Deutsch
IllnessHypertriglyceridaemia, familial
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Hypertriglyceridemia
ID
HS1236
Number of genes
1
Accredited laboratory test
Examined sequence length
1,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| APOA5 | 1101 | NM_052968.5 | AD, AR |
Informations about the disease
Clinical Comment
Type V of Fredrickson is characterized by increased amounts of chylomicrons + very low density lipoprotein (VLDL), decreased LDL + high density lipoprotein (HDL) in the plasma after a fast. Numerous conditions cause this phenotype, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, glycogen storage disease I. Symptoms include bouts of abdominal pain + eruptive xanthoma.
Synonyms
- Alias: Hyperchylomikronämie, später Beginn
- Alias: Hyperlipoproteinamia Typ V
- Alias: Hypertriglyzeridämie
- Familial apolipoprotein A-V deficiency (APOA5)
- Familial apolipoprotein A5 deficiency (APOA5)
- Familial chylomicronemia syndrome (APOA5)
- Hyperchylomicronemia, late-onset (APOA5)
- Hypertriglyceridemia, susceptibility to (APOA5)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined