HYPOASCORBEMIA

General Information (adopted from Orphanet):

Synonyms, Signs: VITAMIN C, INABILITY TO SYNTHESIZE L-GULONOLACTONE OXIDASE PSEUDOGENE, INCLUDED
GULOP, INCLUDED
SCURVY
GULO, NONFUNCTIONAL, INCLUDED
L-GULONOLACTONE OXIDASE, NONFUNCTIONAL, INCLUDED
Number of Symptoms 4
OrphanetNr:
OMIM Id: 240400
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:0001939) Abnormality of metabolism/homeostasis 328 / 7739
2
(OMIM) L-gulonolactone oxidase deficiency 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Hypoascorbemia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: