EMPF1
MCID: ENC057
MIFTS: 43

Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 (EMPF1)

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 1:

Name: Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 57 12 72 29 6 15
Encephalopathy, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1 57 29
Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 72 13
Empf1 57 72
Empf 57 72
Dnm1l-Related Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 58
Encephalopathy, Lethal, Due to Defective Mitochondrial and Peroxisomal Fission 70
Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1 72

Characteristics:

Orphanet epidemiological data:

58
dnm1l-related encephalopathy due to mitochondrial and peroxisomal fission defect
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
progressive disorder
variable features
onset in first days of life
some patients may have onset in mid-childhood
some patients may not have biochemical evidence of mitochondrial or peroxisomal dysfunction on standard screening


HPO:

31
encephalopathy due to defective mitochondrial and peroxisomal fission 1:
Onset and clinical course death in infancy variable expressivity progressive
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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

UniProtKB/Swiss-Prot : 72 Encephalopathy due to defective mitochondrial and peroxisomal fission 1: A rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After birth, infants present in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic acidosis, microcephaly, deep- set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both frontal lobes associated with dysmyelination.

MalaCards based summary : Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1, also known as encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, is related to encephalopathy due to defective mitochondrial and peroxisomal fission 2 and myopathy, lactic acidosis, and sideroblastic anemia 2, and has symptoms including hypotonia and abnormal pyramidal signs. An important gene associated with Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 is DNM1L (Dynamin 1 Like). Affiliated tissues include skeletal muscle, brain and eye, and related phenotypes are abnormality of the mitochondrion and nystagmus

Disease Ontology : 12 A syndrome that has material basis in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has symptom hypotonia that may lead to death in childhood.

OMIM® : 57 Encephalopathy due to defective mitochondrial and peroxisomal fission-1 (EMPF1) is characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. Many patients develop refractory seizures, consistent with an epileptic encephalopathy, and thereafter show neurologic decline. The age at onset, features, and severity are variable, and some patients may not have clinical evidence of mitochondrial or peroxisomal dysfunction (summary by Sheffer et al., 2016; Fahrner et al., 2016). (614388) (Updated 05-Apr-2021)

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 encephalopathy due to defective mitochondrial and peroxisomal fission 2 10.9
2 myopathy, lactic acidosis, and sideroblastic anemia 2 10.3 YARS2 DNM1L
3 myopathy, lactic acidosis, and sideroblastic anemia 10.3 YARS2 DNM1L
4 optic atrophy 5 10.2 YARS2 DNM1L
5 pearson marrow-pancreas syndrome 10.1 YARS2 POLG
6 skin amelanotic melanoma 10.1 FIS1 DNM1L
7 gait apraxia 10.1 MECP2 CDKL5
8 gene duplication disease 10.1 MECP2 CDKL5
9 christianson syndrome 10.0 MECP2 CDKL5
10 spinocerebellar ataxia 12 10.0 FIS1 DNM1L
11 febrile infection-related epilepsy syndrome 10.0 SCN1A POLG
12 plagiocephaly 10.0 SCN1A POLG
13 partial motor epilepsy 10.0 SCN1A POLG
14 hyperinsulinemic hypoglycemia, familial, 4 10.0 LGALS4 CEP55
15 developmental and epileptic encephalopathy 9 10.0 SCN1A CDKL5
16 epilepsy with generalized tonic-clonic seizures 10.0 SCN1A CDKL5
17 interstitial lung disease 9.9
18 pulmonary fibrosis 9.9
19 lung disease 9.9
20 obesity due to melanocortin 4 receptor deficiency 9.9 POLG DNM1L
21 benign familial neonatal epilepsy 9.9 SCN1A CDKL5
22 landau-kleffner syndrome 9.9 SCN1A MECP2
23 benign neonatal seizures 9.9 SCN1A CDKL5
24 mitochondrial myopathy 9.9 YARS2 POLG DNM1L
25 childhood electroclinical syndrome 9.9 SCN1A CDKL5
26 smith-magenis syndrome 9.9 MIEF2 MIEF1 MECP2
27 sturge-weber syndrome 9.8 SCN1A CDKL5
28 zellweger syndrome 9.8 PEX3 MFF FIS1 DNM1L
29 pyruvate dehydrogenase e1-alpha deficiency 9.8 SCN1A POLG CDKL5
30 developmental and epileptic encephalopathy 14 9.8 SCN1A MECP2 CDKL5
31 infancy electroclinical syndrome 9.8 SCN1A MECP2 CDKL5
32 epilepsy, idiopathic generalized 9.7 SCN1A POLG CDKL5
33 focal epilepsy 9.7 SCN1A MECP2 CDKL5
34 specific developmental disorder 9.7 SCN1A MECP2 CDKL5
35 pervasive developmental disorder 9.7 SCN1A MECP2 CDKL5
36 dravet syndrome 9.7 SCN1A MECP2 CDKL5
37 peripheral nervous system disease 9.7 POLG MFF FIS1 DNM1L
38 charcot-marie-tooth disease 9.6 YARS2 POLG MFF FIS1 DNM1L
39 neonatal period electroclinical syndrome 9.5 SCN1A POLG MECP2 CDKL5
40 lennox-gastaut syndrome 9.5 SCN1A POLG MECP2 CDKL5
41 early myoclonic encephalopathy 9.5 SCN1A POLG MECP2 CDKL5
42 seizure disorder 9.5 SCN1A POLG MECP2 CDKL5
43 early infantile epileptic encephalopathy 9.5 SCN1A POLG MECP2 CDKL5
44 optic atrophy 1 9.5 YARS2 MIEF2 MIEF1 MFF FIS1 DNM1L
45 encephalopathy 9.4 SCN1A POLG MECP2 DNM1L CDKL5
46 cranial nerve disease 9.4 POLG MIEF2 MIEF1 MFF FIS1 DNM1L
47 optic nerve disease 9.4 POLG MIEF2 MIEF1 MFF FIS1 DNM1L
48 benign epilepsy with centrotemporal spikes 9.4 SCN1A MECP2 CDKL5
49 microcephaly 9.1 SCN1A POLG MFF MECP2 DNM1L CDKL5
50 3-methylglutaconic aciduria, type iii 8.9 POLG MIEF2 MIEF1 MFF LGALS4 FIS1

Graphical network of the top 20 diseases related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1:



Diseases related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1

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

Human phenotypes related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the mitochondrion 58 31 hallmark (90%) Very frequent (99-80%) HP:0012103
2 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
3 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
6 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
7 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
8 status epilepticus 58 31 occasional (7.5%) Frequent (79-30%) HP:0002133
9 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
10 elevated brain lactate level by mrs 58 31 frequent (33%) Frequent (79-30%) HP:0012707
11 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
12 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
13 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
14 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
15 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
16 focal impaired awareness seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002384
17 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
18 hyperactive deep tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006801
19 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
20 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
21 diffuse cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002506
22 bilateral ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001488
23 delayed menarche 58 31 occasional (7.5%) Occasional (29-5%) HP:0012569
24 oculogyric crisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010553
25 epileptic encephalopathy 31 occasional (7.5%) HP:0200134
26 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
27 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
28 seizures 58 Frequent (79-30%)
29 failure to thrive 31 HP:0001508
30 abnormal pyramidal sign 31 HP:0007256
31 microcephaly 31 HP:0000252
32 generalized myoclonic seizures 58 Occasional (29-5%)
33 deeply set eye 31 HP:0000490
34 areflexia 31 HP:0001284
35 pointed chin 31 HP:0000307
36 decreased fetal movement 31 HP:0001558
37 dystonia 58 Occasional (29-5%)
38 encephalopathy 31 HP:0001298
39 lactic acidosis 31 HP:0003128
40 feeding difficulties 31 HP:0011968
41 generalized tonic-clonic seizures 58 Occasional (29-5%)
42 cerebral atrophy 31 HP:0002059
43 oculomotor apraxia 31 HP:0000657
44 brain imaging abnormality 58 Frequent (79-30%)
45 generalized hypotonia 31 HP:0001290
46 focal-onset seizure 58 Occasional (29-5%)
47 horizontal nystagmus 31 HP:0000666

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
poor feeding

Head And Neck Head:
microcephaly

Prenatal Manifestations Movement:
decreased fetal movement

Muscle Soft Tissue:
hypotonia
subsarcolemmal mitochondrial aggregates
skeletal muscle biopsy shows elongated mitochondria
abnormal mitochondrial concentric cristae
increased dense granules in mitochondria
more
Head And Neck Face:
pointed chin (patient a)

Head And Neck Eyes:
nystagmus
strabismus
oculomotor apraxia
poor visual fixation
deep-set eyes (patient a)
more
Neurologic Peripheral Nervous System:
areflexia

Neurologic Central Nervous System:
cerebral atrophy
hypotonia
pyramidal signs
seizures (in some patients)
delayed psychomotor development
more
Metabolic Features:
lactic acidosis (in some patients)

Laboratory Abnormalities:
increased serum and csf lactate (in some patients)
fibroblasts show decreased peroxisomes arranged in rows
fibroblasts show elongated, tangled, tubular mitochondria
defect in mitochondrial fission
defect in peroxisomal fission

Clinical features from OMIM®:

614388 (Updated 05-Apr-2021)

Symptoms:

12
  • hypotonia

UMLS symptoms related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1:


abnormal pyramidal signs

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 1

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

Genetic tests related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1:

# Genetic test Affiliating Genes
1 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 29 DNM1L
2 Encephalopathy, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1 29

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

MalaCards organs/tissues related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1:

40
Skeletal Muscle, Brain, Eye

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

Articles related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1:

(show all 15)
# Title Authors PMID Year
1
Novel and lethal case of cardiac involvement in DNM1L mitochondrial encephalopathy. 6 57
31587467 2019
2
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. 57 6
27328748 2016
3
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 57 6
27145208 2016
4
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 57 6
26604000 2016
5
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. 57 6
26992161 2016
6
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. 6 57
26931468 2016
7
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. 6 57
26825290 2016
8
A lethal defect of mitochondrial and peroxisomal fission. 6 57
17460227 2007
9
A lethal de novo mutation in the middle domain of the dynamin-related GTPase Drp1 impairs higher order assembly and mitochondrial division. 6
20696759 2010
10
The dynamin-like GTPase DLP1 is essential for peroxisome division and is recruited to peroxisomes in part by PEX11. 57
12618434 2003
11
Dynamin-like protein 1 is involved in peroxisomal fission. 57
12499366 2003
12
Mammalian dynamin-like protein DLP1 tubulates membranes. 57
11553726 2001
13
Dynamin-related protein Drp1 is required for mitochondrial division in mammalian cells. 57
11514614 2001
14
De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy. 61
33387674 2021
15
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. 61
30850373 2019

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

ClinVar genetic disease variations for Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1:

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNM1L , YARS2 NM_012062.5(DNM1L):c.1184C>A (p.Ala395Asp) SNV Pathogenic 6015 rs121908531 GRCh37: 12:32884052-32884052
GRCh38: 12:32731118-32731118
2 DNM1L NM_012062.5(DNM1L):c.346_347del (p.Glu116fs) Deletion Pathogenic 253264 rs879255687 GRCh37: 12:32861134-32861135
GRCh38: 12:32708200-32708201
3 DNM1L NM_012062.5(DNM1L):c.251-1532dup Duplication Pathogenic 253263 rs879255686 GRCh37: 12:32858768-32858769
GRCh38: 12:32705834-32705835
4 DNM1L , YARS2 NM_012062.5(DNM1L):c.1228G>A (p.Glu410Lys) SNV Pathogenic 985169 GRCh37: 12:32884317-32884317
GRCh38: 12:32731383-32731383
5 DNM1L , YARS2 NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys) SNV Pathogenic 619028 rs1565548029 GRCh37: 12:32895600-32895600
GRCh38: 12:32742666-32742666
6 DNM1L NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs) Duplication Pathogenic 689730 rs1592631789 GRCh37: 12:32873619-32873620
GRCh38: 12:32720685-32720686
7 DNM1L NM_012062.5(DNM1L):c.115A>G (p.Ser39Gly) SNV Pathogenic 974819 GRCh37: 12:32854361-32854361
GRCh38: 12:32701427-32701427
8 DNM1L NM_012062.5(DNM1L):c.106A>G (p.Ser36Gly) SNV Pathogenic 253266 rs879255688 GRCh37: 12:32854352-32854352
GRCh38: 12:32701418-32701418
9 DNM1L , YARS2 NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) SNV Pathogenic 214313 rs863223953 GRCh37: 12:32884296-32884296
GRCh38: 12:32731362-32731362
10 DNM1L , YARS2 NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) SNV Pathogenic 214313 rs863223953 GRCh37: 12:32884296-32884296
GRCh38: 12:32731362-32731362
11 DNM1L , YARS2 NM_012062.5(DNM1L):c.1084G>A (p.Gly362Ser) SNV Pathogenic 253262 rs886037861 GRCh37: 12:32883952-32883952
GRCh38: 12:32731018-32731018
12 DNM1L NM_012062.5(DNM1L):c.344C>G (p.Thr115Arg) SNV Likely pathogenic 931487 GRCh37: 12:32861133-32861133
GRCh38: 12:32708199-32708199
13 DNM1L , YARS2 NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys) SNV Likely pathogenic 619028 rs1565548029 GRCh37: 12:32895600-32895600
GRCh38: 12:32742666-32742666
14 DNM1L , YARS2 NM_012062.5(DNM1L):c.1915C>T (p.Arg639Trp) SNV Likely pathogenic 802836 rs1011225865 GRCh37: 12:32893373-32893373
GRCh38: 12:32740439-32740439
15 DNM1L , YARS2 NM_012062.5(DNM1L):c.1087G>A (p.Gly363Ser) SNV Likely pathogenic 976414 GRCh37: 12:32883955-32883955
GRCh38: 12:32731021-32731021
16 DNM1L , YARS2 NM_012062.5(DNM1L):c.1135G>A (p.Glu379Lys) SNV Likely pathogenic 374321 rs1057518694 GRCh37: 12:32884003-32884003
GRCh38: 12:32731069-32731069
17 DNM1L , YARS2 NM_012062.5(DNM1L):c.1108T>C (p.Phe370Leu) SNV Likely pathogenic 802833 rs1592661973 GRCh37: 12:32883976-32883976
GRCh38: 12:32731042-32731042
18 DNM1L , YARS2 NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe) SNV Likely pathogenic 243096 rs879253874 GRCh37: 12:32884426-32884426
GRCh38: 12:32731492-32731492
19 DNM1L , YARS2 NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) SNV Likely pathogenic 253261 rs879255685 GRCh37: 12:32883953-32883953
GRCh38: 12:32731019-32731019
20 DNM1L NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg) SNV Uncertain significance 253267 rs879255689 GRCh37: 12:32875536-32875536
GRCh38: 12:32722602-32722602
21 CEP55 NM_018131.5(CEP55):c.910A>T (p.Ile304Leu) SNV Uncertain significance 599328 rs765188763 GRCh37: 10:95276922-95276922
GRCh38: 10:93517165-93517165
22 OSBPL7 NM_145798.3(OSBPL7):c.1078G>A (p.Asp360Asn) SNV Uncertain significance 599329 rs1016471339 GRCh37: 17:45893514-45893514
GRCh38: 17:47816148-47816148
23 DNM1L NM_012062.5(DNM1L):c.305C>T (p.Thr102Met) SNV Uncertain significance 214308 rs201929226 GRCh37: 12:32861094-32861094
GRCh38: 12:32708160-32708160
24 DNM1L NM_012062.5(DNM1L):c.505C>T (p.Leu169Phe) SNV Uncertain significance 1031737 GRCh37: 12:32866191-32866191
GRCh38: 12:32713257-32713257
25 DNM1L , YARS2 NM_012062.5(DNM1L):c.1822A>C (p.Lys608Gln) SNV Uncertain significance 802835 rs1592688400 GRCh37: 12:32893112-32893112
GRCh38: 12:32740178-32740178
26 DNM1L , YARS2 NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe) SNV Likely benign 214305 rs138133550 GRCh37: 12:32893124-32893124
GRCh38: 12:32740190-32740190
27 DNM1L , YARS2 NM_012062.5(DNM1L):c.1571T>C (p.Leu524Ser) SNV Likely benign 802834 rs1031075173 GRCh37: 12:32890070-32890070
GRCh38: 12:32737136-32737136

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1:

72
# Symbol AA change Variation ID SNP ID
1 DNM1L p.Ala395Asp VAR_063704 rs121908531
2 DNM1L p.Gly362Ser VAR_076317 rs886037861
3 DNM1L p.Arg403Cys VAR_076318 rs863223953
4 DNM1L p.Ser36Gly VAR_080870 rs879255688
5 DNM1L p.Leu406Ser VAR_080872

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 1.

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

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

Cellular components related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 YARS2 POLG MIEF2 MIEF1 MFF FIS1
2 protein-containing complex GO:0032991 9.65 POLG PEX3 MFF FIS1 DNM1L
3 integral component of mitochondrial outer membrane GO:0031307 9.37 MFF FIS1
4 mitochondrial outer membrane GO:0005741 9.35 MIEF2 MIEF1 MFF FIS1 DNM1L
5 integral component of peroxisomal membrane GO:0005779 9.32 PEX3 FIS1
6 peroxisome GO:0005777 9.1 PEX3 MIEF2 MIEF1 MFF FIS1 DNM1L

Biological processes related to Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 release of cytochrome c from mitochondria GO:0001836 9.63 MFF FIS1 DNM1L
2 positive regulation of protein targeting to membrane GO:0090314 9.62 MIEF2 MIEF1 MFF FIS1
3 mitochondrion morphogenesis GO:0070584 9.61 MFF FIS1 DNM1L
4 peroxisome fission GO:0016559 9.58 MFF FIS1 DNM1L
5 regulation of mitochondrion organization GO:0010821 9.56 MIEF2 MFF FIS1 DNM1L
6 protein targeting to mitochondrion GO:0006626 9.54 MFF FIS1
7 mitochondrial fragmentation involved in apoptotic process GO:0043653 9.54 MFF FIS1 DNM1L
8 positive regulation of release of cytochrome c from mitochondria GO:0090200 9.52 MFF DNM1L
9 neuromuscular process controlling posture GO:0050884 9.51 SCN1A MECP2
10 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.49 MIEF2 DNM1L
11 regulation of peroxisome organization GO:1900063 9.48 MFF DNM1L
12 mitochondrial fission GO:0000266 9.46 MIEF1 MFF FIS1 DNM1L
13 mitochondrial fusion GO:0008053 9.26 MIEF2 MIEF1 MFF FIS1
14 positive regulation of mitochondrial fission GO:0090141 9.02 MIEF2 MIEF1 MFF FIS1 DNM1L

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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