WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 278100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0010512) Adrenal calcification 2 / 7739
2
 (HPO:0002630) Fat malabsorption 11 / 7739
3
 (HPO:0002013) Vomiting 191 / 7739
4
 (HPO:0001510) Growth delay 295 / 7739
5
 (HPO:0001927) Acanthocytosis 11 / 7739
6
 (HPO:0010981) Hypolipoproteinemia 1 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Malabsorption of lipid 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: