2FPMI	Strong	Genetic Variation	[31]
COX7B	OT67PIDP	Strong	Biomarker	[47]
EXT1	OTRPALJK	Strong	Genetic Variation	[48]
EXT2	OT8IR5QN	Strong	Genetic Variation	[48]
FARSA	OT3U1P20	Strong	Genetic Variation	[18]
ICAM3	OTTZ5A5D	Strong	Genetic Variation	[18]
INSIG2	OTX4VY51	Strong	Genetic Variation	[45]
KANK2	OT3SZIWM	Strong	Genetic Variation	[18]
LDLRAP1	OT6QTX7R	Strong	Genetic Variation	[49]
LIPC	OTZY5SC9	Strong	Posttranslational Modification	[50]
NHS	OTKE8QAT	Strong	Genetic Variation	[51]
OCA2	OTDWIGBF	Strong	Genetic Variation	[31]
PEA15	OTKCKTSX	Strong	Genetic Variation	[31]
PHACTR1	OTAMPX9V	Strong	Genetic Variation	[52]
PLAAT1	OTM3M6P4	Strong	Altered Expression	[53]
PNPLA5	OTZ1GP03	Strong	Genetic Variation	[40]
RAVER1	OTMHBTLE	Strong	Genetic Variation	[18]
SORL1	OTQ8FFNS	Strong	Biomarker	[54]
STAP1	OTUTZH0W	Strong	Biomarker	[26]
TNNT1	OT8PBOAR	Strong	Genetic Variation	[55]
APOA5	OTEVKLVA	Definitive	Genetic Variation	[56]
APOC2	OTLINYIQ	Definitive	Altered Expression	[57]
C4BPA	OTHNH6Y8	Definitive	Genetic Variation	[58]
C4BPB	OTJ70B0K	Definitive	Genetic Variation	[58]
CRABP2	OTY01V9G	Definitive	Genetic Variation	[59]
CXCL3	OTSL94KH	Definitive	Altered Expression	[60]
FGB	OT6RKLI9	Definitive	Genetic Variation	[38]
SACS	OTZGXQ8A	Definitive	Altered Expression	[61]
SCNN1A	OTE2KVZV	Definitive	Genetic Variation	[62]
TNFRSF10D	OTOSRDJT	Definitive	Biomarker	[36]
TRIB1	OTPEO17G	Definitive	Genetic Variation	[63]

References

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