Methylmalonic aciduria

Symptom Information:

Symptom ID: HPO:0012120
Synonyms:
Methymalonicaciduria [HPO:0012120]
Methylmalonic aciduria [OMIM:Methylmalonic aciduria]
Methymalonicaciduria [OMIM:Methymalonicaciduria]
Methylmalonic aciduria [MedDRA:10059521]
Quality:
Cross references:
OMIM: "Methylmalonic aciduria" [OMIM:Methylmalonic aciduria]
OMIM: "Methymalonicaciduria" [OMIM:Methymalonicaciduria]
UMLS:C1855119 "Methymalonicaciduria" [HPO:0012120]
Is a (Direct Parents):
MedDRA Abnormality of amino acid metabolism
HPO         Dicarboxylic 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)
                      Organic aciduria(HPO:0001992)
                         Dicarboxylic aciduria(HPO:0003215)
                            Methylmalonic aciduria(HPO:0012120)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of dicarboxylic acid metabolism(HPO:0010995)
                Dicarboxylic aciduria(HPO:0003215)
                   Methylmalonic aciduria(HPO:0012120)
          Abnormality of urine homeostasis(HPO:0003110)
             Aciduria(HPO:0012072)
                Organic aciduria(HPO:0001992)
                   Dicarboxylic aciduria(HPO:0003215)
                      Methylmalonic aciduria(HPO:0012120)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of amino acid metabolism(HPO:0004337)
          Methylmalonic aciduria(HPO:0012120)
Investigations(MedDRA:10022891)
    Protein and chemistry analyses NEC(MedDRA:10037000)
       Protein analyses NEC(MedDRA:10036998)
          Abnormality of amino acid metabolism(HPO:0004337)
             Methylmalonic aciduria(HPO:0012120)
Metabolism and nutrition disorders(MedDRA:10027433)
    Protein and amino acid metabolism disorders NEC(MedDRA:10037008)
       Amino acid metabolism disorders NEC(MedDRA:10036999)
          Abnormality of amino acid metabolism(HPO:0004337)
             Methylmalonic aciduria(HPO:0012120)
Database Frequency: 20 / 7739
Resource:

All diseases associated with this symptom:

Combined malonic and methylmalonic acidemia (Orphanet:289504)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Methylcobalamin deficiency type cblDv1 (Orphanet:308380)
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency (Orphanet:308425)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblD (Orphanet:79283)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Methylmalonic acidemia with homocystinuria, type cblX (Orphanet:369962)
Methylmalonic aciduria due to transcobalamin receptor defect (Orphanet:280183)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Transcobalamin deficiency (Orphanet:859)
Vitamin B12-responsive methylmalonic acidemia (Orphanet:28)
Vitamin B12-responsive methylmalonic acidemia type cblA (Orphanet:79310)
Vitamin B12-responsive methylmalonic acidemia type cblB (Orphanet:79311)
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (Orphanet:308442)
Vitamin B12-unresponsive methylmalonic acidemia (Orphanet:27)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
Vitamin B12-unresponsive methylmalonic acidemia type mut0 (Orphanet:289916)