Organic aciduria

Symptom Information:

Symptom ID: HPO:0001992
Synonyms:
Organic acid metabolism disorder [Orphanet:49340]
Organic aciduria [OMIM:Organic aciduria]
Organic acid metabolism anomalies [Orphanet:49340]
Organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine) [OMIM:Organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine)]
Organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate) [OMIM:Organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)]
Quality:
Cross references:
Orphanet:49340 "Organic acid metabolism anomalies" [Orphanet:49340]
OMIM: "Organic aciduria" [OMIM:Organic aciduria]
OMIM: "Organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine)" [OMIM:Organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine)]
OMIM: "Organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)" [OMIM:Organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)]
Is a (Direct Parents):
HPO         Aciduria
Orphanet Abnormality of metabolism/homeostasis
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)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of urine homeostasis(HPO:0003110)
             Aciduria(HPO:0012072)
                Organic aciduria(HPO:0001992)
MedDRA:
Database Frequency: 28 / 7739
Resource:

All diseases associated with this symptom:

2p21 microdeletion syndrome (Orphanet:163693)
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
3-hydroxy-3-methylglutaric aciduria (Orphanet:20)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency (Orphanet:35701)
3-methylglutaconic aciduria type 4 (Orphanet:67048)
4-hydroxybutyric aciduria (Orphanet:22)
Acyl-CoA dehydrogenase 9 deficiency (Orphanet:99901)
Amish lethal microcephaly (Orphanet:99742)
Arginine:glycine amidinotransferase deficiency (Orphanet:35704)
BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Barth syndrome (Orphanet:111)
Biotinidase deficiency (Orphanet:79241)
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (Orphanet:1369)
Hawkinsinuria (Orphanet:2118)
Holocarboxylase synthetase deficiency (Orphanet:79242)
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (Orphanet:363694)
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (Orphanet:6)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Leigh syndrome (Orphanet:506)
MELAS (Orphanet:550)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Malonic aciduria (Orphanet:943)
Neuroblastoma (Orphanet:635)
Oxoglutaricaciduria (Orphanet:31)
Pearson syndrome (Orphanet:699)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase phosphatase deficiency (Orphanet:79246)
Zellweger syndrome (Orphanet:912)