MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
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Mitochondrial Diseases (D028361)
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Mitochondrial Phosphate Carrier Deficiency (C563665)

       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:7332
Name:Mitochondrial Phosphate Carrier Deficiency
Definition:
Alternative IDs:OMIM:610773
ParentIDs:MESH:D028361
TreeNumbers:C18.452.660/C563665
Synonyms:MPCD
Slim Mappings:Metabolic disease
Reference: MedGen: C563665
MeSH: C563665
OMIM: 610773;
MSeqDR LSDB: 00040;  
Genes: SLC25A3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0012087Abnormal mitochondrial shape
3 HP:0000961Cyanosis
4 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
5 HP:0003128Lactic acidosis
6 HP:0001942Metabolic acidosis
7 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
8 HP:0002093Respiratory insufficiency
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005888.3(SLC25A3):c.-120G>C5250SLC25A3Uncertain significance774325459RCV000351689; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129898740398987403-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.-92G>A5250SLC25A3Uncertain significance115763433RCV000402654; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129898743198987431-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.-78G>A5250SLC25A3Likely benign28372744RCV000311921; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129898744598987445-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.-74C>T5250SLC25A3Uncertain significance532766014RCV000348131; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129898744998987449-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.-61G>T5250SLC25A3Uncertain significance886049918RCV000401892; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129898746298987462-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.-38C>T5250SLC25A3Uncertain significance542602103RCV000308017; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129898748598987485-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.-4-7C>T5250SLC25A3Uncertain significance766677386RCV000362822; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129898774698987746-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.4T>C (p.Phe2Leu)5250SLC25A3Uncertain significance886049919RCV000394919; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129898776098987760-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.215G>A (p.Gly72Glu)5250SLC25A3Pathogenic104894375RCV000009720; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129898926898989268OMIM Allelic Variant:600370.0001,UniProtKB (protein):Q00325#VAR_032850C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.439T>C (p.Leu147=)5250SLC25A3Benign/Likely benign11544648RCV000304652; RCV000676973; RCV000128093; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130; MedGen:CN517202; MedGen:CN169374129899179098991790-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.474T>C (p.Tyr158=)5250SLC25A3Conflicting interpretations of pathogenicity531425336RCV000359427; RCV000436047; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130; MedGen:CN169374129899231198992311-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.718C>T (p.Arg240Cys)5250SLC25A3Uncertain significance772819565RCV000264879; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129899380698993806-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.817+4C>T5250SLC25A3Uncertain significance886049920RCV000319946; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129899390998993909-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.817+5G>T5250SLC25A3Uncertain significance200029342RCV000355453; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129899391098993910-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.861G>T (p.Val287=)5250SLC25A3Uncertain significance750516275RCV000388989; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129899499298994992-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.*94T>C5250SLC25A3Uncertain significance886049921RCV000294509; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129899540098995400-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.*102C>A5250SLC25A3Uncertain significance74604883RCV000330760; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129899540898995408-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.*211T>A5250SLC25A3Likely benign76488843RCV000385404; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129899551798995517-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.*221T>G5250SLC25A3Likely benign115173420RCV000291061; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129899552798995527-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.*255T>G5250SLC25A3Uncertain significance540509043RCV000346323; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129899556198995561-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.*360delC5250SLC25A3Uncertain significance886049922RCV000404158; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129899566698995666-C1835845 610773 Mitochondrial phosphate carrier deficiency;
NM_005888.3(SLC25A3):c.*411T>C5250SLC25A3Uncertain significance757599299RCV000287770; NMedGen:C1835845,OMIM:610773, Orphanet:ORPHA91130129899571798995717-C1835845 610773 Mitochondrial phosphate carrier deficiency;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000075415 MSeqDR Search EnsemblSLC25A31122solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 [Source:HGNC Symbol;Acc:10989]00040

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