DDC gene related symptoms and diseases
All the information presented here about the DDC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DDC gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Athetosis | Very Common - Between 80% and 100% cases |
Cyanosis | Very Common - Between 80% and 100% cases |
Choreoathetosis | Very Common - Between 80% and 100% cases |
Abnormality of the face | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DDC gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Leukodystrophy
- Cardiac arrest
- Muscle stiffness
- Abnormal autonomic nervous system physiology
- Drooling
- Hyperkinesis
- Emotional lability
- Agitation
And 40 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DDC gene
Here you will find a list of rare diseases related to the DDC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
Alternate names
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency, aadc deficiency, dopa decarboxylase deficiency
Description
Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.
Most common symptoms of AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Pain
- Ptosis
More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
Search interest in DDC
Potential gene panels for DDC gene
Dystonia Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelMovement Disorders Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panelDystonia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panelNGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB
More info about this panelDystonia (NGS panel for 43 genes) Panel
By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panelDDC Sequence Analysis Panel
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the DDC gene.
More info about this panelAromatic L-Amino Acid Decarboxylase Deficiency Panel
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the DDC gene.
More info about this panelAromatic L-amino Acid Decarboxylase Deficiency via DDC Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the DDC gene.
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelAromatic L-amino acid decarboxylase deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DDC gene.
More info about this panelInvitae Neurotransmitter Disorders Panel Panel
By Invitae Invitae Neurotransmitter Disorders Panel that also includes the following genes: SLC6A3 SLC6A5 SPR TH ARHGEF9 GPHN PSAT1 SLC25A22 ABAT DBH
More info about this panelDystonia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelSerotonin Metabolism Deficiency NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Serotonin Metabolism Deficiency NGS Panel that also includes the following genes: SLC6A4 TPH1 AANAT TPH2 HTR3C HTR3E DDC HTR1A HTR1B HTR2A
More info about this panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelDDC Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DDC gene.
More info about this panelComprehensive Epilepsy Panel Panel
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panelAromatic L-amino Acid Decarboxylase Deficiency , Sequencing DDC Gene Panel
By Reference Laboratory Genetics
This panel specifically test the DDC gene.
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