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Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:12 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 12 | Inability to walk, Seizure, Overactive reflexes (hyperreflexia) |
Muscles | 5 | Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), Muscle weakness |
Eyes | 3 | Damage to the optic nerve (optic atrophy), Visual impairment, Optic disc pallor |
Digestive system | 2 | Difficulty swallowing (dysphagia), Feeding difficulties |
Head and neck | 1 | Secondary microcephaly |
Growth and development | 1 | Growth delay |
MFF encodes mitochondrial fission factor (342 aa). Plays a role in mitochondrial and peroxisomal fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. Highest expression in Testis (231.4 TPM) and Brain Cerebellar Hemisphere (94.4 TPM).
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 is associated with mutations in the MFF gene on chromosome 2.
MFF is classified as a druggable target with score 0.0.
Genetic testing for MFF is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 28 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for encephalopathy due to defective mitochondrial and peroxisomal fission 2.
7 publications have been identified in PubMed for encephalopathy due to defective mitochondrial and peroxisomal fission 2. Research spans Basic Science / Preclinical (67%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).
Chen J (2026). [PMID: 42176859](https://pubmed.ncbi.nlm.nih.gov/42176859/). *Behav Brain Res*. [Basic Science / Preclinical]
Wang Y (2025). [PMID: 40125832](https://pubmed.ncbi.nlm.nih.gov/40125832/). *CNS Neurosci Ther*. [Basic Science / Preclinical]
Wang YX (2025). [PMID: 40540175](https://pubmed.ncbi.nlm.nih.gov/40540175/). *Mol Neurobiol*. [Basic Science / Preclinical]
Thaller M (2025). [PMID: 40190371](https://pubmed.ncbi.nlm.nih.gov/40190371/). *Neuroophthalmology*. [Case Report / Case Series]
Yang L (2025). [PMID: 41296099](https://pubmed.ncbi.nlm.nih.gov/41296099/). *Mol Neurobiol*. [Basic Science / Preclinical]
Messina M (2025). [PMID: 38872485](https://pubmed.ncbi.nlm.nih.gov/38872485/). *J Inherit Metab Dis*. [Review / Meta-Analysis]