3-Methylglutaconic aciduria

Symptom Information:

Symptom ID: HPO:0003535
Synonyms:
Aciduria [HPO:0003535]
3-methylglutaconic aciduria [OMIM:3-methylglutaconic aciduria]
3-methylglutaconic aciduria (3-MGC) [OMIM:3-methylglutaconic aciduria (3-MGC)]
Quality:
Cross references:
OMIM: "3-methylglutaconic aciduria" [OMIM:3-methylglutaconic aciduria]
OMIM: "3-methylglutaconic aciduria (3-MGC)" [OMIM:3-methylglutaconic aciduria (3-MGC)]
UMLS:C0278026 "Aciduria" [HPO:0003535]
Is a (Direct Parents):
HPO         Abnormality of mitochondrial metabolism
HPO         Aminoaciduria
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       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)
          Abnormality of urine homeostasis(HPO:0003110)
             Aciduria(HPO:0012072)
                Aminoaciduria(HPO:0003355)
                   3-Methylglutaconic aciduria(HPO:0003535)
          Abnormality of cell physiology(HPO:0011017)
             Abnormality of the mitochondrion(HPO:0012103)
                Abnormality of mitochondrial metabolism(HPO:0003287)
                   3-Methylglutaconic aciduria(HPO:0003535)
       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)
MedDRA:
Database Frequency: 10 / 7739
Resource:

All diseases associated with this symptom:

3-hydroxy-3-methylglutaric aciduria (Orphanet:20)
3-methylglutaconic aciduria type 3 (Orphanet:67047)
Alpers syndrome (Orphanet:726)
Barth syndrome (Orphanet:111)
Dilated cardiomyopathy with ataxia (Orphanet:66634)
Isolated ATP synthase deficiency (Orphanet:254913)
MEGDEL syndrome (Orphanet:352328)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
[DEL] SENGERS SYNDROME (OMIM:212350)