EMPF2
MCID: ENC049
MIFTS: 21

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

Categories: Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

MalaCards integrated aliases for Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2:

Name: Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 57 75 29 6
Empf2 57 75
Leigh-Like Basal Ganglia Disease-Optic Atrophy-Peripheral Neuropathy Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
death in childhood may occur


HPO:

32
encephalopathy due to defective mitochondrial and peroxisomal fission 2:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

OMIM : 57 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 (614388). (617086)

MalaCards based summary : Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2, is also known as empf2. An important gene associated with Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 is MFF (Mitochondrial Fission Factor). Affiliated tissues include eye, and related phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : 75 Encephalopathy due to defective mitochondrial and peroxisomal fission 2: 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.

Related Diseases for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

Diseases in the Encephalopathy family:

Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2

Symptoms & Phenotypes for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
absent speech
inability to walk
more
Head And Neck Head:
microcephaly

Neurologic Peripheral Nervous System:
peripheral neuropathy

Laboratory Abnormalities:
defect in mitochondrial fission
defect in peroxisomal fission
serum lactate may be normal of increased
fibroblasts show elongated peroxisomes
fibroblasts show elongated mitochondria

Abdomen Gastrointestinal:
dysphagia

Head And Neck Eyes:
visual impairment
optic atrophy
external ophthalmoplegia
poor or absent fixation

Muscle Soft Tissue:
hypotonia, severe


Clinical features from OMIM:

617086

Human phenotypes related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 hyperreflexia 32 HP:0001347
4 dysphagia 32 HP:0002015
5 global developmental delay 32 HP:0001263
6 microcephaly 32 HP:0000252
7 visual impairment 32 HP:0000505
8 optic atrophy 32 HP:0000648
9 peripheral neuropathy 32 HP:0009830
10 absent speech 32 HP:0001344
11 inability to walk 32 HP:0002540
12 cerebellar atrophy 32 HP:0001272
13 severe muscular hypotonia 32 HP:0006829
14 external ophthalmoplegia 32 HP:0000544
15 hypsarrhythmia 32 HP:0002521

Drugs & Therapeutics for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

Search Clinical Trials , NIH Clinical Center for Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2

Genetic Tests for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

Genetic tests related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2:

# Genetic test Affiliating Genes
1 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 29 MFF

Anatomical Context for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

MalaCards organs/tissues related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2:

41
Eye

Publications for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

Variations for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

ClinVar genetic disease variations for Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MFF NM_020194.5(MFF): c.190C> T (p.Gln64Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514615 GRCh37 Chromosome 2, 228195493: 228195493
2 MFF NM_020194.5(MFF): c.190C> T (p.Gln64Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514615 GRCh38 Chromosome 2, 227330777: 227330777
3 MFF NM_001277061.1(MFF): c.184dupC (p.Leu62Profs) duplication Pathogenic rs886037862 GRCh37 Chromosome 2, 228195487: 228195487
4 MFF NM_001277061.1(MFF): c.184dupC (p.Leu62Profs) duplication Pathogenic rs886037862 GRCh38 Chromosome 2, 227330771: 227330771
5 MFF NM_001277061.1(MFF): c.892C> T (p.Arg298Ter) single nucleotide variant Pathogenic rs753829320 GRCh37 Chromosome 2, 228220472: 228220472
6 MFF NM_001277061.1(MFF): c.892C> T (p.Arg298Ter) single nucleotide variant Pathogenic rs753829320 GRCh38 Chromosome 2, 227355756: 227355756
7 MFF NM_001277061.1(MFF): c.453_454delAA (p.Glu153Alafs) deletion Pathogenic rs879255690 GRCh37 Chromosome 2, 228205031: 228205032
8 MFF NM_001277061.1(MFF): c.453_454delAA (p.Glu153Alafs) deletion Pathogenic rs879255690 GRCh38 Chromosome 2, 227340315: 227340316
9 MFF NM_001277061.1(MFF): c.362del (p.Thr121Serfs) deletion Pathogenic GRCh37 Chromosome 2, 228197237: 228197237
10 MFF NM_001277061.1(MFF): c.362del (p.Thr121Serfs) deletion Pathogenic GRCh38 Chromosome 2, 227332521: 227332521

Expression for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

Search GEO for disease gene expression data for Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2.

Pathways for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

GO Terms for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

Sources for Encephalopathy Due to Defective Mitochondrial and Peroxisomal...

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