Hyperlipoproteinemia type 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Familial hyperchylomicronemia |
| Number of Symptoms | 5 |
| OrphanetNr: | 411 |
| OMIM Id: |
118830
207750 238600 |
| ICD-10: |
E78.3 |
| UMLs: |
C0023817 C1706413 |
| MeSH: |
D008072 |
| MedDRA: |
10020606 |
| Snomed: |
238086005 267435002 275598004 403827000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 0.1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Major hypertriglyceridemia
-Rare endocrine disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
|
|
(HPO:0002027) | Abdominal pain | 184 / 7739 | ||||
|
|
(HPO:0100027) | Recurrent pancreatitis | 3 / 7739 | ||||
|
|
(HPO:0010980) | Hyperlipoproteinemia | 2 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|