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Disease Browser
Parent Node:
expandHyperlipoproteinemias (D006951)
Parent Node:
expandLipid Metabolism, Inborn Errors (D008052)
..Starting node
..expandHyperlipoproteinemia Type I (D008072)

       Child Nodes:
........expandFamilial hyperchylomicronemia syndrome (C538489)



 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:5413
Name:Hyperlipoproteinemia Type I
Definition:An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.
Alternative IDs:OMIM:207750|OMIM:238600
ParentIDs:MESH:D006951|MESH:D008052
TreeNumbers:C16.320.565.398.465 |C18.452.584.500.500.644.237 |C18.452.648.398.465
Synonyms:Anapolipoproteinemia, C-II |Anapolipoproteinemias, C-II |APOC2 DEFICIENCY |Apolipoprotein C-II Deficiencies |Apolipoprotein C II Deficiency |Apolipoprotein C-II Deficiency |Burger Grutz Syndrome |Burger-Grutz Syndrome |Burger-Grutz Syndromes |Chylomicronemia, Fam
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D008072
MeSH: D008072
OMIM: 207750;

Genes: APOC2; LPL;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001013Eruptive xanthomas
3 HP:0002240Hepatomegaly
4 HP:0002155Hypertriglyceridemia
5 HP:0000660Lipemia retinalis
6 HP:0001733Pancreatitis
7 HP:0001744Splenomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000483.4(APOC2):c.1A>G (p.Met1Val)-1-Pathogenic120074112RCV000002694; RCV000002693; N; MedGen:C1720779,OMIM:207750194545173645451736NM_000483.4:c.1A>GNP_000474.2:p.Met1ValNC_000019.9:g.45451736A>GOMIM Allelic Variant:608083.0007C1720779 207750 Apolipoprotein C2 deficiency
NM_000483.4(APOC2):c.142T>C (p.Trp48Arg)-1-Pathogenic120074115RCV000002700; RCV000002699; N; MedGen:C1720779,OMIM:207750194545204445452044NM_000483.4:c.142T>CNP_000474.2:p.Trp48ArgNC_000019.9:g.45452044T>COMIM Allelic Variant:608083.0011C1720779 207750 Apolipoprotein C2 deficiency
NM_000483.4(APOC2):c.177C>A (p.Tyr59Ter)-1-Pathogenic120074111RCV000002683; RCV000002684; N; MedGen:C1720779,OMIM:207750194545207945452079NM_000483.4:c.177C>ANP_000474.2:p.Tyr59TerNC_000019.9:g.45452079C>A,NC_000019.9:g.45452079C>GOMIM Allelic Variant:608083.0002C1720779 207750 Apolipoprotein C2 deficiency
NM_000483.4(APOC2):c.177C>G (p.Tyr59Ter)-1-Pathogenic120074111RCV000002696; RCV000002695; N; MedGen:C1720779,OMIM:207750194545207945452079NM_000483.4:c.177C>GNP_000474.2:p.Tyr59TerNC_000019.9:g.45452079C>A,NC_000019.9:g.45452079C>GOMIM Allelic Variant:608083.0008C1720779 207750 Apolipoprotein C2 deficiency
NM_000483.4(APOC2):c.255C>A (p.Tyr85Ter)-1-Pathogenic120074116RCV000002702; RCV000002701; N; MedGen:C1720779,OMIM:207750194545245545452455NM_000483.4:c.255C>ANP_000474.2:p.Tyr85TerNC_000019.9:g.45452455C>AOMIM Allelic Variant:608083.0012C1720779 207750 Apolipoprotein C2 deficiency