MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Brain Diseases, Metabolic, Inborn (D020739)
Parent Node:
expand
Mitochondrial Diseases (D028361)
..Starting node
..expand
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)  LSDB  L: 00014;
..expandENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)  LSDB  L: 00525;
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandLIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00018; 00019; 00020; 00021; 00022; 00507; 00508; 00528;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)  LSDB  L: 00024;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)  LSDB  L: 00025;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)  LSDB  L: 00010;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)  LSDB  L: 00041;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00013; 00043; 00530;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1 L: 00035;
..expandNoninsulin-dependent diabetes mellitus with deafness (C536246)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)  LSDB  L: 00170;
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4123
Name:ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1
Definition:
Alternative IDs:
ParentIDs:MESH:D020739|MESH:D028361
TreeNumbers:C10.228.140.163.100/614388 |C16.320.565.189/614388 |C18.452.132.100/614388 |C18.452.648.189/614388 |C18.452.660/614388
Synonyms:EMPF |EMPF1
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: 614388
MeSH: 614388
OMIM: 614388;
MSeqDR LSDB: 00014;  
Genes: DNM1L;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0007256Abnormal pyramidal signs
4 HP:0001284Areflexia
5 HP:0002059Cerebral atrophy
6 HP:0001522Death in infancy
7 HP:0001558Decreased fetal movement
8 HP:0000490Deeply set eye
9 HP:0001298Encephalopathy
NAMDC:  Encephalopathy (At least one neurological manifestation marked with an *)
10 HP:0200134Epileptic encephalopathyHP:0040283
11 HP:0001508Failure to thrive
12 HP:0011968Feeding difficulties
13 HP:0001290Generalized hypotonia
14 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
15 HP:0001263Global developmental delay
NAMDC:  Mental retardation
16 HP:0000666Horizontal nystagmus
17 HP:0003128Lactic acidosis
18 HP:0000252Microcephaly
19 HP:0000657Oculomotor apraxia
20 HP:0000648Optic atrophy
21 HP:0000307Pointed chin
22 HP:0003676Progressive
23 HP:0002133Status epilepticusHP:0040283
24 HP:0000486Strabismus
25 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_018131.5(CEP55):c.910A>T (p.Ile304Leu)55165CEP55Uncertain significancers765188763RCV000770959; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050109527692295276922AT10:g.95276922A>T-
NM_012062.5(DNM1L):c.106A>G (p.Ser36Gly)10059DNM1LPathogenicrs879255688RCV000239716|RCV000384736; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050|MedGen:CN517202123285435232854352AG12:g.32854352A>GClinGen:CA10586278,OMIM:603850.0007C3280660 614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1;
NM_012062.5(DNM1L):c.115A>G (p.Ser39Gly)10059DNM1LPathogenic-1RCV001251095; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123285436132854361AG12:g.32854361A>G-
NM_012062.5(DNM1L):c.251-1532dup10059DNM1LPathogenicrs879255686RCV000239719; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123285876832858769CCA12:g.32858768_32858769insAClinGen:CA10586277,OMIM:603850.0004C3280660 614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1;
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met)10059DNM1LUncertain significancers201929226RCV000196424|RCV000763842; NMedGen:CN517202|MONDO:MONDO:0012543,MedGen:C1853139,OMIM:610708, Orphanet:98673; MONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123286109432861094CT12:g.32861094C>TClinGen:CA320842CN169374 not specified;
NM_012062.5(DNM1L):c.344C>G (p.Thr115Arg)10059DNM1LConflicting interpretations of pathogenicity-1RCV001198068|RCV001266847; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050|MeSH:D030342,MedGen:C0950123123286113332861133CG12:g.32861133C>G-
NM_012062.5(DNM1L):c.346_347del (p.Glu116fs)10059DNM1LPathogenicrs879255687RCV000239652; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123286113432861135CAGC12:g.32861134_32861135delClinGen:CA6507318,OMIM:603850.0005
NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)10059DNM1LPathogenicrs1592631789RCV000850504; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050; MONDO:MONDO:0012543,MedGen:C1853139,OMIM:610708, Orphanet:98673123287361932873620CCAA12:g.32873619_32873620insAA-
NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg)10059DNM1LUncertain significancers879255689RCV000239649; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123287553632875536GA12:g.32875536G>AClinGen:CA10586279,OMIM:603850.0008C3280660 614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1;
NM_012062.5(DNM1L):c.1084G>A (p.Gly362Ser)10059DNM1LPathogenicrs886037861RCV000239681; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123288395232883952GA12:g.32883952G>AClinGen:CA10586276,UniProtKB:O00429#VAR_076317,OMIM:603850.0003C3280660 614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1;
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp)10059DNM1LLikely pathogenicrs879255685RCV000239637; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123288395332883953GA12:g.32883953G>AClinGen:CA10586275,UniProtKB:O00429#VAR_076316,OMIM:603850.0002C3280660 614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1;
NM_012062.5(DNM1L):c.1087G>A (p.Gly363Ser)10059DNM1LLikely pathogenic-1RCV001253719; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123288395532883955GA12:g.32883955G>A-
NM_012062.5(DNM1L):c.1108T>C (p.Phe370Leu)10059DNM1LLikely pathogenicrs1592661973RCV000988806; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123288397632883976TC12:g.32883976T>C-
NM_012062.5(DNM1L):c.1135G>A (p.Glu379Lys)10059DNM1LLikely pathogenicrs1057518694RCV000414839; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123288400332884003GA12:g.32884003G>AClinGen:CA16043679C3280660 614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1;
NM_012062.5(DNM1L):c.1184C>A (p.Ala395Asp)10059DNM1LPathogenicrs121908531RCV000006386; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123288405232884052CA12:g.32884052C>AClinGen:CA117911,UniProtKB:O00429#VAR_063704,OMIM:603850.0001C3280660 614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1;
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)10059DNM1LPathogenicrs863223953RCV000200196|RCV000239677|RCV000622584|RCV000850522; NMedGen:CN517202|MONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012543,MedGen:C1853139,OMIM:610708, Orphanet:98673; MONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123288429632884296CT12:g.32884296C>TClinGen:CA324758,UniProtKB:O00429#VAR_076318,OMIM:603850.0006
NM_012062.5(DNM1L):c.1228G>A (p.Glu410Lys)10059DNM1LLikely pathogenic-1RCV001265935|RCV001271120; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123288431732884317GA12:g.32884317G>AOMIM:603850.0011
NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe)10059DNM1LLikely pathogenicrs879253874RCV000237095; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123288442632884426GT12:g.32884426G>TClinGen:CA10584093C3280660 614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1;
NM_012062.5(DNM1L):c.1571T>C (p.Leu524Ser)10059DNM1LLikely benignrs1031075173RCV000988807; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123289007032890070TC12:g.32890070T>C-
NM_012062.5(DNM1L):c.1822A>C (p.Lys608Gln)10059DNM1LUncertain significancers1592688400RCV000988808; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123289311232893112AC12:g.32893112A>C-
NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe)10059DNM1LLikely benignrs138133550RCV000195517|RCV000988809; NMedGen:CN169374|MONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123289312432893124AT12:g.32893124A>TClinGen:CA319868CN239368 Lethal Encephalopathy;
NM_012062.5(DNM1L):c.1915C>T (p.Arg639Trp)10059DNM1LLikely pathogenicrs1011225865RCV000988810; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123289337332893373CT12:g.32893373C>T-
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys)10059DNM1LPathogenic/Likely pathogenicrs1565548029RCV000757997|RCV000850546; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050|MONDO:MONDO:0012543,MedGen:C1853139,OMIM:610708, Orphanet:98673; MONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050123289560032895600AG12:g.32895600A>G-
NM_145798.3(OSBPL7):c.1078G>A (p.Asp360Asn)114881OSBPL7Uncertain significancers1016471339RCV000770960; NMONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388, Orphanet:330050174589351445893514CT17:g.45893514C>T-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000087470 MSeqDR Search EnsemblDNM1L1122dynamin 1-like [Source:HGNC Symbol;Acc:2973]00014

*Click on gene and variants to check details. Or view all variants in new page