LACTIC ACIDOSIS, CHRONIC ADULT FORM

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 150170
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:0002149) Hyperuricemia 37 / 7739
2
(HPO:0004925) Chronic lactic acidosis 3 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Increased lactate-to-pyruvate ratio 1 / 7739
5
(OMIM) Elevated lactic and pyruvic acids 1 / 7739
6
(OMIM) Depressed uric acid clearance 1 / 7739
7
(OMIM) Chronic adult lactic acidosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: