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:
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Mitochondrial Diseases (D028361)
..Starting node
..expand
Multiple Mitochondrial Dysfunctions Syndrome (C565304)

       Child Nodes:
........expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)  LSDB  L: 00044;



 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:8262
Name:Multiple Mitochondrial Dysfunctions Syndrome
Definition:
Alternative IDs:OMIM:605711|OMIM:615330|OMIM:616370
ParentIDs:MESH:D028361
TreeNumbers:C18.452.660/C565304
Synonyms:MMDS |MMDS1 |MMDS3 |MMDS4 |MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 |MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 |MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
Slim Mappings:Metabolic disease
Reference: MedGen: C565304
MeSH: C565304
OMIM: 605711;
MSeqDR LSDB: 00013; 00043; 00530;  
Genes: IBA57; NFU1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0008972Decreased activity of mitochondrial respiratory chain
3 HP:0001508Failure to thrive
4 HP:0011968Feeding difficulties
5 HP:0001263Global developmental delay
NAMDC:  Mental retardation
6 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
7 HP:0003128Lactic acidosis
8 HP:0001254Lethargy
9 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
10 HP:0002092Pulmonary arterial hypertension
11 HP:0002878Respiratory failure
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001002755.4(NFU1):c.*103G>A27247NFU1Uncertain significancers774104725RCV000297843; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926962327569623275CT2:g.69623275C>TClinGen:CA1694042
NC_000002.11:g.(?_69627476)_(69627690_?)dup27247NFU1Likely pathogenic-1RCV000802581; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926962747669627690nana-
NM_001002755.4(NFU1):c.702G>A (p.Glu234=)27247NFU1Uncertain significancers561482249RCV000357371; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926962751469627514CT2:g.69627514C>TClinGen:CA1694097
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp)27247NFU1Conflicting interpretations of pathogenicityrs377381866RCV000479200|RCV001217924; NMedGen:CN517202|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926962754069627540TC2:g.69627540T>CClinGen:CA1694103CN517202 not provided;
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)27247NFU1Uncertain significancers201634470RCV000262464; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926962758769627587CA2:g.69627587C>AClinGen:CA1694108
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)27247NFU1Pathogenicrs374514431RCV000023678|RCV000385109; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869|MedGen:CN51720226962759469627594CA2:g.69627594C>AClinGen:CA129406,UniProtKB:Q9UMS0#VAR_066639,OMIM:608100.0002C3276432 605711 Multiple mitochondrial dysfunctions syndrome 1;
NM_001002755.3(NFU1):c.545+9T>C27247NFU1Likely benignrs767405381RCV000649048|RCV000827394; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869|MedGen:CN51720226963314569633145AG2:g.69633145A>GClinGen:CA1694139
NM_015700.4(NFU1):c.473+5G>A27247NFU1Pathogenicrs756085990RCV000578252; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926963314969633149CT2:g.69633149C>TClinGen:CA1694141C3276432 605711 Multiple mitochondrial dysfunctions syndrome 1;
NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp)27247NFU1Pathogenicrs1354126704RCV000578338; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926963315569633155GA2:g.69633155G>AClinGen:CA347123810C3276432 605711 Multiple mitochondrial dysfunctions syndrome 1;
NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp)27247NFU1Uncertain significancers886056266RCV000303644; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926963320469633204TA2:g.69633204T>AClinGen:CA10615791
NM_001002755.4(NFU1):c.485-1G>C27247NFU1Likely pathogenicrs1464338870RCV000991363; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926963321569633215CG2:g.69633215C>G-
NM_001002755.4(NFU1):c.411T>C (p.Ile137=)27247NFU1Benignrs12474866RCV000127197|RCV000543612; NMedGen:CN169374|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926964239069642390AG2:g.69642390A>GClinGen:CA292531C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile)27247NFU1Uncertain significance-1RCV001139263; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926964670769646707CA2:g.69646707C>A-
NM_001002755.3(NFU1):c.299C>G (p.Ala100Gly)27247NFU1Uncertain significancers139171264RCV000323454; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926965071769650717GC2:g.69650717G>CClinGen:CA1694242
NM_001002755.3(NFU1):c.286C>T (p.Arg96Cys)27247NFU1Benignrs74637005RCV000127196|RCV000364040|RCV000676266; NMedGen:CN169374|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869|MedGen:CN51720226965073069650730GA2:g.69650730G>AClinGen:CA292529C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.3(NFU1):c.167-13T>G27247NFU1Uncertain significancers181762580RCV000269254; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926965086269650862AC2:g.69650862A>CClinGen:CA1694266
NM_001002755.3(NFU1):c.166+8T>A27247NFU1Conflicting interpretations of pathogenicityrs199927640RCV000907036; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926965902669659026AT2:g.69659026A>TClinGen:CA1694289
NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser)27247NFU1Benignrs76646410RCV000196268|RCV000649049; NMedGen:CN169374|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926965904969659049CA2:g.69659049C>AClinGen:CA320689
NM_001002755.4(NFU1):c.145C>A (p.Pro49Thr)27247NFU1Uncertain significance-1RCV001216752; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926965905569659055GT2:g.69659055G>T-
NM_001002755.4(NFU1):c.84T>A (p.Asn28Lys)27247NFU1Uncertain significance-1RCV001141884; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926965911669659116AT2:g.69659116A>T-
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys)27247NFU1Benignrs4453725RCV000127198|RCV000294034|RCV000676267; NMedGen:CN169374|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869|MedGen:CN51720226965912669659126AT2:g.69659126A>TClinGen:CA292533,UniProtKB:Q9UMS0#VAR_044429C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.3(NFU1):c.62+10G>A27247NFU1Conflicting interpretations of pathogenicityrs773351968RCV000915915; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966448369664483CT2:g.69664483C>TClinGen:CA1694319
NM_001002755.3(NFU1):c.62+9C>T27247NFU1Benignrs114846829RCV000127200|RCV000676268|RCV001085565; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966448469664484GA2:g.69664484G>AClinGen:CA292536C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.12G>A (p.Thr4=)27247NFU1Uncertain significance-1RCV001141885; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966454369664543CT2:g.69664543C>T-
NM_001002755.4(NFU1):c.-1G>A27247NFU1Uncertain significancers886056267RCV000279512; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966455569664555CT2:g.69664555C>TClinGen:CA10614314
NM_001002755.4(NFU1):c.-6A>G27247NFU1Benignrs116604978RCV000127199|RCV000676269|RCV001143677; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966456069664560TC2:g.69664560T>CClinGen:CA292535CN517202 not provided;
NM_001002755.4(NFU1):c.-7G>A27247NFU1Uncertain significance-1RCV001143678; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966456169664561CT2:g.69664561C>T-
NM_001002756.2(NFU1):c.-418C>T27247NFU1Uncertain significance-1RCV001143679; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966459569664595GA2:g.69664595G>A-
NM_001002756.2(NFU1):c.-425G>A27247NFU1Uncertain significancers886056268RCV000334612; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966460269664602CT2:g.69664602C>TClinGen:CA10613872
NM_001002756.2(NFU1):c.-443C>T27247NFU1Uncertain significancers753424678RCV000404073; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966462069664620GA2:g.69664620G>AClinGen:CA1694365
NM_001002756.2(NFU1):c.-496G>A27247NFU1Uncertain significancers372505661RCV000280831; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966467369664673CT2:g.69664673C>TClinGen:CA1694377
NM_001002756.2(NFU1):c.-511A>G27247NFU1Uncertain significance-1RCV001143680; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966468869664688TC2:g.69664688T>C-
NM_001002756.2(NFU1):c.-543T>C27247NFU1Benignrs73934936RCV000390550; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966472069664720AG2:g.69664720A>GClinGen:CA1694385C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002756.2(NFU1):c.-552G>T27247NFU1Uncertain significancers764708513RCV000305063; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966472969664729CA2:g.69664729C>AClinGen:CA1694386
NM_001002756.2(NFU1):c.-556C>G27247NFU1Uncertain significance-1RCV001137128; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966473369664733GC2:g.69664733G>C-
NM_001002756.2(NFU1):c.-574T>G27247NFU1Uncertain significancers886056269RCV000359842; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966475169664751AC2:g.69664751A>CClinGen:CA10615825
NM_001002756.2(NFU1):c.-577G>A27247NFU1Uncertain significancers531177766RCV000394683; NMONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:40186926966475469664754CT2:g.69664754C>TClinGen:CA1694389
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000169599 MSeqDR Search EnsemblNFU11137NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:16287]00043

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