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.
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
Search interest in MPC1
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 United States.
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.
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 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.
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 United States.
MPC1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MPC1 gene.
More info about this panel United States.
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