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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Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node:
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Mitochondrial Diseases (D028361)
..Starting node
..expand
Sarcosinemia (C537236)

       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:9993
Name:Sarcosinemia
Definition:
Alternative IDs:OMIM:268900
ParentIDs:MESH:D000592|MESH:D028361
TreeNumbers:C16.320.565.100/C537236 |C18.452.648.100/C537236 |C18.452.660/C537236
Synonyms:Hypersarcosinemia |SARCOS |Sarcosin dehydrogenase complex, deficiency of |SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY |Sarcosine Dehydrogenase Complex, Deficiency Of |SARD Deficiency |SARDHD |SARDH Deficiency
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C537236
MeSH: C537236
OMIM: 268900;
MSeqDR LSDB:  
Genes: SARDH;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0010896Hypersarcosinemia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg)1294COL7A1Pathogenic121912832RCV000018976; NMedGen:C0268371,OMIM:132000,SNOMED CT:268900134861294548612945NM_000094.3:c.6007G>ANP_000085.1:p.Gly2003ArgNC_000003.11:g.48612945C>TOMIM Allelic Variant:120120.0008C0268371 132000 Dominant dystrophic epidermolysis bullosa with absence of skin; C0268563 268900 Sarcosine dehydrogenase deficiency
NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg)1294COL7A1not provided121912841RCV000144373; NMedGen:C0268371,OMIM:132000,SNOMED CT:268900134861593048615930NM_000094.3:c.5443G>ANP_000085.1:p.Gly1815ArgNC_000003.11:g.48615930C>TCOL7A1 database:COL7A1_00229C0268371 132000 Dominant dystrophic epidermolysis bullosa with absence of skin; C0268563 268900 Sarcosine dehydrogenase deficiency
NM_007101.3(SARDH):c.2167C>T (p.Arg723Ter)1757SARDHAffects149391396RCV000032645; NMedGen:C0268563,OMIM:268900,ORPHA:3129,SNOMED CT:648520029136536816136536816NM_007101.3:c.2167C>TNP_009032.2:p.Arg723TerNC_000009.11:g.136536816G>AOMIM Allelic Variant:604455.0003C0268563 268900 Sarcosine dehydrogenase deficiency
NM_007101.3(SARDH):c.1540C>T (p.Arg514Ter)1757SARDHAffects140559739RCV000032646; NMedGen:C0268563,OMIM:268900,ORPHA:3129,SNOMED CT:648520029136570084136570084NM_007101.3:c.1540C>TNP_009032.2:p.Arg514TerNC_000009.11:g.136570084G>AOMIM Allelic Variant:604455.0004C0268563 268900 Sarcosine dehydrogenase deficiency
NM_007101.3(SARDH):c.860C>T (p.Pro287Leu)1757SARDHAffects149481147RCV000032644; NMedGen:C0268563,OMIM:268900,ORPHA:3129,SNOMED CT:648520029136594942136594942NM_007101.3:c.860C>TNP_009032.2:p.Pro287LeuNC_000009.11:g.136594942G>AOMIM Allelic Variant:604455.0002C0268563 268900 Sarcosine dehydrogenase deficiency
NM_007101.3(SARDH):c.211G>T (p.Val71Phe)1757SARDHAffects397514504RCV000032643; NMedGen:C0268563,OMIM:268900,ORPHA:3129,SNOMED CT:648520029136599085136599085NM_007101.3:c.211G>TNP_009032.2:p.Val71PheNC_000009.11:g.136599085C>AOMIM Allelic Variant:604455.0001C0268563 268900 Sarcosine dehydrogenase deficiency
MSeqDR Portal