MFF gene related symptoms and diseases
All the information presented here about the MFF gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MFF gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Encephalopathy | Very Common - Between 80% and 100% cases |
| Ophthalmoparesis | Very Common - Between 80% and 100% cases |
| External ophthalmoplegia | Very Common - Between 80% and 100% cases |
| Severe muscular hypotonia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MFF gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Clonus
- Hypsarrhythmia
- Optic disc pallor
- Epileptic encephalopathy
- Inability to walk
- Respiratory failure
- Visual loss
- Absent speech
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MFF gene
Here you will find a list of rare diseases related to the MFF. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT
Alternate names
MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT Is also known as leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome, leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
Description
Encephalopathy due to defective mitochondrial and peroxisomal fission-2 is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy (summary by Koch et al., 2016).For a discussion of genetic heterogeneity of EMPF, see EMPF1 (OMIM ).
Most common symptoms of MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Spasticity
More info about MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT
Search interest in MFF
Potential gene panels for MFF gene
Peroxisomal Disorders Sequencing Panel Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Peroxisomal Disorders Sequencing Panel that also includes the following genes: SCP2 ACOX1 CAT GDAP1 PEX26 MFF FAR1 DNM1L PEX5L AGPS
More info about this panel Czech Republic.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Mitochondrial encephalomyopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MFF gene.
More info about this panel Germany.
MFF Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MFF gene.
More info about this panel United States.
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