HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 144300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

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: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001084) Corneal arcus 8 / 7739
2
 (HPO:0000365) Hearing impairment 539 / 7739
3
 (HPO:0000951) Abnormality of the skin 147 / 7739
4
 (HPO:0002635) Atheromatosis 2 / 7739
5
 (HPO:0003141) Hyperbetalipoproteinemia 10 / 7739
6
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
7
 (HPO:0003124) Hypercholesterolemia 53 / 7739
8
 (OMIM) Hyperlipoproteinemia II 1 / 7739
9
 (OMIM) Xanthoma tuberosum and tendinosum 1 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (OMIM) Normal serum phospholipids and triglycerides 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: