Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandMitochondrial Diseases (D028361)
..Starting node
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandFinnish lethal neonatal metabolic syndrome (C537934)
..expandFriedreich Ataxia (D005621) Child6
..expandHypermetabolism due to Defect in Mitochondria (C565498)
..expandHypomyelination, Global Cerebral (C567847)
..expandHypotonia-Cystinuria Syndrome (C564710)
..expandKearns-Sayre Syndrome (D007625) Child1
..expandLeigh Disease (D007888) Child12
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)
..expandMitochondrial Complex II Deficiency (C565375)
..expandMitochondrial Complex III Deficiency (C565128)
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33
..expandMitochondrial Phosphate Carrier Deficiency (C563665)
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
..expandMyopathy with Giant Abnormal Mitochondria (C564971)
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Autosomal Dominant (D029241)
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)
..expandWolfram Syndrome 2 (C565733)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7465
Name:MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Definition:
Alternative IDs:
ParentIDs:MESH:D028361
TreeNumbers:C18.452.660/605711
Synonyms:MMDS |MMDS1
Slim Mappings:Metabolic disease
Reference: MedGen: 605711
MeSH: 605711
OMIM: 605711;

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
6 HP:0003128Lactic acidosis
7 HP:0001254Lethargy
8 HP:0001324Muscle weakness
9 HP:0002092Pulmonary arterial hypertension
10 HP:0002878Respiratory failure
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001002755.2(NFU1):c.622G>T (p.Gly208Cys)27247NFU1Pathogenic374514431RCV000023678; NGene:80767,MedGen:C1854052,OMIM:60571126962759469627594NM_001002755.2:c.622G>TNP_001002755.1:p.Gly208CysNC_000002.11:g.69627594C>AOMIM Allelic Variant:608100.0002C1854052 605711 Multiple mitochondrial dysfunctions syndrome 1