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Familial lipoprotein lipase deficiency

Disease Export to PDF
Name:
Familial lipoprotein lipase deficiency
ORPHAcode:
309015
Synonyms:
LPL deficiency
XREF(s):
Orphanet
OMIM
ICD-10
OMIM
Analyte(s):
LPL
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Dyslipidemia ( 13 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCG5 100.00 1 In case of hypercholesterolemia / NM_022436.2
    ABCG8 100.00 1 In case of hypercholesterolemia / NM_022437.2
    APOB 100.00 1 In case of hypercholesterolemia / NM_000384.2
    APOE 100.00 1 In case of hypercholesterolemia / NM_000041.3
    LDLR 100.00 1 In case of hypercholesterolemia / NM_000527.4
    LDLRAP1 100.00 1 In case of hypercholesterolemia / NM_015627.2
    LIPA 100.00 1 In case of hypercholesterolemia / NM_000235.3
    PCSK9 100.00 1 In case of hypercholesterolemia / NM_174936.3
    LPL 100.00 1 In case of hypertriglyceridemia / NM_000237.2
    APOC2 100.00 1 In case of hypertriglyceridemia / NM_000483.4
    APOA5 100.00 1 In case of hypertriglyceridemia / NM_052968.4
    GPIHBP1 100.00 1 In case of hypertriglyceridemia / NM_178172.5
    LMF1 100.00 1 In case of hypertriglyceridemia / NM_022773.3