TIGLIC ACIDEMIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 275190
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:0003355) Aminoaciduria 65 / 7739
2
 (HPO:0002574) Episodic abdominal pain 10 / 7739
3
 (HPO:0001946) Ketosis 17 / 7739
4
 (HPO:0001941) Acidosis 9 / 7739
5
 (OMIM) Moderate serum ketonemia 1 / 7739
6
 (OMIM) Tiglic acidemia 1 / 7739
7
 (OMIM) Tiglyl-CoA to alpha-methyl-beta-hydroxybutyryl-CoA conversion defect 1 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (MedDRA:10002522) Anion gap 1 / 7739
10
 (OMIM) Tiglic aciduria 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: