DDC Chromosome 7
Dopa decarboxylase
Upload your DNA to see your personal genotypes for variants in DDC.
What This Gene Does
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. [provided by RefSeq, Jun 2011]
Associated Conditions (9)
Deficiency of aromatic-L-amino-acid decarboxylase
DDC-related disorder
Malignant tumor of esophagus
Adrenocortical carcinoma
hereditary
Global developmental delay
Inborn genetic diseases
See cases
RASopathy
Key Variants
RS11575291
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, DDC-related disorder, Deficiency of aromatic-L-amino-acid decarboxylase
Health Risk
RS11575376
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, Malignant tumor of esophagus, Adrenocortical carcinoma
Health Risk
RS200450773
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, Global developmental delay, Inborn genetic diseases
Health Risk
RS201828034
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
Health Risk
RS2042496890
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
Health Risk
RS2042651349
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
Health Risk
RS2044473963
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
Health Risk
RS2044474558
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
Health Risk
RS371117662
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
Health Risk
RS371336321
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
Health Risk
RS373041067
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, Inborn genetic diseases, Deficiency of aromatic-L-amino-acid decarboxylase
Health Risk
RS375716771
Conflicting classifications of pathogenicity
Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
Health Risk
All Variants (98)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11575291 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, DDC-related disorder, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS11575376 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Malignant tumor of esophagus, Adrenocortical carcinoma |
| RS200450773 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Global developmental delay, Inborn genetic diseases |
| RS201828034 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS2042496890 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS2042651349 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS2044473963 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS2044474558 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS371117662 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS371336321 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS373041067 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Inborn genetic diseases, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS375716771 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS377474761 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS377528325 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS527805112 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, DDC-related disorder, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS746729797 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, DDC-related disorder, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS749246611 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS751519679 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS753275419 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS755313812 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Inborn genetic diseases, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS756869400 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS764207146 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Inborn genetic diseases, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS766408460 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Inborn genetic diseases, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS767990522 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS770446305 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS770694855 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS773990125 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS886062372 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS971183744 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS1085307991 | Health Risk | Likely pathogenic | — |
| RS1237793828 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS1276093487 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS1289397237 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS1363559666 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS1450673278 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS1554411234 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS1585237892 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS200339845 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS2042728719 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS2043195305 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS2044098060 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS2044722637 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS2534986935 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS2535193057 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS376647978 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS748439275 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS768596169 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS779659084 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS915727399 | Health Risk | Likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS11575542 | Health Risk | Pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |