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.

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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

SOURCES: OMIM ORPHANET


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

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

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

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

Mitochondrial encephalomyopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MFF gene.

More info about this panel

MFF Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MFF gene.

More info about this panel


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