Aromatic L-amino acid decarboxylase deficiency

Preferred Label : Aromatic L-amino acid decarboxylase deficiency;

Symbol : AADCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dopa decarboxylase deficiency; Ddc deficiency; Aadc deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dopa decarboxylase gene (DDC, 107930.0001);

Laboratory abnormalities : Increased CSF, plasma, and urinary L-dopa; Decreased CSF homovanillic acid (HVA); Increased CSF, plasma, and urinary 3-ortho-methyldopa (3-OMD); Decreased plasma catecholamines; Decreased whole blood serotonin; Decreased activity of aromatic L-amino acid decarboxylase (AADC); Increased CSF, plasma, and urinary 5-hydroxytryptophan (5HTP); Increased CSF, plasma, and urinary 3-methoxytyrosine; Decreased CSF 5-hydroxyindoleacetic acid (5-HIAA); Increased urinary dopamine and dopamine metabolites (paradoxical);

Prefixed ID : #608643;

Details

Origin ID

608643;

UMLS CUI

C1291564;

Automatic exact mappings (from CISMeF team)
- Aromatic L-amino acid decarboxylase deficiency [MedDRA Preferred Term]
- Aromatic amino acid decarboxylase deficiency [MeSH concept]
Currated CISMeF NLP mapping
- Aromatic L-Amino-Acid Decarboxylase Deficiency [NCIt concept]
- Aromatic L-amino acid decarboxylase deficiency [ICD-11 More detail]
- Aromatic L-amino acid decarboxylase deficiency [ORDO Disease]
- Deficiency of aromatic-L-amino-acid decarboxylase (disorder) [SNOMED CT concept]
- aromatic L-amino acid decarboxylase deficiency [DO Concept]
- aromatic amino acid decarboxylase deficiency [MeSH Supplementary Concept]
- aromatic l amino acid decarboxylase deficiency [Disease (Nov.)]
DO Cross reference
- aromatic L-amino acid decarboxylase deficiency [DO Concept]
Genes related to phenotype
- Dopa decarboxylase [OMIM gene]
HPO term(s)
- Abnormality of the face [HPO term]
- Apnea [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Blepharospasm [HPO term]
- Cardiorespiratory arrest [HPO term]
- Choreoathetosis [HPO term]
- Constipation [HPO term]
- Diarrhea [HPO term]
- Diminished movement [HPO term]
- Emotional lability [HPO term]
- Exaggerated startle response [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hyperhidrosis [HPO term]
- Hyperreflexia [HPO term]
- Hypotension [HPO term]
- Infantile onset [HPO term]
- Intermittent hypothermia [HPO term]
- Irritability [HPO term]
- Lethargy [HPO term]
- Limb dystonia [HPO term]
- Limb hypertonia [HPO term]
- Limb tremor [HPO term]
- Miosis [HPO term]
- Myoclonus [HPO term]
- Nasal congestion [HPO term]
- Oculogyric crisis [HPO term]
- Ptosis [HPO term]
- Sleep disturbance [HPO term]
- Temperature instability [HPO term]
- Tongue thrusting [HPO term]
- Torticollis [HPO term]
ORDO concept(s)
- Aromatic L-amino acid decarboxylase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aromatic L-Amino-Acid Decarboxylase Deficiency [NCIt concept]
- Aromatic L-amino acid decarboxylase deficiency [MedDRA Preferred Term]
- Deficiency of aromatic-L-amino-acid decarboxylase (disorder) [SNOMED CT concept]
- aromatic L-amino acid decarboxylase deficiency [DO Concept]
- aromatic amino acid decarboxylase deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients