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

       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)  LSDB  L: 00090;
..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)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..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;
..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: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..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 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..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)  LSDB  L: 00412;
..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:7464
Name:Multiple Mitochondrial Dysfunctions Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D028361
TreeNumbers:C18.452.660/C565304
Synonyms:
Slim Mappings:Metabolic disease
Reference: MedGen: C565304
MeSH: C565304
OMIM: 605711;
MSeqDR LSDB: 00043;  
Genes: 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:  Delayed development (evidence of at least one of A through F)
6 HP:0001263Global developmental delay
NAMDC:  Mental retardation
7 HP:0003128Lactic acidosis
8 HP:0001254Lethargy
9 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
10 HP:0002092Pulmonary hypertension
11 HP:0002878Respiratory failure
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001002755.2(NFU1):c.629G>T (p.Cys210Phe)27247NFU1Uncertain significance201634470RCV000262464; NMedGen:C3276432,OMIM:60571126962758769627587-C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.2(NFU1):c.622G>T (p.Gly208Cys)27247NFU1Pathogenic374514431RCV000023678; RCV000385109; NMedGen:C3276432,OMIM:605711; MedGen:CN51720226962759469627594OMIM Allelic Variant:608100.0002,UniProtKB (protein):Q9UMS0#VAR_066639C3276432 605711 Multiple mitochondrial dysfunctions syndrome 1;
NM_001002755.2(NFU1):c.545+9T>C27247NFU1Likely benign767405381RCV000649048; NMedGen:C3276432,OMIM:60571126963314569633145-C3276432 605711 Multiple mitochondrial dysfunctions syndrome 1;
NM_001002755.2(NFU1):c.545+5G>A27247NFU1Pathogenic756085990RCV000578252; NMedGen:C3276432,OMIM:60571126963314969633149-C3276432 605711 Multiple mitochondrial dysfunctions syndrome 1;
NM_001002755.2(NFU1):c.544C>T (p.Arg182Trp)27247NFU1Pathogenic1354126704RCV000578338; NMedGen:C3276432,OMIM:60571126963315569633155-C3276432 605711 Multiple mitochondrial dysfunctions syndrome 1;
NM_001002755.2(NFU1):c.411T>C (p.Ile137=)27247NFU1Benign/Likely benign12474866RCV000358336; RCV000543612; RCV000127197; NMedGen:C3502075; MedGen:C3276432,OMIM:605711; MedGen:CN16937426964239069642390-C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.2(NFU1):c.151G>T (p.Ala51Ser)27247NFU1Benign/Likely benign76646410RCV000383649; RCV000649049; RCV000196268; NMedGen:C3502075; MedGen:C3276432,OMIM:605711; MedGen:CN16937426965904969659049-C3502075 Multiple mitochondrial dysfunctions syndrome;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000169599 MSeqDR Search EnsemblNFU1117NFU1 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