CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 615751
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:0001254) Lethargy 104 / 7739
2
 (HPO:0003128) Lactic acidosis 116 / 7739
3
 (HPO:0001943) Hypoglycemia 131 / 7739
4
 (HPO:0001942) Metabolic acidosis 81 / 7739
5
 (HPO:0002151) Increased serum lactate 92 / 7739
6
 (HPO:0001993) Ketoacidosis 17 / 7739
7
 (HPO:0001950) Respiratory alkalosis 7 / 7739
8
 (HPO:0001987) Hyperammonemia 50 / 7739
9
 (HPO:0003348) Hyperalaninemia 19 / 7739
10
 (HPO:0002789) Tachypnea 48 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: