Deutsch
IllnessHyperlipidämie, kombinierte; Differentialdiagnose
Summary
Short information
HP6189_KI
ID
HP6189
Number of loci
| Loci type | Count |
|---|---|
| Gen | 9 |
Examined sequence length
9,0 kb (Core-/Core-canditate-Genes)
23,7 kb (Extended panel: incl. additional genes)
23,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
HP6189_DH
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| APOA5 | 1101 | NM_052968.5 | AD, AR | |
| APOC3 | 300 | NM_000040.3 | AD | |
| APOE | 954 | NM_000041.4 | AD, AR | |
| GPIHBP1 | 555 | NM_178172.6 | AR | |
| LDLR | 2583 | NM_000527.5 | AD | |
| LPL | 1428 | NM_000237.3 | AD, AR | |
| PCSK9 | 2079 | NM_174936.4 | AD | |
| APOB | 13692 | NM_000384.3 | AD | |
| LDLRAP1 | 927 | NM_015627.3 | AR |
Informations about the disease
Clinical Comment
illness_ClinicalComment_HP6189
Synonyms
- Alias: Familial combined hyperlipidaemia
- Alias: Mixed hyperlipidemia
- Alias: Multiple lipoprotein-type hyperlipidemia
- Alias: Rare hyperlipidemia
- Allelic: Alzheimer disease 2 (APOE)
- Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch APOE)
- Allelic: Ezetimibe, nonresponse to (NPC1L1)
- Allelic: Hypobetalipoproteinemia (APOB)
- Allelic: Sea-blue histiocyte disease (APOE)
- Apolipoprotein C-III deficiency (APOC3)
- Combined hyperlipidemia, familial (LPL)
- Coronary artery disease, severe, susceptibility to (APOE)
- Familial combined hyperlipoproteinaemia, inherited mixed hyperlipidaemias [panelapp] (USF1)
- High density lipoprotein cholesterol level QTL 11 (LPL)
- Hypercholesterolemia, familial, 1 (LDLR)
- Hypercholesterolemia, familial, 2 (APOB)
- Hypercholesterolemia, familial, 3 (PCSK9)
- Hypercholesterolemia, familial, 4 (LDLRAP1)
- Hyperchylomicronemia, late-onset (APOA5)
- Hyperlipidemia, familial combined, susceptibility to (USF1)
- Hyperlipoproteinemia, type 1D (GPIHBP1)
- Hyperlipoproteinemia, type III (APOE)
- Hyperlipoproteinemia, type Ib (APOC2)
- Hypertriglyceridemia, susceptibility to (APOA5)
- LDL cholesterol level QTL2 (LDLR)
- Lipoprotein glomerulopathy (APOE)
- Lipoprotein lipase deficiency (LPL)
- Low density lipoprotein cholesterol level QTL 1 (PCSK9)
- Low density lipoprotein cholesterol level QTL 6 (SORT1)
- Low density lipoprotein cholesterol level QTL 7 (NPC1L1)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined