Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 (EMPF2)

Alias:
Empf2
Encephalopathy, Lethal, Due to Defective Mitochondrial and Peroxisomal Fission, Type 2
Mff-Related Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect
Leigh-Like Basal Ganglia Disease-Optic Atrophy-Peripheral Neuropathy Syndrome
Leigh-Like Encephalopathy-Optic Atrophy-Peripheral Neuropathy Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2, also known as empf2, is related to congenital hemidysplasia with ichthyosiform erythroderma and limb defects and spasticity. An important gene associated with Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 is MFF (Mitochondrial Fission Factor). Affiliated tissues include brain, and related phenotypes are seizure and spasticity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
6
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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