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


Potential gene panels for ALDH3A2 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.

GeneAware Complete Panel Version 2 (Female) Panel

United States.

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 panel
United States.

GeneAware Complete Panel Version 2 (Male) Panel

United States.

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 panel
United States.

ALDH3A2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ALDH3A2 gene.

More info about this panel
Germany.

ALDH3A2 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ALDH3A2 gene.

More info about this panel
United States.

ALDH3A2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ALDH3A2 gene.

More info about this panel
Spain.

ALDH3A2. Detection of the mutation c.1297_1298delGA by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ALDH3A2 gene.

More info about this panel
Spain.

Sjogren-Larsson syndrome (sequence analysis of ALDH3A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALDH3A2 gene.

More info about this panel
Portugal.

Sjögren-Larsson syndrome (deletion/duplication analysis of ALDH3A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALDH3A2 gene.

More info about this panel
Portugal.

Sjögren-Larsson syndrome (deletion/duplication analysis of ALDH3A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALDH3A2 gene.

More info about this panel
Portugal.

Sjogren-Larsson Syndrome Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center

This panel specifically test the ALDH3A2 gene.

More info about this panel
Netherlands.

Sjogren-Larsson Syndrome via ALDH3A2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ALDH3A2 gene.

More info about this panel
United States.

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.

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.

Neurogenetic Disorders - panels Panel

Germany.

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 panel
Germany.

Sjogren-Larsson syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ALDH3A2 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.

Ichthyoses and related disorders of cornification Panel Panel

Germany.

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 panel
Germany.

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

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 panel
Germany.

Leukodystrophy / Leukoencephalopathy Panel Panel

Germany.

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 panel
Germany.

Family Prep Screen Panel

United States.

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 panel
United States.

Hereditary Neuropathies: Sequencing Panel Panel

United States.

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 panel
United States.

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

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 panel
United States.

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

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 panel
United States.

Sjogren-Larsson Syndrome (ALDH3A2) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the ALDH3A2 gene.

More info about this panel
United States.

Inheritest NGS, Comprehensive Panel

United States.

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 panel
United States.

Leukoencephalopathy NGS Panel Panel

United States.

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 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.

ALDH3A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALDH3A2 gene.

More info about this panel
United States.

Ichthyosis Panel Panel

Finland.

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 panel
Finland.

Leukodystrophy and Leukoencephalopathy Panel Panel

Finland.

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 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.

Sj���¶gren-Larsson syndrome Panel

Spain.

By Bioarray

This panel specifically test the ALDH3A2 gene.

More info about this panel
Spain.

SJOGREN-LARSSON SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ALDH3A2 gene.

More info about this panel
Spain.

Sjogren-Larsson Syndrome, Sequencing ALDH3A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ALDH3A2 gene.

More info about this panel
Spain.

planTrue Extended Panel

United States.

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 panel
United States.

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

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

More info about this panel
Canada.

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