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.

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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

SOURCES: OMIM MESH ORPHANET


Potential gene panels for DDC gene

Dystonia Panel

United States.

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 panel

Movement Disorders Panel Panel

United States.

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 panel

Dystonia Exome Panel Panel

United States.

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 panel

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

Netherlands.

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 panel

Dystonia (NGS panel for 43 genes) Panel

Portugal.

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 panel

DDC Sequence Analysis Panel

Netherlands.

By Translational Metabolic Laboratory Radboud University Medical Centre

This panel specifically test the DDC gene.

More info about this panel

Aromatic L-Amino Acid Decarboxylase Deficiency Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center

This panel specifically test the DDC gene.

More info about this panel

Aromatic L-amino Acid Decarboxylase Deficiency via DDC Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DDC gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

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 panel

CentoICU platinum plus Panel

Germany.

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 panel

New Born testing (CentoICU) Panel

Germany.

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 panel

Aromatic L-amino acid decarboxylase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DDC gene.

More info about this panel

Invitae Neurotransmitter Disorders Panel Panel

United States.

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 panel

Dystonia: Sequencing Panel Panel

United States.

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 panel

Serotonin Metabolism Deficiency NGS Panel Panel

United States.

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 panel

Nuclear-Mito NGS Panel Panel

United States.

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 panel

DDC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DDC gene.

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

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 panel

Aromatic L-amino Acid Decarboxylase Deficiency , Sequencing DDC Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DDC gene.

More info about this panel


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