Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Ontology Browser
Term:
aromatic L-amino acid decarboxylase deficiency (DOID:0090123)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
2-aminoadipic 2-oxoadipic aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric Aciduria 
5-Oxoprolinase Deficiency  
Adams Nance Syndrome 
adenylosuccinase lyase deficiency  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism +   
alkaptonuria +   
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Aminoacylase 1 Deficiency  
Arakawa Syndrome 2 
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. (DO)
Asparagine Synthetase Deficiency  
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
Blue Diaper Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
Camptodactyly Taurinuria 
carboxypeptidase N deficiency  
cerebral creatine deficiency syndrome +   
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Dimethylglycine Dehydrogenase Deficiency  
diphthamide deficiency syndrome +   
fumarase deficiency  
GABA aminotransferase deficiency  
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucoglycinuria 
Glutamate Monosodium Sensitivity 
glutamate-cysteine ligase deficiency  
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
glutathione synthetase deficiency +   
glycine encephalopathy +   
Glycinuria with or without Oxalate Urolithiasis  
Hartnup disease  
histidine metabolism disease +   
HMG-CoA synthase 2 deficiency  
homocystinuria +   
homocystinuria-megaloblastic anemia cblG type  
hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy  
Hypertryptophanemia +   
Ichthyosis, Split Hairs, and Amino Aciduria 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Isobutyryl-CoA Dehydrogenase Deficiency  
isolated sulfite oxidase deficiency  
isovaleric acidemia  
Ketoadipicaciduria 
leucine-sensitive hypoglycemia of infancy  
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Maleylacetoacetate Isomerase Deficiency  
maple syrup urine disease +   
Mercaptolactate-Cysteine Disulfiduria 
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
mitochondrial DNA depletion syndrome 5  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
nuclear type mitochondrial complex I deficiency 20  
organic acidemia +   
oxoglutarate dehydrogenase deficiency  
pentosuria  
phenylketonuria +   
prolidase deficiency  
propionic acidemia +   
Richards-Rundle Syndrome 
sarcosinemia  
serine deficiency +   
succinic semialdehyde dehydrogenase deficiency  
systemic primary carnitine deficiency disease  
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +   
Tiglic Acidemia 
Tryptophanuria with Dwarfism 
tyrosinemia +   
Tyrosinosis 
urea cycle disorder +   
Valinemia +   
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  

Synonyms
Exact Synonyms: AADC deficiency ;   AADCD ;   DDC deficiency ;   DOPA decarboxylase deficiency ;   aromatic amino acid decarboxylase deficiency ;   deficiency of aromatic-L-amino-acid decarboxylase
Primary IDs: MESH:C537437
Alternate IDs: OMIM:608643
Xrefs: GARD:770 ;   ICD10CM:E70.81 ;   NCI:C142085 ;   ORDO:35708
Definition Sources: https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency "DO" "DO", https://www.omim.org/entry/608643 "DO" "DO"

paths to the root