ALDH5A1 gene related symptoms and diseases
All the information presented here about the ALDH5A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALDH5A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Choreoathetosis | Very Common - Between 80% and 100% cases |
| Generalized tonic-clonic seizures | Very Common - Between 80% and 100% cases |
| Abnormality of eye movement | Very Common - Between 80% and 100% cases |
| Sleep disturbance | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALDH5A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Generalized myoclonic seizures
- Aciduria
- Apraxia
- Status epilepticus
- Psychosis
- Clumsiness
- Abnormality of the eye
- Hallucinations
And 30 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALDH5A1 gene
Here you will find a list of rare diseases related to the ALDH5A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Alternate names
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as ssadh deficiency, 4-hydroxybutyric aciduria, gaba metabolic defect, gamma-hydroxybutyric aciduria
Description
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.
Most common symptoms of SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
More info about SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Search interest in ALDH5A1
Potential gene panels for ALDH5A1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
ALDH5A1 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDH5A1 gene.
More info about this panel United States.
ALDH5A1 Familial Mutation/Variant Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDH5A1 gene.
More info about this panel United States.
ALDH5A1 Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDH5A1 gene.
More info about this panel United States.
ALDH5A1 Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDH5A1 gene.
More info about this panel United States.
ALDH5A1 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDH5A1 gene.
More info about this panel United States.
Syndromic Autism Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1
More info about this panel United States.
Epilepsy/Seizure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panel United States.
Infantile Epilepsy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5
More info about this panel United States.
Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
ALDH5A1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALDH5A1 gene.
More info about this panel Spain.
Semialdehyde Dehydrogenase deficiency (sequence analysis of ALDH5A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALDH5A1 gene.
More info about this panel Portugal.
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panel United States.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
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 Germany.
Succinic semialdehyde dehydrogenase deficiency (ALDH5A1/SSADH) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the ALDH5A1 gene.
More info about this panel Netherlands.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
Succinic semialdehyde dehydrogenase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ALDH5A1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
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 Germany.
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 Germany.
Metabolic Epilepsy Panel Panel
Germany.
By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO
More info about this panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panel Germany.
Single gene testing ALDH5A1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ALDH5A1 gene.
More info about this panel Germany.
Succinic semialdehyde dehydrogenase Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ALDH5A1 gene.
More info about this panel Austria.
Succinic semialdehyde dehydrogenase Panel
Slovakia.
By MedGene
This panel specifically test the ALDH5A1 gene.
More info about this panel Slovakia.
Invitae Epilepsy Panel Panel
United States.
By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panel United States.
Invitae Rett and Angelman Syndromes and Related Disorders Panel Panel
United States.
By Invitae Invitae Rett and Angelman Syndromes and Related Disorders Panel that also includes the following genes: SCN8A SLC9A6 CDKL5 STXBP1 TCF4 UBE3A CNTNAP2 ZEB2 NGLY1 MBD5
More info about this panel United States.
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 United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
Rett, Syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Rett, Syndrome that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1
More info about this panel Spain.
Epilepsy and Seizure Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Autism Spectrum Disorders: Tier 2 Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Lysosomal Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panel United States.
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 United States.
ALDH5A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALDH5A1 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
Finland.
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panel Finland.
Ataxia Panel Panel
Finland.
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Metabolic Epilepsy Panel Panel
Finland.
By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT
More info about this panel Finland.
Fatty Acid Oxidation Syndrome Panel Panel
Finland.
By Blueprint Genetics Fatty Acid Oxidation Syndrome Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 ECHS1 ETFA ETFB
More info about this panel Finland.
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 Finland.
ALDH5A1 Sequence Analysis Panel
Iran.
By Genomic Research Center Shahid Beheshti University of Medical Sciences
This panel specifically test the ALDH5A1 gene.
More info about this panel Iran.
4-hydroxybutyric aciduria Panel
Spain.
By Bioarray
This panel specifically test the ALDH5A1 gene.
More info about this panel Spain.
ALDH5A1 Sequence Analysis Panel
Iran.
By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences
This panel specifically test the ALDH5A1 gene.
More info about this panel Iran.
Succinic Semialdehyde Dehydrogenase Deficiency , Sequencing ALDH5A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ALDH5A1 gene.
More info about this panel Spain.
Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes Panel
Spain.
By Reference Laboratory Genetics Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1
More info about this panel Spain.
Succinic Semialdehyde Dehydrogenase Deficiency: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ALDH5A1 gene.
More info about this panel Canada.
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