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Parent Node:
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Hyperlipoproteinemias (D006951)
Parent Node:
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Lipid Metabolism, Inborn Errors (D008052)
..Starting node
..expand
Hyperlipoproteinemia 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  LSDB  L: 00399;
..expandCarnitine palmitoyl transferase 1A deficiency (C535588)  LSDB  L: 00440;
..expandCarnitine Palmitoyltransferase II Deficiency, Infantile (C563462)  LSDB  L: 00466;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine-Acylcarnitine Translocase Deficiency (C562812)  LSDB  L: 00437;
..expandChanarin-Dorfman Syndrome (C536560)
..expandCholesteryl Ester Transfer Protein Deficiency (C564591)
..expandCytosolic acetoacetyl-CoA thiolase deficiency (C536005)
..expandDesmosterolosis (C566555)
..expandGLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (OMIM:610293)
..expandHEPATIC LIPASE DEFICIENCY (OMIM:614025)
..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)  LSDB  L: 00434;
..expandMyopathy with Abnormal Lipid Metabolism (C562935)
..expandNeutral Lipid Storage Disease with Myopathy (C565192)
..expandPANCREATIC LIPASE DEFICIENCY (OMIM:614338)
..expandPeroxisomal ACYL-COA oxidase deficiency (C536662)
..expandShort chain Acyl CoA dehydrogenase deficiency (C537596)  LSDB  L: 00435;
..expandSitosterolemia (C537345)
..expandSmith-Lemli-Opitz Syndrome (D019082) Child1
..expandTrifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)  LSDB  L: 00417;
..expandTriglyceride Storage Disease, Type I (C566031)
..expandTriglyceride Storage Disease, Type II (C566030)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandXanthomatosis, Cerebrotendinous (D019294)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5891
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:DO:DOID:14118|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;
MSeqDR LSDB:  
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_ClinVar
NM_000483.4(APOC2):c.-62T>G344APOC2Benign2288911RCV000369592; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490194544928445449284NC_000019.9:g.45449284T>GClinGen:CA10652505C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.4(APOC2):c.-45C>T344APOC2Uncertain significance886054484RCV000394492; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490194544930145449301NC_000019.9:g.45449301C>TClinGen:CA10652057C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.-38G>C344APOC2Uncertain significance1970314890RCV001134427; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:44449019454493084544930819:g.45449308G>C-
NM_000483.5(APOC2):c.-18G>A344APOC2Uncertain significance1433766273RCV001134428; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:44449019454493284544932819:g.45449328G>A-
NM_000483.5(APOC2):c.-14+8A>G344APOC2Uncertain significance-1RCV003228646; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490194544934045449340-
NM_000483.5(APOC2):c.-2C>T344APOC2Benign/Likely benign5121RCV000311438|RCV001566077|RCV002436184; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900|MedGen:CN230736194545173445451734NC_000019.9:g.45451734C>TClinGen:CA9506563C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.1A>G (p.Met1Val)344APOC2Pathogenic120074112RCV000002693|RCV000002694; N|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:44449019454517364545173619:g.45451736A>GClinGen:CA115618,OMIM:608083.0007C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.55+1G>C344APOC2Pathogenic111628497RCV000002690|RCV000002689; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|19454517914545179119:g.45451791G>COMIM:608083.0005C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.56-11T>C344APOC2Conflicting interpretations of pathogenicity778728968RCV001134429|RCV002558285; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:CN51720219454519474545194719:g.45451947T>C-
NM_000483.5(APOC2):c.56-4G>C344APOC2Benign74500990RCV000963385|RCV001134430|RCV002346169; NMedGen:C3661900|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:CN23073619454519544545195419:g.45451954G>C-
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn)344APOC2Uncertain significance147242592RCV001134431|RCV001700702; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C366190019454519874545198719:g.45451987G>A-
NM_000483.5(APOC2):c.102G>A (p.Pro34=)344APOC2Conflicting interpretations of pathogenicity199658000RCV000368497|RCV001545686; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:CN517202194545200445452004NC_000019.9:g.45452004G>AClinGen:CA9506605C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.118del (p.Gln39_Val40insTer)344APOC2Pathogenic1406419764RCV001700669|RCV002267118; NMedGen:C3661900|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:44449019454520194545201945452018OMIM:608083.0006
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)344APOC2Conflicting interpretations of pathogenicity120074114RCV000002697|RCV001135899|RCV001551048|RCV003162207; N|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900|MedGen:CN23073619454520244545202419:g.45452024A>CClinGen:CA115621,UniProtKB:P02655#VAR_000639,OMIM:608083.0009
NM_000483.5(APOC2):c.142T>C (p.Trp48Arg)344APOC2Pathogenic120074115RCV000002700|RCV000002699; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|19454520444545204419:g.45452044T>CClinGen:CA115625,UniProtKB:P02655#VAR_000640,OMIM:608083.0011C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.177C>A (p.Tyr59Ter)344APOC2Likely pathogenic120074111RCV000002683|RCV000002684|RCV002281037; N|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:CN51720219454520794545207919:g.45452079C>AClinGen:CA115616,OMIM:608083.0002C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter)344APOC2Pathogenic120074111RCV000002696|RCV000002695; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|19454520794545207919:g.45452079C>GClinGen:CA115620,OMIM:608083.0008C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys)344APOC2Benign/Likely benign5122RCV000002698|RCV000991187|RCV001513190|RCV002399306; N|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900|MedGen:CN23073619454520804545208019:g.45452080G>AClinGen:CA115623,UniProtKB:P02655#VAR_000641,OMIM:608083.0010
NM_000483.5(APOC2):c.189C>A (p.Tyr63Ter)344APOC2Pathogenic754423238RCV000784907; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:44449019454520914545209119:g.45452091C>A-
NM_000483.5(APOC2):c.195C>A (p.Pro65=)344APOC2Conflicting interpretations of pathogenicity145771233RCV001135900|RCV001702880|RCV001700976|RCV003163294; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:CN517202|MedGen:CN169374|MedGen:CN23073619454520974545209719:g.45452097C>A-
NM_000483.5(APOC2):c.255C>A (p.Tyr85Ter)344APOC2Pathogenic120074116RCV000002701|RCV000002702; N|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:44449019454524554545245519:g.45452455C>AClinGen:CA115626,OMIM:608083.0012C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.270del (p.Asp91fs)344APOC2Pathogenic2122211012RCV000002687|RCV000002688; N|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:44449019454524704545247045452469OMIM:608083.0004
NM_000483.5(APOC2):c.274dup (p.Gln92fs)344APOC2Pathogenic756916028RCV000002685|RCV000002686; N|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:44449019454524724545247345452472LOVD 3:APOC2_000035,OMIM:608083.0003
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter)344APOC2Pathogenic199563828RCV002249256; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:44449019454524744545247445452474-
NM_000483.5(APOC2):c.301G>A (p.Glu101Lys)344APOC2Uncertain significance886054485RCV000271567; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490194545250145452501NC_000019.9:g.45452501G>AClinGen:CA10648770C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.*24C>T344APOC2Uncertain significance780350789RCV000328931; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490194545253045452530NC_000019.9:g.45452530C>TClinGen:CA9506662C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.*77C>A344APOC2Uncertain significance1474754355RCV001135901; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:44449019454525834545258319:g.45452583C>A-
NM_000483.5(APOC2):c.*90C>T344APOC2Benign/Likely benign7253690RCV000362575|RCV001559958; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900194545259645452596NC_000019.9:g.45452596C>TClinGen:CA10652059C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.*116T>C344APOC2Likely benign537917972RCV000270318; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490194545262245452622NC_000019.9:g.45452622T>CClinGen:CA10648771C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.*174T>C344APOC2Uncertain significance886054486RCV000322645; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490194545268045452680NC_000019.9:g.45452680T>CClinGen:CA10648772C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.*188_*189insT344APOC2Benign150448996RCV000379648|RCV001653599; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900194545269445452695NC_000019.9:g.45452694_45452695insTClinGen:CA10642907C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.*203G>A344APOC2Uncertain significance886054487RCV000282845; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490194545270945452709NC_000019.9:g.45452709G>AClinGen:CA10642918C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.*236C>T344APOC2Likely benign142212854RCV000321517; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490194545274245452742NC_000019.9:g.45452742C>TClinGen:CA10652060C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.*306C>T344APOC2Benign1130742RCV000373927|RCV001613064; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900194545281245452812NC_000019.9:g.45452812C>TClinGen:CA10652509C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.*308dup344APOC2Uncertain significance199828513RCV000281770; NMONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490194545281345452814NC_000019.9:g.45452814dupClinGen:CA10652065C1720779 207750 Apolipoprotein C2 deficiency;
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln)-1APOC2;APOC4-APOC2Benign/Likely benign5126RCV000002682|RCV000991188|RCV000974450|RCV001777130|RCV002444415; N|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900|MedGen:CN169374|MedGen:CN23073619454524294545242919:g.45452429A>CClinGen:CA115614,UniProtKB:P02655#VAR_000642,OMIM:608083.0001
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