Decreased pyruvate carboxylase activity

Symptom Information:

Symptom ID: HPO:0003209
Synonyms:
Decreased pyruvate carboxylase (PC) activity (less than 5%) [OMIM:Decreased pyruvate carboxylase (PC) activity (less than 5%)]
Quality:
Cross references:
OMIM: "Decreased pyruvate carboxylase (PC) activity (less than 5%)" [OMIM:Decreased pyruvate carboxylase (PC) activity (less than 5%)]
Is a (Direct Parents):
HPO         Abnormality of Krebs cycle metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of Krebs cycle metabolism(HPO:0000816)
             Decreased pyruvate carboxylase activity(HPO:0003209)
MedDRA:
Database Frequency: 5 / 7739
Resource:

All diseases associated with this symptom:

CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED (OMIM:302900)
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA (OMIM:229310)
Friedreich ataxia 1 (OMIM:229300)
Friedreich ataxia 2 (OMIM:601992)
Pyruvate carboxylase deficiency (Orphanet:3008)