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Disease Browser
Parent Node:
expandHyperlipoproteinemias (D006951)
Parent Node:
expandLipid Metabolism, Inborn Errors (D008052)
..Starting node
..expandHyperlipoproteinemia Type II (D006938)

       Child Nodes:
........expandFamilial Hyperbeta- and Prebetalipoproteinemia (C566262)
........expandHigh serum cholesterol, familial (C538646)
........expandHypercholesterolemia due to arg3500 mutation of Apo B-100 (C536083)
........expandHYPERCHOLESTEROLEMIA, FAMILIAL (OMIM:143890)



 Sister Nodes: 
..expand2,4-Dienoyl-CoA Reductase Deficiency (C565624)
..expandAcetyl-Coa Carboxylase Deficiency (C562678)
..expandAlpha-Methylacyl-CoA Racemase Deficiency (C565768)
..expandApolipoprotein E, Deficiency or Defect of (C566260)
..expandBarth Syndrome (D056889) Child2
..expandCarnitine palmitoyl transferase 1A deficiency (C535588)
..expandCarnitine Palmitoyltransferase II Deficiency, Infantile (C563462)
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..expandCarnitine-Acylcarnitine Translocase Deficiency (C562812)
..expandCholesteryl Ester Transfer Protein Deficiency (C564591)
..expandCytosolic acetoacetyl-CoA thiolase deficiency (C536005)
..expandDesmosterolosis (C566555)
..expandHydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency (C536080)
..expandHyperlipidemia, Familial Combined (D006950) Child2
..expandHyperlipoproteinemia Type I (D008072) Child1
..expandHyperlipoproteinemia Type II (D006938) Child4
..expandHyperlipoproteinemia Type III (D006952)
..expandHyperlipoproteinemia Type IV (D006953)
..expandHyperlipoproteinemia Type V (D006954)
..expandHypolipoproteinemias (D007009) Child14
..expandLipase deficiency combined (C535904)
..expandLipidoses (D008064) Child71
..expandLipodystrophy, Congenital Generalized (D052497) Child3
..expandLong-chain acyl-CoA dehydrogenase deficiency (C535690)
..expandLp(A) Deficiency, Congenital (C563618)
..expandMedium chain acyl CoA dehydrogenase deficiency (C536038)
..expandMyopathy with Abnormal Lipid Metabolism (C562935)
..expandNeutral Lipid Storage Disease with Myopathy (C565192)
..expandPeroxisomal ACYL-COA oxidase deficiency (C536662)
..expandShort chain Acyl CoA dehydrogenase deficiency (C537596)
..expandSitosterolemia (C537345)
..expandSmith-Lemli-Opitz Syndrome (D019082) Child1
..expandTrifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
..expandTriglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..expandTriglyceride Storage Disease, Type I (C566031)
..expandTriglyceride Storage Disease, Type II (C566030)
..expandVLCAD deficiency (C536353)
..expandXanthomatosis, Cerebrotendinous (D019294)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5414
Name:Hyperlipoproteinemia Type II
Definition:A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).
Alternative IDs:OMIM:144010
ParentIDs:MESH:D006951|MESH:D008052
TreeNumbers:C16.320.565.398.481 |C18.452.584.500.500.644.475 |C18.452.648.398.481
Synonyms:Apolipoprotein B 100, Familial Defective |Apolipoprotein B-100, Familial Defective |Apolipoprotein B 100, Familial Ligand Defective |Apolipoprotein B-100, Familial Ligand-Defective |Autosomal Dominant Hypercholesterolemia |Autosomal Dominant Hypercholesterole
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D006938
MeSH: D006938
OMIM: 144010;

Genes: APOB;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001084Corneal arcus
3 HP:0001677Coronary artery atherosclerosis
4 HP:0003124Hypercholesterolemia
5 HP:0001114Xanthelasma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000384.2(APOB):c.10187C>A (p.Ala3396Asp)338APOBLikely pathogenic730880052RCV000157117; NMedGen:C1704417,OMIM:14401022122955321229553NM_000384.2:c.10187C>ANP_000375.2:p.Ala3396AspNC_000002.11:g.21229553G>T-C1704417 144010 Hypercholesterolemia, autosomal dominant, type B