MPC1 gene related symptoms and diseases

All the information presented here about the MPC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MPC1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Acidosis Very Common - Between 80% and 100% cases
Rotary nystagmus Very Common - Between 80% and 100% cases
Organic aciduria Very Common - Between 80% and 100% cases
Progressive microcephaly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MPC1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Wide intermamillary distance
  • Increased serum lactate
  • Lactic acidosis
  • Hypoglycemia
  • Thin upper lip vermilion
  • Babinski sign
  • Global developmental delay
  • Encephalopathy

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MPC1 gene

Here you will find a list of rare diseases related to the MPC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY


Description

Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).

Most common symptoms of MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


More info about MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for MPC1 gene

Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via MPC1 (BRP44L) Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MPC1 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

Mitochondrial pyruvate carrier deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MPC1 gene.

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

Invitae Pyruvate Dehydrogenase Deficiency Panel Panel

United States.

By Invitae Invitae Pyruvate Dehydrogenase Deficiency Panel that also includes the following genes: LIAS PDHX MPC1 DLAT DLD PDHA1 PDHB PDP1

More info about this panel

MPC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MPC1 gene.

More info about this panel


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