TRIGLYCERIDE STORAGE DISEASE, TYPE I

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 190420
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0004325) Decreased body weight 492 / 7739
3
(OMIM) Triglyceride storage in peripheral adipose tissue 1 / 7739
4
(OMIM) Poor stimulation of adenyl cyclase in tissues by noradrenaline 1 / 7739
5
(OMIM) Gross emaciation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: