Neurotransmitter disorders
Gene: DDC
The DDC gene codes for the enzyme aromatic L-amino acid decarboxylase (AADC) which is responsible for the synthesis of L-dopa into dopamine and 5-HTP into serotonin. Pathogenic variants lead to Aromatic L-amino acid decarboxylase deficiency (AADCD), which is a rare autosomal recessive neurometabolic disorder. So far, in 123 known patients, 79 disease-causing variants in the DDC gene have been described and listed in the locus specific database PNDdb (http://biopku.org/home/pnddb.asp ) (Himmelreich, 2019). Patients with AADCD have a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Most common signs and symptoms, according to the consensus paper of Wassenberg et al. (2017), are hypotonia, movement disorders, developmental delay and autonomic symptoms. Between movement disorders manifestations, oculogyric crisis (91/117 patients, 78%), dystonia (63/177 p, 54%) and hypokinesia (40/117 p, 34%) are the most described. Often reported autonomic signs are ptosis, excessive sweating, and nasal congestion (no numbers given).Created: 25 Feb 2020, 1:11 p.m. | Last Modified: 25 Feb 2020, 1:11 p.m.
Panel Version: 1.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aromatic L-amino acid decarboxylase deficiency 608643; floppy child; dystonia; hypotonia; developmental delay; oculogyric crisis
Publications
Comment on publications: 27830117Created: 25 May 2017, 4:27 p.m.
Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotypeCreated: 25 May 2017, 9:22 a.m.
Comment on publications: In OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.Created: 25 May 2017, 9:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency, 608643 to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Publications for gene: DDC were set to 27604308; 24816252; 27830117
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for DDC were set to 27604308; 24816252; 27830117
Publications for DDC were set to 27604308; 24816252
This gene has been classified as Green List (High Evidence).
DDC was added to Neurotransmitter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Publications for DDC were set to 27604308;24816252
Phenotypes for DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643
DDC was created by Manju
DDC was added to Neurotransmitter disorderspanel. Sources: Literature