PedAM

Pediatric Disease Annotations & Medicines


	lipoprotein lipase deficiency

Disease ID	811
Disease	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 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, 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	ORPHANET:309015
OMIM	OMIM:238600
DOID	DOID:14118
ICD10	ICD10CM:E78.3
UMLS	C0023817
MeSH	D008072
SNOMED-CT	SNOMEDCT_US_2016_09_01:403827000;SNOMEDCT_US_2016_09_01:275598004;SNOMEDCT_US_2016_09_01:267435002;SNOMEDCT_US_2016_09_01:238086005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0030305 \| pancreatitis \| 3 C0001339 \| acute pancreatitis \| 1 C0149521 \| recurrent pancreatitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) APOC2 \| 344 \| CTD_human LPL \| 4023 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 1071 \| CETP \| DISEASES 8106 \| PABPN1 \| DISEASES 5444 \| PON1 \| DISEASES 116519 \| APOA5 \| DISEASES 345 \| APOC3 \| DISEASES 1594 \| CYP27B1 \| DISEASES 338 \| APOB \| DISEASES 335 \| APOA1 \| DISEASES 3630 \| INS \| DISEASES 348 \| APOE \| DISEASES 9945 \| GFPT2 \| DISEASES 64788 \| LMF1 \| DISEASES 3931 \| LCAT \| DISEASES 275 \| AMT \| DISEASES 170692 \| ADAMTS18 \| DISEASES 6326 \| SCN2A \| DISEASES 1436 \| CSF1R \| DISEASES 3990 \| LIPC \| DISEASES 51129 \| ANGPTL4 \| DISEASES 4023 \| LPL \| DISEASES 4018 \| LPA \| DISEASES 338328 \| GPIHBP1 \| DISEASES 347 \| APOD \| DISEASES 23607 \| CD2AP \| DISEASES 2673 \| GFPT1 \| DISEASES 28514 \| DLL1 \| DISEASES 336 \| APOA2 \| DISEASES 7391 \| USF1 \| DISEASES 5406 \| PNLIP \| DISEASES 5251 \| PHEX \| DISEASES 26278 \| SACS \| DISEASES 55656 \| INTS8 \| DISEASES 3949 \| LDLR \| DISEASES 344 \| APOC2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	811
Disease	lipoprotein lipase deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0001733 \| Pancreatic inflammation \| 3 HP:0000660 \| Lipemia retinalis \| 1 HP:0012531 \| Pain \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0002155 \| Increased triglycerides \| 1 HP:0100027 \| Recurring pancreatitis \| 1 HP:0001735 \| Acute pancreatitis \| 1

Disease ID	811
Disease	lipoprotein lipase deficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)