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.

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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

SOURCES: MESH ORPHANET OMIM


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

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

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

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 OGDH Panel

Germany.

By CeGaT GmbH

This panel specifically test the OGDH gene.

More info about this panel

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

OGDH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the OGDH gene.

More info about this panel


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