ALDH6A1 gene related symptoms and diseases
All the information presented here about the ALDH6A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALDH6A1 gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Very Common - Between 80% and 100% cases |
Long philtrum | Very Common - Between 80% and 100% cases |
Tented upper lip vermilion | Very Common - Between 80% and 100% cases |
Infantile muscular hypotonia | Very Common - Between 80% and 100% cases |
Postnatal microcephaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALDH6A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Aciduria
- Underdeveloped nasal alae
- Delayed myelination
- Metabolic acidosis
- Bulbous nose
- Hepatic failure
- Lactic acidosis
- Sparse hair
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALDH6A1 gene
Here you will find a list of rare diseases related to the ALDH6A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Alternate names
DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency, developmental delay due to aldh6a1 deficiency, developmental delay due to mmsdh deficiency
Description
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.
Most common symptoms of DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Hypertelorism
- Abnormal facial shape
More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Search interest in ALDH6A1
Potential gene panels for ALDH6A1 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 panelMethylmalonic Acidemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Methylmalonic Acidemia Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB MMADHC ACSF3 MLYCD ALDH6A1
More info about this panelOrganic Aciduria Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Organic Aciduria Sequencing Panel with CNV Detection that also includes the following genes: SLC25A1 CD320 MCEE MMAA MMAB L2HGDH MMACHC MMADHC DBT ACSF3
More info about this panelDisorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panelMethylmalonate Semialdehyde Dehydrogenase Deficiency via ALDH6A1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ALDH6A1 gene.
More info about this panelMethylmalonate semialdehyde dehydrogenase (MMSDH) deficiency (ALDH6A1) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the ALDH6A1 gene.
More info about this panelComprehensive mitochondrial disorders panel Panel
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 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 panelMethylmalonate semialdehyde dehydrogenase deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ALDH6A1 gene.
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelCobalamin Homocysteine Methionine Deficiency NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Cobalamin Homocysteine Methionine Deficiency NGS Panel that also includes the following genes: TCN2 CBS CD320 MCEE MMAA MMAB LMBRD1 MMACHC CTH MMADHC
More info about this panelMethylmalonic Acid Metabolism NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Methylmalonic Acid Metabolism NGS Panel that also includes the following genes: SUCLA2 SUCLG1 TCN2 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC
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 panelALDH6A1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALDH6A1 gene.
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