3-Methylglutaric aciduria

Symptom Information:

Symptom ID: HPO:0003344
Synonyms:
3-Methylglutaconicaciduria [HPO:0003344]
3-methylglutaricaciduria [HPO:0003344]
Aciduria [HPO:0003344]
3-Methylglutaconicaciduria [OMIM:3-Methylglutaconicaciduria]
3-methylglutaconicaciduria [OMIM:3-methylglutaconicaciduria]
3-methylglutaric aciduria [OMIM:3-methylglutaric aciduria]
3-methylglutaricaciduria [OMIM:3-methylglutaricaciduria]
3-methylglutaric aciduria (3-MGA) [OMIM:3-methylglutaric aciduria (3-MGA)]
Quality:
Cross references:
OMIM: "3-Methylglutaconicaciduria" [OMIM:3-Methylglutaconicaciduria]
OMIM: "3-methylglutaconicaciduria" [OMIM:3-methylglutaconicaciduria]
OMIM: "3-methylglutaric aciduria" [OMIM:3-methylglutaric aciduria]
OMIM: "3-methylglutaricaciduria" [OMIM:3-methylglutaricaciduria]
OMIM: "3-methylglutaric aciduria (3-MGA)" [OMIM:3-methylglutaric aciduria (3-MGA)]
UMLS:C0278026 "Aciduria" [HPO:0003344]
Is a (Direct Parents):
HPO         3-Methylglutaconic aciduria
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the urinary system physiology(HPO:0011277)
                Abnormality of urine homeostasis(HPO:0003110)
                   Aciduria(HPO:0012072)
                      Aminoaciduria(HPO:0003355)
                         3-Methylglutaconic aciduria(HPO:0003535)
                            3-Methylglutaric aciduria(HPO:0003344)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of amino acid metabolism(HPO:0004337)
                Aminoaciduria(HPO:0003355)
                   3-Methylglutaconic aciduria(HPO:0003535)
                      3-Methylglutaric aciduria(HPO:0003344)
          Abnormality of cell physiology(HPO:0011017)
             Abnormality of the mitochondrion(HPO:0012103)
                Abnormality of mitochondrial metabolism(HPO:0003287)
                   3-Methylglutaconic aciduria(HPO:0003535)
                      3-Methylglutaric aciduria(HPO:0003344)
          Abnormality of urine homeostasis(HPO:0003110)
             Aciduria(HPO:0012072)
                Aminoaciduria(HPO:0003355)
                   3-Methylglutaconic aciduria(HPO:0003535)
                      3-Methylglutaric aciduria(HPO:0003344)
MedDRA:
Database Frequency: 6 / 7739
Resource:

All diseases associated with this symptom:

3-hydroxy-3-methylglutaric aciduria (Orphanet:20)
3-methylglutaconic aciduria type 3 (Orphanet:67047)
3-methylglutaconic aciduria type 4 (Orphanet:67048)
Dilated cardiomyopathy with ataxia (Orphanet:66634)
MEGDEL syndrome (Orphanet:352328)
Pearson syndrome (Orphanet:699)