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.
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
Search interest in OPLAH
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 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.
5-oxoprolinase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the OPLAH gene.
More info about this panel Germany.
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 United States.
OPLAH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the OPLAH gene.
More info about this panel United States.
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