ALDH4A1 gene related symptoms and diseases
All the information presented here about the ALDH4A1 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 ALDH4A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Intellectual disability, mild | Very Common - Between 80% and 100% cases |
| Hyperglycinemia | Very Common - Between 80% and 100% cases |
| Hyperglycinuria | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALDH4A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hydroxyprolinuria
- Hyperprolinemia
- Prolinuria
Rare diseases associated to ALDH4A1 gene
Here you will find a list of rare diseases related to the ALDH4A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPERPROLINEMIA TYPE 2
Alternate names
HYPERPROLINEMIA TYPE 2 Is also known as delta1-pyrroline-5-carboxylate dehydrogenase deficiency, hpii, 1-pyrroline-5-carboxylate dehydrogenase deficiency
Description
Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
Most common symptoms of HYPERPROLINEMIA TYPE 2
- Intellectual disability
- Seizures
- Intellectual disability, mild
- Hyperglycinemia
- Hyperglycinuria
More info about HYPERPROLINEMIA TYPE 2
Search interest in ALDH4A1
Potential gene panels for ALDH4A1 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.
ALDH4A1 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDH4A1 gene.
More info about this panel United States.
ALDH4A1 Familial Mutation/Variant Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDH4A1 gene.
More info about this panel United States.
ALDH4A1 Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDH4A1 gene.
More info about this panel United States.
ALDH4A1 Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDH4A1 gene.
More info about this panel United States.
ALDH4A1 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDH4A1 gene.
More info about this panel United States.
ALDH4A1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALDH4A1 gene.
More info about this panel Spain.
Hyperprolinemia type II (sequence analysis of ALDH4A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALDH4A1 gene.
More info about this panel Portugal.
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.
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.
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.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
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 panel Germany.
Single gene testing ALDH4A1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ALDH4A1 gene.
More info about this panel Germany.
ALDH4A1 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the ALDH4A1 gene.
More info about this panel Austria.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
United States.
By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panel United States.
Invitae Elevated Proline Panel Panel
United States.
By Invitae Invitae Elevated Proline Panel that also includes the following genes: ALDH4A1 PRODH
More info about this panel United States.
Invitae Hyperprolinemia Panel Panel
United States.
By Invitae Invitae Hyperprolinemia Panel that also includes the following genes: ALDH4A1 PRODH
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.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
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.
ALDH4A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALDH4A1 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.
Hyperprolinemia type II Panel
Spain.
By Bioarray
This panel specifically test the ALDH4A1 gene.
More info about this panel Spain.
HYPERPROLINEMIA TYPE 2 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ALDH4A1 gene.
More info about this panel Spain.
Hyperprolinemia Type II, Sequencing ALDH4A1 gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ALDH4A1 gene.
More info about this panel Spain.
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