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DDC

Synonyms
AADC
External resources
Summary
The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
12
Likely pathogenic
3
VUS
2,297
Likely benign
2,598
Benign
109

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on DDC gene are displayed below. The following symptoms were found in patients with a variant in DDC. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.7%
Abnormality of head or neck
40%
Abnormality of the eye
40%
Abnormality of the musculoskeletal system
40%
Abnormality of the genitourinary system
33.3%
Abnormality of limbs
26.7%
Abnormality of the cardiovascular system
26.7%
Abnormality of the integument
13.3%
Growth abnormality
13.3%
Abnormal cellular phenotype
6.7%
Abnormality of blood and blood forming tissues
6.7%
Abnormality of metabolism homeostasis
6.7%
Abnormality of prenatal development or birth
6.7%
Abnormality of the breast
6.7%
Abnormality of the ear
6.7%
Abnormality of the immune system
6.7%
Abnormality of the respiratory system
6.7%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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