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
Mendelian

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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

SOURCES: ORPHANET MESH OMIM


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

ALDH4A1 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALDH4A1 gene.

More info about this panel

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

ALDH4A1 Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALDH4A1 gene.

More info about this panel

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

ALDH4A1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALDH4A1 gene.

More info about this panel

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

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

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

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

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

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

Single gene testing ALDH4A1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ALDH4A1 gene.

More info about this panel

ALDH4A1 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the ALDH4A1 gene.

More info about this panel

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

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

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

Invitae Hyperprolinemia Panel Panel

United States.

By Invitae Invitae Hyperprolinemia Panel that also includes the following genes: ALDH4A1 PRODH

More info about this panel

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

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

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

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

ALDH4A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALDH4A1 gene.

More info about this panel

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

Hyperprolinemia type II Panel

Spain.

By Bioarray

This panel specifically test the ALDH4A1 gene.

More info about this panel

HYPERPROLINEMIA TYPE 2 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ALDH4A1 gene.

More info about this panel

Hyperprolinemia Type II, Sequencing ALDH4A1 gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ALDH4A1 gene.

More info about this panel


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