Hyperlipoproteinemia type 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Familial hypertriglyceridemia |
| Number of Symptoms | 7 |
| OrphanetNr: | 413 |
| OMIM Id: |
144600
145750 |
| ICD-10: |
E78.1 |
| UMLs: |
C0020480 |
| MeSH: |
D006953 |
| MedDRA: |
10059183 10060753 |
| Snomed: |
238085009 267433009 34528009 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Major hypertriglyceridemia
-Rare endocrine disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0001039) | Atheroeruptive xanthoma | 9 / 7739 | ||||
|
|
(HPO:0004416) | Precocious atherosclerosis | 12 / 7739 | ||||
|
|
(HPO:0002155) | Hypertriglyceridemia | 67 / 7739 | ||||
|
|
(HPO:0001952) | Abnormal glucose tolerance | 9 / 7739 | ||||
|
|
(HPO:0003362) | Increased circulating very-low-density lipoprotein cholesterol | 9 / 7739 | ||||
|
|
(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|