OPLAH gene related symptoms and diseases

All the information presented here about the OPLAH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to OPLAH gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Metabolic acidosis Very Common - Between 80% and 100% cases
Increased level of L-pyroglutamic acid in urine Very Common - Between 80% and 100% cases
Hyperprolinemia Very Common - Between 80% and 100% cases
Prolinuria Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with OPLAH gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Calcium oxalate nephrolithiasis
  • Enterocolitis
  • Hyperbilirubinemia
  • Hypocalcemia
  • Cyanosis
  • Generalized tonic-clonic seizures
  • Pain
  • Muscular dystrophy

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to OPLAH gene

Here you will find a list of rare diseases related to the OPLAH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


5-OXOPROLINASE DEFICIENCY


Alternate names

5-OXOPROLINASE DEFICIENCY Is also known as oxoprolinuria due to oxoprolinase deficiency, oxoprolinuria due to 5-oxoprolinase deficiency

Description

5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.

Most common symptoms of 5-OXOPROLINASE DEFICIENCY

  • Seizures
  • Pain
  • Respiratory distress
  • Vomiting
  • Diarrhea


More info about 5-OXOPROLINASE DEFICIENCY

SOURCES: ORPHANET MESH OMIM


Potential gene panels for OPLAH gene

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

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

5-oxoprolinase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the OPLAH gene.

More info about this panel

Invitae Organic Acidemias Panel Panel

United States.

By Invitae Invitae Organic Acidemias Panel that also includes the following genes: SLC25A1 BTD SUCLA2 SUCLG1 TAZ MCEE MMAA MMAB L2HGDH SERAC1

More info about this panel

OPLAH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the OPLAH gene.

More info about this panel


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