EMPF2
MCID: ENC049
MIFTS: 26

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 72 29 6
Empf2 57 72
Mff-Related Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 58
Leigh-Like Basal Ganglia Disease-Optic Atrophy-Peripheral Neuropathy Syndrome 58
Leigh-Like Encephalopathy-Optic Atrophy-Peripheral Neuropathy Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
death in childhood (in some patients)


HPO:

31
encephalopathy due to defective mitochondrial and peroxisomal fission 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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

OMIM® : 57 Encephalopathy due to defective mitochondrial and peroxisomal fission-2 (EMPF2) 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) (Updated 20-May-2021)

MalaCards based summary : Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2, also known as empf2, is related to encephalopathy and spasticity. 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 spasticity and hyperreflexia

UniProtKB/Swiss-Prot : 72 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
Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect

Diseases related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 encephalopathy 10.4
2 spasticity 10.4

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

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

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
2 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
3 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
4 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
5 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
6 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
7 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
8 abnormality of visual evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0000649
9 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
10 impaired use of nonverbal behaviors 58 31 frequent (33%) Frequent (79-30%) HP:0000758
11 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
12 profound global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0012736
13 optic disc pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000543
14 external ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000544
15 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
16 postnatal microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0005484
17 functional motor deficit 58 31 frequent (33%) Frequent (79-30%) HP:0004302
18 hypsarrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0002521
19 abnormal thalamic mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012696
20 abnormal basal ganglia mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012751
21 infantile axial hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0009062
22 sound sensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0025112
23 abnormal mitochondrial shape 58 31 frequent (33%) Frequent (79-30%) HP:0012087
24 nasogastric tube feeding 58 31 frequent (33%) Frequent (79-30%) HP:0040288
25 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
26 epileptic spasm 31 occasional (7.5%) HP:0011097
27 seizures 58 Frequent (79-30%)
28 eeg abnormality 58 Frequent (79-30%)
29 global developmental delay 31 HP:0001263
30 microcephaly 31 HP:0000252
31 absent speech 31 HP:0001344
32 peripheral neuropathy 31 HP:0009830
33 severe muscular hypotonia 31 HP:0006829
34 feeding difficulties 58 Frequent (79-30%)
35 inability to walk 31 HP:0002540
36 epileptic spasms 58 Occasional (29-5%)
37 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
absent speech
cerebellar atrophy
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

Head And Neck Ears:
hearing loss (in 1 patient)

Clinical features from OMIM®:

617086 (Updated 20-May-2021)

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:

40
Eye

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

Articles related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2:

# Title Authors PMID Year
1
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child. 61 57 6
32181496 2020
2
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. 57 6
26783368 2016
3
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 6 57
22499341 2012

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

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

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MFF NM_001277062.2(MFF):c.739C>T (p.Arg247Ter) SNV Pathogenic 253269 rs753829320 GRCh37: 2:228220472-228220472
GRCh38: 2:227355756-227355756
2 MFF NM_001277062.2(MFF):c.375_376del (p.Glu127fs) Deletion Pathogenic 253270 rs879255690 GRCh37: 2:228205028-228205029
GRCh38: 2:227340312-227340313
3 MFF NM_001277062.2(MFF):c.284del (p.Thr95fs) Deletion Pathogenic 545568 rs1285225437 GRCh37: 2:228197237-228197237
GRCh38: 2:227332521-227332521
4 MFF NM_001277062.2(MFF):c.106dup (p.Leu36fs) Duplication Pathogenic 253268 rs886037862 GRCh37: 2:228195485-228195486
GRCh38: 2:227330769-227330770
5 MFF NM_001277062.2(MFF):c.355C>T (p.Arg119Ter) SNV Pathogenic 996025 GRCh37: 2:228205011-228205011
GRCh38: 2:227340295-227340295
6 MFF NM_001277062.2(MFF):c.-40-842dup Duplication Pathogenic 1033934 GRCh37: 2:228194498-228194499
GRCh38: 2:227329782-227329783
7 MFF NM_001277062.2(MFF):c.351_351+1insATCCGAGCAGT Insertion Pathogenic 1033935 GRCh37: 2:228197304-228197305
GRCh38: 2:227332588-227332589
8 MFF NM_001277062.2(MFF):c.440_441insACCT (p.Val148fs) Insertion Pathogenic 1033936 GRCh37: 2:228205094-228205095
GRCh38: 2:227340378-227340379
9 MFF NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) SNV Pathogenic 39831 rs397514615 GRCh37: 2:228195493-228195493
GRCh38: 2:227330777-227330777
10 MFF NM_001277062.2(MFF):c.678A>G (p.Ile226Met) SNV Uncertain significance 1033937 GRCh37: 2:228220411-228220411
GRCh38: 2:227355695-227355695
11 MFF NM_001277062.2(MFF):c.-41+1G>C SNV Uncertain significance 996863 GRCh37: 2:228193506-228193506
GRCh38: 2:227328790-227328790
12 MFF NM_001277062.2(MFF):c.749T>G (p.Ile250Ser) SNV Uncertain significance 1029745 GRCh37: 2:228221706-228221706
GRCh38: 2:227356990-227356990
13 MFF NM_001277062.2(MFF):c.856T>C (p.Trp286Arg) SNV Uncertain significance 1030331 GRCh37: 2:228221813-228221813
GRCh38: 2:227357097-227357097
14 MFF NM_001277062.2(MFF):c.337C>A (p.Pro113Thr) SNV Uncertain significance 634511 rs1414317381 GRCh37: 2:228197290-228197290
GRCh38: 2:227332574-227332574

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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