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Disease Browser
Parent Node:
expandHyperlipoproteinemias (D006951)
Parent Node:
expandHypertriglyceridemia (D015228)
Parent Node:
expandLipid Metabolism, Inborn Errors (D008052)
..Starting node
..expandHyperlipoproteinemia Type V (D006954)

       Child Nodes:



 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:5418
Name:Hyperlipoproteinemia Type V
Definition:A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .
Alternative IDs:OMIM:144650
ParentIDs:MESH:D006951|MESH:D008052|MESH:D015228
TreeNumbers:C16.320.565.398.493 |C18.452.584.500.500.644.495 |C18.452.584.500.500.851.750 |C18.452.648.398.493
Synonyms:Hyperchylomicronemia Late Onset |Hyperchylomicronemia, Late Onset |Hyperchylomicronemia, Late-Onset |Hyperchylomicronemia Late Onsets |Hyperchylomicronemias, Late-Onset |Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial |Hyperlipemia, Combined Fa
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D006954
MeSH: D006954
OMIM: 144650;

Genes: APOA5;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003233Decreased HDL cholesterol concentration
3 HP:0003563Decreased LDL cholesterol concentration
4 HP:0012238Increased circulating chylomicron concentration
5 HP:0003362Increased VLDL cholesterol concentration
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_052968.4(APOA5):c.415C>T (p.Gln139Ter)116519APOA5Pathogenic121917821RCV000004654; NMedGen:C0020481,OMIM:144650,ORPHA:70470,SNOMED CT:3434900911116661530116661530NM_052968.4:c.415C>TNP_443200.2:p.Gln139TerNC_000011.9:g.116661530G>AOMIM Allelic Variant:606368.0003C0020481 144650 Familial type 5 hyperlipoproteinemia