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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
19
Likely pathogenic
4
VUS
3,763
Likely benign
5,390
Benign
35

Patient phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on DDC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.8%
Abnormality of the musculoskeletal system
34.8%
Abnormality of head or neck
26.1%
Abnormality of the cardiovascular system
26.1%
Abnormality of the eye
26.1%
Abnormality of the genitourinary system
26.1%
Abnormality of limbs
17.4%
Growth abnormality
13%
Abnormality of the integument
8.7%
Abnormal cellular phenotype
4.3%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of prenatal development or birth
4.3%
Abnormality of the breast
4.3%
Abnormality of the digestive system
4.3%
Abnormality of the ear
4.3%
Abnormality of the immune system
4.3%
Abnormality of the respiratory system
4.3%
Abnormality of metabolism homeostasis
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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