IllnessLipoprotein lipase deficiency, differential diagnosis

Summary

Short information

A curated panel containing 4 guideline-curated genes and altogether 9 genes for the comprehensive analysis of the genetically caused forms of Lipoprotein-Lipase deficiency

LP7688

Number of genes

8 Accredited laboratory test

Examined sequence length

1,5 kb (Core-/Core-canditate-Genes)
21,2 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

Next +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
LPL	1428	609708	NM_000237.3	AD, AR
APOA5	1101	606368	NM_052968.5	AD, AR
APOB	13692	107730	NM_000384.3	AD, AR
APOC2	306	608083	NM_000483.5	AR
APOE	954	107741	NM_000041.4	AD, AR
CREB3L3	1386	611998	NM_032607.3	AD
GPIHBP1	555	612757	NM_178172.6	AR
LMF1	1704	611761	NM_022773.4	AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_ LP7688

Synonyms

Alias: Burger-Grutz syndrome
Alias: Chylomikronämie-Syndrom, familiäres
Alias: Endogenous hypertriglyceridaemia
Alias: Familial LPL deficiency
Alias: Familial Lipoprotein Lipase Deficiency
Alias: Familial chylomicromenia [syndrome]
Alias: Familial fat-induced hypertriglyceridemia
Alias: Familial hyperchylomicronemia
Alias: Hyperlipoproteinemia type I
Alias: Hyperlipoproteinemia type Ia
Alias: LIPD deficiency
Alias: Lipase D deficiency
Alias: Lipoprotein lipase deficiency, familial
Allelic: Alzheimer disease 2 (APOE)
Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch (APOE)
Allelic: Coronary artery disease, severe, susceptibility to (APOE)
Allelic: High density lipoprotein cholesterol level QTL 11 (LPL)
Allelic: Lipoprotein glomerulopathy (APOE)
Allelic: Macular degeneration, age-related (APOE)
Allelic: Sea-blue histiocyte disease (APOE)
Combined hyperlipidemia, familial (LPL)
Hypercholesterolemia, familial, 2 (APOB)
Hyperchylomicronemia, late-onset (APOA5)
Hyperlipoproteinemia, type ID (GPIHBP1)
Hyperlipoproteinemia, type III (APOE)
Hyperlipoproteinemia, type Ib (APOC2)
Hypertriglyceridemia 2 (CREB3L3)
Hypertriglyceridemia, susceptibility to (APOA5)
Hypertriglyceridemia, transient infantile (GPD1)
Hypobetalipoproteinemia (APOB)
Lipase deficiency, combined (LMF1)
Lipoprotein lipase deficiency (LPL)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

E78.-

Bioinformatics and clinical interpretation

No text defined