EMPF1
MCID: ENC057
MIFTS: 28

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 58 76 30 6
Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 76 13
Empf1 58 76
Empf 58 76
Dnm1l-Related Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 60
Encephalopathy, Lethal, Due to Defective Mitochondrial and Peroxisomal Fission 74
Encephalopathy, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1 58
Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1 76

Characteristics:

Orphanet epidemiological data:

60
dnm1l-related encephalopathy due to mitochondrial and peroxisomal fission defect
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
encephalopathy due to defective mitochondrial and peroxisomal fission 1:
Mortality/Aging death in infancy
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, is related to encephalopathy due to defective mitochondrial and peroxisomal fission 2 and pulmonary fibrosis, and has symptoms including 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 eye and skeletal muscle, and related phenotypes are status epilepticus and epileptic encephalopathy

OMIM : 58 Encephalopathy due to defective mitochondrial and peroxisomal fission-1 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)

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:

# Related Disease Score Top Affiliating Genes
1 encephalopathy due to defective mitochondrial and peroxisomal fission 2 11.2
2 pulmonary fibrosis 10.2

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

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

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 status epilepticus 33 occasional (7.5%) HP:0002133
2 epileptic encephalopathy 33 occasional (7.5%) HP:0200134
3 failure to thrive 33 HP:0001508
4 global developmental delay 33 HP:0001263
5 microcephaly 33 HP:0000252
6 optic atrophy 33 HP:0000648
7 feeding difficulties 33 HP:0011968
8 strabismus 33 HP:0000486
9 lactic acidosis 33 HP:0003128
10 deeply set eye 33 HP:0000490
11 areflexia 33 HP:0001284
12 pointed chin 33 HP:0000307
13 horizontal nystagmus 33 HP:0000666
14 decreased fetal movement 33 HP:0001558
15 generalized hypotonia 33 HP:0001290
16 encephalopathy 33 HP:0001298
17 oculomotor apraxia 33 HP:0000657
18 cerebral atrophy 33 HP:0002059
19 abnormal pyramidal sign 33 HP:0007256

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
oculomotor apraxia
poor visual fixation
deep-set eyes (patient a)
more
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)

Growth Other:
failure to thrive
poor feeding

Neurologic Peripheral Nervous System:
areflexia

Neurologic Central Nervous System:
cerebral atrophy
hypotonia
pyramidal signs
delayed psychomotor development
dysmyelination
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

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 30 DNM1L

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

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

42
Eye, Skeletal Muscle

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

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

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

76
# 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

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

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM1L NM_012062.4(DNM1L): c.1207C> T (p.Arg403Cys) single nucleotide variant Pathogenic rs863223953 GRCh38 Chromosome 12, 32731362: 32731362
2 DNM1L NM_012062.4(DNM1L): c.1207C> T (p.Arg403Cys) single nucleotide variant Pathogenic rs863223953 GRCh37 Chromosome 12, 32884296: 32884296
3 DNM1L NM_012062.4(DNM1L): c.1184C> A (p.Ala395Asp) single nucleotide variant Pathogenic rs121908531 GRCh37 Chromosome 12, 32884052: 32884052
4 DNM1L NM_012062.4(DNM1L): c.1184C> A (p.Ala395Asp) single nucleotide variant Pathogenic rs121908531 GRCh38 Chromosome 12, 32731118: 32731118
5 DNM1L NM_005690.4(DNM1L): c.1337G> T (p.Cys446Phe) single nucleotide variant Likely pathogenic rs879253874 GRCh37 Chromosome 12, 32884426: 32884426
6 DNM1L NM_005690.4(DNM1L): c.1337G> T (p.Cys446Phe) single nucleotide variant Likely pathogenic rs879253874 GRCh38 Chromosome 12, 32731492: 32731492
7 DNM1L NM_012062.4(DNM1L): c.1085G> A (p.Gly362Asp) single nucleotide variant Pathogenic rs879255685 GRCh37 Chromosome 12, 32883953: 32883953
8 DNM1L NM_012062.4(DNM1L): c.1085G> A (p.Gly362Asp) single nucleotide variant Pathogenic rs879255685 GRCh38 Chromosome 12, 32731019: 32731019
9 DNM1L NM_012062.4(DNM1L): c.1084G> A (p.Gly362Ser) single nucleotide variant Pathogenic rs886037861 GRCh37 Chromosome 12, 32883952: 32883952
10 DNM1L NM_012062.4(DNM1L): c.1084G> A (p.Gly362Ser) single nucleotide variant Pathogenic rs886037861 GRCh38 Chromosome 12, 32731018: 32731018
11 DNM1L NM_012062.4(DNM1L): c.251-1532dup duplication Pathogenic rs879255686 GRCh37 Chromosome 12, 32858769: 32858769
12 DNM1L NM_012062.4(DNM1L): c.251-1532dup duplication Pathogenic rs879255686 GRCh38 Chromosome 12, 32705835: 32705835
13 DNM1L NM_012062.4(DNM1L): c.346_347delGA (p.Glu116Lysfs) deletion Pathogenic rs879255687 GRCh38 Chromosome 12, 32708201: 32708202
14 DNM1L NM_012062.4(DNM1L): c.346_347delGA (p.Glu116Lysfs) deletion Pathogenic rs879255687 GRCh37 Chromosome 12, 32861135: 32861136
15 DNM1L NM_012062.4(DNM1L): c.106A> G (p.Ser36Gly) single nucleotide variant Pathogenic rs879255688 GRCh37 Chromosome 12, 32854352: 32854352
16 DNM1L NM_012062.4(DNM1L): c.106A> G (p.Ser36Gly) single nucleotide variant Pathogenic rs879255688 GRCh38 Chromosome 12, 32701418: 32701418
17 DNM1L NM_012062.4(DNM1L): c.1048G> A (p.Gly350Arg) single nucleotide variant Uncertain significance rs879255689 GRCh37 Chromosome 12, 32875536: 32875536
18 DNM1L NM_012062.4(DNM1L): c.1048G> A (p.Gly350Arg) single nucleotide variant Uncertain significance rs879255689 GRCh38 Chromosome 12, 32722602: 32722602
19 DNM1L NM_012063.3(DNM1L): c.1135G> A (p.Glu379Lys) single nucleotide variant Likely pathogenic rs1057518694 GRCh37 Chromosome 12, 32884003: 32884003
20 DNM1L NM_012063.3(DNM1L): c.1135G> A (p.Glu379Lys) single nucleotide variant Likely pathogenic rs1057518694 GRCh38 Chromosome 12, 32731069: 32731069
21 DNM1L NM_012062.4(DNM1L): c.2072A> G (p.Tyr691Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 32895600: 32895600
22 DNM1L NM_012062.4(DNM1L): c.2072A> G (p.Tyr691Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 32742666: 32742666

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 8.62 DNM1L YARS2

Molecular functions 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 protein homodimerization activity GO:0042803 8.96 DNM1L YARS2
2 nucleotide binding GO:0000166 8.62 DNM1L YARS2

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