OGDH gene related symptoms and diseases
All the information presented here about the OGDH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to OGDH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Muscular hypotonia of the trunk | Very Common - Between 80% and 100% cases |
| Abnormal urine alpha-ketoglutarate concentration | Very Common - Between 80% and 100% cases |
| Congenital lactic acidosis | Very Common - Between 80% and 100% cases |
| Abnormal salivary gland morphology | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with OGDH gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Increased serum lactate
- Metabolic acidosis
- Lactic acidosis
- Abnormality of movement
- Hypoglycemia
- Short stature
- Acidosis
- Hypertonia
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to OGDH gene
Here you will find a list of rare diseases related to the OGDH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OXOGLUTARIC ACIDURIA
Alternate names
OXOGLUTARIC ACIDURIA Is also known as 2-ketoglutarate dehydrogenase deficiency, alpha-kgd deficiency, oxoglutaric aciduria, alpha-ketoglutarate dehydrogenase deficiency
Description
Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.
Most common symptoms of OXOGLUTARIC ACIDURIA
- Global developmental delay
- Short stature
- Generalized hypotonia
- Ataxia
- Muscular hypotonia
More info about OXOGLUTARIC ACIDURIA
Search interest in OGDH
Potential gene panels for OGDH 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.
Alpha-ketoglutarate dehydrogenase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the OGDH gene.
More info about this panel Germany.
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.
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 OGDH Panel
Germany.
By CeGaT GmbH
This panel specifically test the OGDH gene.
More info about this panel Germany.
Invitae 2-Ketoglutarate Dehydrogenase Deficiency Panel Panel
United States.
By Invitae Invitae 2-Ketoglutarate Dehydrogenase Deficiency Panel that also includes the following genes: SLC25A19 DLD OGDH
More info about this panel United States.
OGDH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the OGDH gene.
More info about this panel United States.
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