EMPF1
MCID: ENC057
MIFTS: 29

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 75 29 6
Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 75 13
Empf1 57 75
Empf 57 75
Encephalopathy, Lethal, Due to Defective Mitochondrial and Peroxisomal Fission 73
Encephalopathy, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1 57
Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1 75
Lethal Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 59

Characteristics:

Orphanet epidemiological data:

59
lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
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 : 75 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 failure to thrive and global developmental delay

OMIM : 57 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

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 11.1
2 pulmonary fibrosis 10.1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 global developmental delay 32 HP:0001263
3 microcephaly 32 HP:0000252
4 optic atrophy 32 HP:0000648
5 feeding difficulties 32 HP:0011968
6 strabismus 32 HP:0000486
7 lactic acidosis 32 HP:0003128
8 deeply set eye 32 HP:0000490
9 status epilepticus 32 occasional (7.5%) HP:0002133
10 areflexia 32 HP:0001284
11 pointed chin 32 HP:0000307
12 horizontal nystagmus 32 HP:0000666
13 decreased fetal movement 32 HP:0001558
14 generalized hypotonia 32 HP:0001290
15 encephalopathy 32 HP:0001298
16 oculomotor apraxia 32 HP:0000657
17 cerebral atrophy 32 HP:0002059
18 epileptic encephalopathy 32 occasional (7.5%) HP:0200134
19 abnormal pyramidal sign 32 HP:0007256

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

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

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

41
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:

75
# 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
5 DNM1L p.Leu406Ser VAR_080872

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

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM1L NM_012062.4(DNM1L): c.1184C> A (p.Ala395Asp) single nucleotide variant Pathogenic rs121908531 GRCh37 Chromosome 12, 32884052: 32884052
2 DNM1L NM_012062.4(DNM1L): c.1184C> A (p.Ala395Asp) single nucleotide variant Pathogenic rs121908531 GRCh38 Chromosome 12, 32731118: 32731118
3 DNM1L NM_012062.4(DNM1L): c.1207C> T (p.Arg403Cys) single nucleotide variant Pathogenic rs863223953 GRCh38 Chromosome 12, 32731362: 32731362
4 DNM1L NM_012062.4(DNM1L): c.1207C> T (p.Arg403Cys) single nucleotide variant Pathogenic rs863223953 GRCh37 Chromosome 12, 32884296: 32884296
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_001278464.1(DNM1L): c.261dupA (p.Trp88Metfs) duplication Pathogenic rs879255686 GRCh37 Chromosome 12, 32858769: 32858769
12 DNM1L NM_001278464.1(DNM1L): c.261dupA (p.Trp88Metfs) 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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....