ALDH3A2 gene related symptoms and diseases
All the information presented here about the ALDH3A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALDH3A2 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Hyperkeratosis | Very Common - Between 80% and 100% cases |
Seizures | Very Common - Between 80% and 100% cases |
Macular degeneration | Very Common - Between 80% and 100% cases |
Ichthyosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALDH3A2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Erythema
- Photophobia
- Spastic diplegia
- Myopia
- Spasticity
- Short stature
Not very common - Between 30% and 50% cases
- Congenital ichthyosiform erythroderma
- Hypoplasia of dental enamel
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALDH3A2 gene
Here you will find a list of rare diseases related to the ALDH3A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SJÖGREN-LARSSON SYNDROME
Alternate names
SJÖGREN-LARSSON SYNDROME Is also known as fatty acid alcohol oxidoreductase deficiency
Description
Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
Most common symptoms of SJÖGREN-LARSSON SYNDROME
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Scoliosis
More info about SJÖGREN-LARSSON SYNDROME
SOURCES: ORPHANET
SJOGREN-LARSSON SYNDROME; SLS
Alternate names
SJOGREN-LARSSON SYNDROME; SLS Is also known as ichthyosis, spastic neurologic disorder, and oligophrenia, faldh deficiency, fatty alcohol:nad+ oxidoreductase deficiency, fatty aldehyde dehydrogenase deficiency
Description
Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).
Most common symptoms of SJOGREN-LARSSON SYNDROME; SLS
- Intellectual disability
- Seizures
- Short stature
- Spasticity
- Myopia
More info about SJOGREN-LARSSON SYNDROME; SLS
SOURCES: OMIM
Search interest in ALDH3A2
Potential gene panels for ALDH3A2 gene
MitoMet®Plus aCGH Analysis Panel
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 panelGeneAware Complete Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Complete Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelALDH3A2 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ALDH3A2 gene.
More info about this panelALDH3A2 Gene Sequencing Panel
By GeneDx
This panel specifically test the ALDH3A2 gene.
More info about this panelALDH3A2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALDH3A2 gene.
More info about this panelALDH3A2. Detection of the mutation c.1297_1298delGA by sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALDH3A2 gene.
More info about this panelSjogren-Larsson syndrome (sequence analysis of ALDH3A2 gene) Panel
By CGC Genetics
This panel specifically test the ALDH3A2 gene.
More info about this panelSjögren-Larsson syndrome (deletion/duplication analysis of ALDH3A2 gene) Panel
By CGC Genetics
This panel specifically test the ALDH3A2 gene.
More info about this panelSjögren-Larsson syndrome (deletion/duplication analysis of ALDH3A2 gene) Panel
By CGC Genetics
This panel specifically test the ALDH3A2 gene.
More info about this panelSjogren-Larsson Syndrome Panel
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the ALDH3A2 gene.
More info about this panelSjogren-Larsson Syndrome via ALDH3A2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ALDH3A2 gene.
More info about this panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
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 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 panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelSjogren-Larsson syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ALDH3A2 gene.
More info about this panelAllNeuro panel Panel
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 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 panelIchthyoses and related disorders of cornification Panel Panel
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
More info about this panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panelLeukodystrophy / Leukoencephalopathy Panel Panel
By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1
More info about this panelFamily Prep Screen Panel
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panelHereditary Neuropathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelPan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panelHereditary Neuropathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelSjogren-Larsson Syndrome (ALDH3A2) Panel
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the ALDH3A2 gene.
More info about this panelInheritest NGS, Comprehensive Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panelLeukoencephalopathy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Leukoencephalopathy NGS Panel that also includes the following genes: SCP2 SLC25A12 ACOX1 MLC1 GJC2 ABAT CSF1R FAM126A DARS2 HEPACAM
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 panelALDH3A2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALDH3A2 gene.
More info about this panelIchthyosis Panel Panel
By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1
More info about this panelLeukodystrophy and Leukoencephalopathy Panel Panel
By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1
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 panelSj���¶gren-Larsson syndrome Panel
By Bioarray
This panel specifically test the ALDH3A2 gene.
More info about this panelSJOGREN-LARSSON SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ALDH3A2 gene.
More info about this panelSjogren-Larsson Syndrome, Sequencing ALDH3A2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ALDH3A2 gene.
More info about this panelplanTrue Extended Panel
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panelPan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
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