eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| familial lipoprotein lipase deficiency | ||||
| Disease ID | 309 |
|---|---|
| Disease | familial lipoprotein lipase deficiency |
| Definition | rare familial condition characterized by massive chylomicronemia and decreased levels of other lipoproteins; due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyzes an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood. |
| Synonym | buerger-gruetz syndrome burger grutz syndrome burger-grutz syndrome burger-grutz syndromes chylomicronemia, familial chylomicronemias, familial deficiencies, familial lpl deficiencies, lipase d deficiencies, lipd deficiencies, lipoprotein lipase deficiency, familial lpl deficiency, lipase d deficiency, lipd deficiency, lipoprotein lipase endogenous hypertriglyceridaemia endogenous hypertriglyceridemia essential familial hyperlipemia essential familial hyperlipemias familial chylomicronemia familial chylomicronemias familial fat-induced hypertriglyceridaemia familial fat-induced hypertriglyceridemia familial hyperchylomicronaemia familial hyperchylomicronemia familial hyperchylomicronemia (disorder) familial hyperchylomicronemias familial hyperlipemia, essential familial hyperlipemias, essential familial hyperlipoproteinaemia, type i familial hyperlipoproteinemia type 1 familial hyperlipoproteinemia type i familial hyperlipoproteinemia, type i familial lipoprotein lipase defic familial lipoprotein lipase deficiency (disorder) familial lipoprotein lipase deficiency (disorder) [ambiguous] familial lipoprotein lipase deficiency with type i phenotype familial lipoprotein lipase deficiency with type i phenotype (disorder) familial lpl deficiencies familial lpl deficiency familial type i hyperlipoproteinaemia familial type i hyperlipoproteinemia fredrickson type i hyperlipoproteinaemia fredrickson type i hyperlipoproteinemia fredrickson type i hyperlipoproteinemia (disorder) fredrickson type i lipaemia fredrickson type i lipemia fredrickson type i or v hyperlipoproteinemia hepatosplenomegalic lipoidosis hypercholesterinaemic xanthomatosis hypercholesterinemic xanthomatosis hyperchylomicronaemia hyperchylomicronemia hyperchylomicronemia, familial hyperchylomicronemias, familial hyperlipemia, essential familial hyperlipemia, idiopathic familial hyperlipemia, idiopathic, burger-grutz type hyperlipemia, retention hyperlipemias, essential familial hyperlipidemia, group d hyperlipoproteinaemia, type i hyperlipoproteinemia type 01 hyperlipoproteinemia type i hyperlipoproteinemia type i [disease/finding] hyperlipoproteinemia type ia hyperlipoproteinemia type ias hyperlipoproteinemia type is hyperlipoproteinemia, type i hyperlipoproteinemia, type ia hyperlipoproteinemias, type i hyperlipoproteinemias, type ia lipase d deficiencies lipase d deficiency lipase deficiencies, lipoprotein lipd deficiencies lipd deficiency lipoprotein lipase defic familial lipoprotein lipase deficiencies lipoprotein lipase deficiency lipoprotein lipase deficiency, familial lpl deficiencies, familial lpl deficiency lpl deficiency, familial mixed hyperglyceridemia primary hyperchylomicronaemia primary hyperchylomicronemia syndrome, burger-grutz syndromes, burger-grutz type i hyperlipoproteinemia type i hyperlipoproteinemias type ia hyperlipoproteinemia type ia hyperlipoproteinemias |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0023817 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0030305 | pancreatitis | 4 C0878544 | cardiomyopathy | 1 C0023817 | hyperchylomicronaemia | 1 C0007194 | hypertrophic cardiomyopathy | 1 C0001339 | acute pancreatitis | 1 C0023817 | lpl deficiency | 1 C0149521 | recurrent pancreatitis | 1 C0006142 | breast cancer | 1 C0023817 | type i hyperlipoproteinemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 336 | APOA2 | 2.533 | DISEASES 344 | APOC2 | 4.36 | DISEASES 347 | APOD | 2.274 | DISEASES 23607 | CD2AP | 1.417 | DISEASES 28514 | DLL1 | 1.468 | DISEASES 2673 | GFPT1 | 1.785 | DISEASES 338328 | GPIHBP1 | 5.277 | DISEASES 55656 | INTS8 | 3.687 | DISEASES 3949 | LDLR | 1.119 | DISEASES 4018 | LPA | 1.71 | DISEASES 5251 | PHEX | 1.473 | DISEASES 5406 | PNLIP | 3.493 | DISEASES 26278 | SACS | 2.282 | DISEASES 7391 | USF1 | 1.724 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) LPL | 8p21.3 |
| Disease ID | 309 |
|---|---|
| Disease | familial lipoprotein lipase deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0001733 | Pancreatic inflammation | 4 HP:0002155 | Increased triglycerides | 2 HP:0001639 | Hypertrophic cardiomyopathy | 1 HP:0001735 | Acute pancreatitis | 1 HP:0000660 | Lipemia retinalis | 1 HP:0002027 | Abdominal pain | 1 HP:0003002 | Breast carcinoma | 1 HP:0003077 | Hyperlipidemia | 1 HP:0100027 | Recurring pancreatitis | 1 HP:0001638 | Cardiomyopathy | 1 HP:0012531 | Pain | 1 |
| Disease ID | 309 |
|---|---|
| Disease | familial lipoprotein lipase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:42) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118204056 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19954185 | G | A |
| rs118204057 | 15877202 | 4023 | LPL | umls:C0023817 | UNIPROT | Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. | 0.588511328 | 2005 | LPL | 8 | 19954222 | G | A |
| rs118204057 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19954222 | G | A |
| rs118204058 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19951916 | C | T |
| rs118204059 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19955876 | T | A |
| rs118204060 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19954279 | C | T |
| rs118204061 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19954240 | T | C |
| rs118204062 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19955874 | G | A |
| rs118204063 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19953386 | G | A |
| rs118204064 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19954126 | A | G |
| rs118204065 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19951783 | T | A |
| rs118204066 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19960988 | G | A |
| rs118204067 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19954271 | C | G |
| rs118204068 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19955894 | G | A |
| rs118204069 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19951856 | T | C |
| rs118204070 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19951791 | G | A |
| rs118204071 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19959322 | G | A |
| rs118204072 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19954174 | C | G,T |
| rs118204073 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19951825 | A | C |
| rs118204074 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19951819 | C | A |
| rs118204075 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19954243 | G | A |
| rs118204076 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19954199 | C | G,T |
| rs118204077 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19955873 | C | T |
| rs118204078 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19960935 | C | G |
| rs118204079 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19962126 | G | A |
| rs118204080 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19954333 | T | C |
| rs118204081 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19956052 | C | A |
| rs118204082 | NA | 4023 | LPL | umls:C0023817 | CLINVAR | NA | 0.588511328 | NA | LPL | 8 | 19955863 | C | G,T |
| rs121909397 | 19820022 | 64788 | LMF1 | umls:C0023817 | BeFree | LPL deficiency in our patient was milder than in the carrier of the Y439X previously described. | 0.000542884 | 2009 | LMF1 | 16 | 869982 | G | C,A |
| rs136175 | 19239905 | 8542 | APOL1 | umls:C0023817 | BeFree | The Lys166Glu and Ile244Met polymorphisms in apoL-I gene are associated with TG levels in subjects with endogenous hypertriglyceridemia in Chinese. | 0.000542884 | 2009 | APOL1 | 22 | 36265520 | G | A |
| rs145844329 | 21816778 | 338328 | GPIHBP1 | umls:C0023817 | BeFree | GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. | 0.001900093 | 2011 | GPIHBP1 | 8 | 143215486 | G | A,C |
| rs149089920 | 9498099 | 4023 | LPL | umls:C0023817 | UNIPROT | A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis. | 0.588511328 | 1998 | LPL | 8 | 19962134 | G | A |
| rs1800011 | 15256764 | 4023 | LPL | umls:C0023817 | UNIPROT | Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--. | 0.588511328 | 2004 | LPL | 8 | 19955927 | G | A,C |
| rs1801177 | 12966036 | 4023 | LPL | umls:C0023817 | UNIPROT | Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors. | 0.588511328 | 2003 | LPL | 8 | 19948197 | G | A,C |
| rs201079485 | 19447388 | 116519 | APOA5 | umls:C0023817 | BeFree | The Q97X mutation was clearly involved in hyperchylomicronemia with evidence of concomitant altered intravascular lipolysis, and a complete apoAV deficiency in the homozygote. | 0.003995683 | 2009 | APOA5 | 11 | 116790940 | G | A,T |
| rs2239785 | 19239905 | 8542 | APOL1 | umls:C0023817 | BeFree | The Lys166Glu and Ile244Met polymorphisms in apoL-I gene are associated with TG levels in subjects with endogenous hypertriglyceridemia in Chinese. | 0.000542884 | 2009 | APOL1 | 22 | 36265284 | G | A |
| rs268 | 12966036 | 4023 | LPL | umls:C0023817 | UNIPROT | Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors. | 0.588511328 | 2003 | LPL | 8 | 19956018 | A | G |
| rs28934893 | 2121025 | 4023 | LPL | umls:C0023817 | UNIPROT | Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene. | 0.588511328 | 1990 | NA | NA | NA | NA | NA |
| rs3135506 | 18468520 | 116519 | APOA5 | umls:C0023817 | BeFree | Association of APOA5 -1131T>C and S19W gene polymorphisms with both mild hypertriglyceridemia and hyperchylomicronemia in type 2 diabetic patients. | 0.003995683 | 2008 | APOA5 | 11 | 116791691 | G | A,C |
| rs35414700 | 12204001 | 4023 | LPL | umls:C0023817 | UNIPROT | Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. | 0.588511328 | 2002 | LPL | 8 | 19955901 | T | G |
| rs528243561 | 15256764 | 4023 | LPL | umls:C0023817 | UNIPROT | Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--. | 0.588511328 | 2004 | LPL | 8 | 19954258 | T | C |
| rs546542623 | 12204001 | 4023 | LPL | umls:C0023817 | UNIPROT | Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. | 0.588511328 | 2002 | LPL | 8 | 19959335 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 309 |
|---|---|
| Disease | familial lipoprotein lipase deficiency |
| Case | (Waiting for update.) |