Aminoaciduria

Symptom Information:

Symptom ID: HPO:0003355
Synonyms:
Abnormal urinary amino-acid findings [HPO:0003355]
Aminoaciduria (disorder) [Orphanet:49360]
Aminoaciduria [Orphanet:49360]
Aminoaciduria [OMIM:Aminoaciduria]
Aminoacid metabolism anomalies/aminoaciduria [Orphanet:49360]
Aminoaciduria [MedDRA:10001939]
Aminoaciduria (1 patient) [OMIM:Aminoaciduria (1 patient)]
Aminoaciduria (less common) [OMIM:Aminoaciduria (less common)]
Aminoaciduria (mild in heterozygotes) [OMIM:Aminoaciduria (mild in heterozygotes)]
Aminoaciduria (rare) [OMIM:Aminoaciduria (rare)]
Quality:
Cross references:
Orphanet:49360 "Aminoacid metabolism anomalies/aminoaciduria" [Orphanet:49360]
OMIM: "Aminoaciduria" [OMIM:Aminoaciduria]
OMIM: "Aminoaciduria (1 patient)" [OMIM:Aminoaciduria (1 patient)]
OMIM: "Aminoaciduria (less common)" [OMIM:Aminoaciduria (less common)]
OMIM: "Aminoaciduria (mild in heterozygotes)" [OMIM:Aminoaciduria (mild in heterozygotes)]
OMIM: "Aminoaciduria (rare)" [OMIM:Aminoaciduria (rare)]
UMLS:C0238621 "Aminoaciduria" [HPO:0003355]
UMLS:C0238621 "Aminoaciduria" [Orphanet:49360]
Is a (Direct Parents):
HPO         Aciduria
HPO         Elevated urinary aminoisobutyric acid
HPO         Abnormality of amino acid metabolism
Orphanet Abnormality of metabolism/homeostasis
MedDRA Abnormality of amino acid metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of urine homeostasis(HPO:0003110)
             Aciduria(HPO:0012072)
                Aminoaciduria(HPO:0003355)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of amino acid metabolism(HPO:0004337)
                Aminoaciduria(HPO:0003355)
       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)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of amino acid metabolism(HPO:0004337)
          Aminoaciduria(HPO:0003355)
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)
             Aminoaciduria(HPO:0003355)
Investigations(MedDRA:10022891)
    Protein and chemistry analyses NEC(MedDRA:10037000)
       Protein analyses NEC(MedDRA:10036998)
          Abnormality of amino acid metabolism(HPO:0004337)
             Aminoaciduria(HPO:0003355)
Database Frequency: 65 / 7739
Resource:

All diseases associated with this symptom:

2-aminoadipic 2-oxoadipic aciduria (Orphanet:79154)
3-hydroxyisobutyric aciduria (Orphanet:939)
AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY,OSTEOPOROSIS, AND ACIDOSIS (OMIM:204730)
Alpers syndrome (Orphanet:726)
Alpha-N-acetylgalactosaminidase deficiency type 2 (Orphanet:79280)
Argininemia (Orphanet:90)
Argininosuccinic aciduria (Orphanet:23)
BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF (OMIM:210100)
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY (OMIM:210550)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Classic galactosemia (Orphanet:79239)
Classical phenylketonuria (Orphanet:79254)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Cystinosis (Orphanet:213)
Cystinuria (Orphanet:214)
D-glyceric aciduria (Orphanet:941)
Dent disease type 1 (Orphanet:93622)
Dent disease type 2 (Orphanet:93623)
Dicarboxylic aminoaciduria (Orphanet:2195)
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY (OMIM:614520)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
Encephalopathy due to hydroxykynureninuria (Orphanet:79155)
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THEYOUNG (OMIM:616026)
Fabry disease (Orphanet:324)
Fanconi renotubular syndrome 1 (OMIM:134600)
Formiminoglutamic aciduria (Orphanet:51208)
Fumaric aciduria (Orphanet:24)
GRACILE syndrome (Orphanet:53693)
Galactose epimerase deficiency (Orphanet:79238)
Hyperprolinemia type 1 (Orphanet:419)
Hyperprolinemia type 2 (Orphanet:79101)
ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA (OMIM:242550)
Isolated CoQ-cytochrome C reductase deficiency (Orphanet:1460)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
KETOADIPICACIDURIA (OMIM:245130)
Leprechaunism (Orphanet:508)
Lysinuric protein intolerance (Orphanet:470)
METHIONINE MALABSORPTION SYNDROME (OMIM:250900)
Maple syrup urine disease (Orphanet:511)
Maternal hyperphenylalaninemia (Orphanet:2209)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (Orphanet:255235)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
Mitochondrial DNA depletion syndrome, myopathic form (Orphanet:254875)
Neonatal hemochromatosis (Orphanet:446)
Neonatal severe primary hyperparathyroidism (Orphanet:417)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Orphanet:88639)
Oculocerebrorenal syndrome (Orphanet:534)
Odontotrichomelic syndrome (Orphanet:2723)
Ornithine transcarbamylase deficiency (Orphanet:664)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Pearson syndrome (Orphanet:699)
Primary hyperoxaluria type 2 (Orphanet:93599)
ROWLEY-ROSENBERG SYNDROME (OMIM:268500)
Rabson-Mendenhall syndrome (Orphanet:769)
Renal tubulopathy - encephalopathy - liver failure (Orphanet:254902)
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY (OMIM:616084)
TIGLIC ACIDEMIA (OMIM:275190)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Tyrosinemia type 1 (Orphanet:882)
Tyrosinemia type 2 (Orphanet:28378)
Wilson disease (Orphanet:905)
Zellweger syndrome (Orphanet:912)