Familial hyperlipidemia type 2 (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none Type II BCellular transcriptionfactorMutation leadingto differentphenotypeLipid signalingFHCL1FHCL4FCHL2FCHL1FHCL3HYPLIP2FCHL3USF1DHETFamilial combined hyperlipidemiaEETFamilialhypercholesterolemiaFamilialhyperlipidemiaType II AEPHX2GHRPCSK9LDLRAP1APOBHepatocyteVLDLAPOA2APOA4APOA1PLTPCholesterolHDLLDLLipoproteinIDLLIPCLCATLDLRLPLGPIHBP1GPIHBP1LPLCETPxTransportBindingInhibitionConversionGene/proteinMetaboliteCatalysisStimulationMutationsLegendxCETPCETPCholesterolTriglyceridePhospholipidName: Familial hyperlipidemia type 2Organism: Homo sapiens


Description

Familial hyperlipidemias are grouped according to the Fredrickson classification. Type II familial hyperlipidemia is divided into 2 subtypes, IIa and IIb.

IIa is linked with mutations in the LDL receptor (LDLR) or genes that regulate the LDL uptake. Therefore, we see an increase of LDL with type IIa familial hyperlipidemia. IIa can be subdivided into 4 different types. FHCL1 is caused by direct mutations of LDLR. FCHL1 has different associated phenotypes, caused by mutations in APOA2, EPHX2, and GHR. FCHL2 is caused by mutations in APOB, which acts as a ligand for LDLR. FHCL3 is caused by mutations in PCSK9 which binds to LDLR to inhibit LDL uptake. Lastly, FHCL4 is linked with mutations in LDLRAP1, which stimulates receptor binding.

Type IIB familial hyperlipidemia is known as familial combined hyperlipidemia. This type has shown an increase of both LDL and VLDL. Type IIB can be divided into 3 subtypes. FCHL1 is caused by mutations in USF1 which plays a role in transcription. However, it is unclear exactly how this is linked to lipid metabolism. HYPLIP2 is caused by mutations in APOB, which is linked to reduced LDL. APOB is also a primary apolipoprotein for VLDL. Lastly, FCHL3 is linked to LPL mutations, which is mostly linked to hydrolyzing VLDL into IDL.

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Quality Tags

Image:Curated.pngApproved version
Image:Wplogo_31.pngCommunity: Rare Diseases

Ontology Terms

 

Bibliography

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History

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136858
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view01:20, 25 February 2025EweitzModified description
136857view01:01, 25 February 2025EweitzStack nodes
136856view00:56, 25 February 2025EweitzModified description
136557
RARE
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136554view18:34, 7 February 2025EweitzEconomize layout
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135223view12:01, 8 August 2024EweitzEconomize layout
135222view11:57, 8 August 2024EweitzEconomize layout
134579view23:43, 22 July 2024EweitzOntology Term : 'hepatocyte' added !
134373view13:29, 21 July 2024EgonwRemoved template comments
120391view08:42, 30 November 2021Fehrhartfixed weird characters in literature list
119149view10:52, 18 June 2021UlasBabayigitCorrected transport arrows and added comment
119148view10:50, 18 June 2021UlasBabayigitCorrected arrows into graphical lines.
119147view10:48, 18 June 2021UlasBabayigitCorrected arrows into graphical lines.
119146view10:47, 18 June 2021UlasBabayigitCorrected arrows into graphical lines.
118696view07:31, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
118671view06:54, 1 June 2021UlasBabayigitAdded wikidata link to FCHL3 node.
118503view09:13, 28 May 2021UlasBabayigitOntology Term : 'familial hyperlipidemia' added !
118489view08:29, 28 May 2021UlasBabayigitOntology Term : 'familial combined hyperlipidemia' added !
118488view08:28, 28 May 2021UlasBabayigitOntology Term : 'familial hypercholesterolemia' added !
118487view08:27, 28 May 2021UlasBabayigitNew pathway

External references

DataNodes

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Name  ↓Type  ↓Database reference  ↓Comment  ↓
APOA1GeneProductENSG00000118137 (Ensembl)
APOA2GeneProductENSG00000158874 (Ensembl)
APOA4GeneProductENSG00000110244 (Ensembl)
APOBGeneProductENSG00000084674 (Ensembl)
CETPGeneProductENSG00000087237 (Ensembl)
CholesterolMetaboliteCHEBI:16113 (ChEBI)
DHETMetaboliteCHEBI:64005 (ChEBI)
EETMetaboliteCHEBI:64007 (ChEBI)
EPHX2GeneProductENSG00000120915 (Ensembl)
FCHL1Q18032304 (Wikidata)
FCHL2Q14890615 (Wikidata)
FCHL3Q2242370 (Wikidata) Unclear what this subtypes is seperated on compared to the main class of combined hyperlipidemia. Wikidata is shared for both.
FHCL1Q14872724 (Wikidata)
FHCL3Q3359612 (Wikidata)
FHCL4Q18038122 (Wikidata)
Familial hypercholesterolemiaQ2711291 (Wikidata)
Familial hyperlipidemiaQ18554145 (Wikidata)
Familial combined hyperlipidemiaQ2242370 (Wikidata)
GHRGeneProductENSG00000112964 (Ensembl)
GPIHBP1GeneProductENSG00000277494 (Ensembl)
HDLMetaboliteCHEBI:47775 (ChEBI)
HYPLIP2Q20772119 (Wikidata)
IDLMetaboliteCHEBI:132933 (ChEBI)
LCATGeneProductENSG00000213398 (Ensembl)
LDLMetaboliteCHEBI:47774 (ChEBI)
LDLRAP1GeneProductENSG00000157978 (Ensembl)
LDLRGeneProductENSG00000130164 (Ensembl)
LIPCGeneProductENSG00000166035 (Ensembl)
LPLGeneProductENSG00000175445 (Ensembl)
LipoproteinMetaboliteCHEBI:6495 (ChEBI)
PCSK9GeneProductENSG00000169174 (Ensembl)
PLTPGeneProductENSG00000100979 (Ensembl)
PhospholipidMetaboliteCHEBI:16247 (ChEBI)
TriglycerideMetaboliteCHEBI:17855 (ChEBI)
USF1GeneProductENSG00000158773 (Ensembl)
VLDLMetaboliteCHEBI:39027 (ChEBI)

Annotated Interactions

No annotated interactions

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