Hyperlipoproteinemia type 5
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYPERLIPEMIA, MIXED HYPERLIPEMIA, COMBINED FAT AND CARBOHYDRATE-INDUCED HYPERLIPIDEMIA, TYPE V HYPERCHYLOMICRONEMIA WITH HYPERPREBETALIPOPROTEINEMIA, FAMILIAL HYPERCHYLOMICRONEMIA, LATE-ONSET Major hyperlipidemia |
| Number of Symptoms | 8 |
| OrphanetNr: | 70470 |
| OMIM Id: |
144650
|
| ICD-10: |
E78.3 |
| UMLs: |
C0020481 |
| MeSH: |
D006954 |
| MedDRA: |
|
| Snomed: |
34349009 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Major hypertriglyceridemia
-Rare endocrine disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0012238) | Hyperchylomicronemia | 2 / 7739 | ||||
|
|
(HPO:0003362) | Increased circulating very-low-density lipoprotein cholesterol | 9 / 7739 | ||||
|
|
(HPO:0003563) | Hypobetalipoproteinemia | 9 / 7739 | ||||
|
|
(HPO:0003233) | Hypoalphalipoproteinemia | 18 / 7739 | ||||
|
|
(OMIM) | Increased chylomicrons and VLDL | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Hyperlipoproteinemia V | 1 / 7739 | ||||
|
|
(OMIM) | Decreased LDL and HDL | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|