MSeqDR Mitochondrial Disease Portal


 
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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
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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.7344G>A (p.Val2448=)1294COL7A1Pathogenic201728948RCV000763112; RCV000763112; RCV000763112; RCV000763112; RCV000763112; RCV000763112; RCV000763112; RCV000414113; NMedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MedGen:C1275114,OMIM:604129, Orphanet:ORPHA89843,SNOMED CT:403810008; MedGen:C0432322,OMIM:131750, Orphanet:ORPHA231568; MedGen:C1843761,OMIM:607523; Human Phenotype Ontology:HP:0012221,MedGen:C0432321,OMIM:1318534860807248608072-CN517202 not provided;
NM_000094.3(COL7A1):c.6082G>A (p.Gly2028Arg)1294COL7A1Pathogenic762162799RCV000763113; RCV000763113; RCV000763113; RCV000763113; RCV000763113; RCV000763113; RCV000763113; RCV000435332; NMedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MedGen:C1275114,OMIM:604129, Orphanet:ORPHA89843,SNOMED CT:403810008; MedGen:C0432322,OMIM:131750, Orphanet:ORPHA231568; MedGen:C1843761,OMIM:607523; Human Phenotype Ontology:HP:0012221,MedGen:C0432321,OMIM:1318534861287048612870-CN517202 not provided;
NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg)1294COL7A1Pathogenic121912832RCV000018976; RCV000622440; RCV000414493; NMedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MeSH:D030342,MedGen:C0950123; MedGen:CN51720234861294548612945OMIM Allelic Variant:120120.0008,UniProtKB (protein):Q02388#VAR_001815C0268371 132000 Dominant dystrophic epidermolysis bullosa with absence of skin;
NM_000094.3(COL7A1):c.5820G>A (p.Pro1940=)1294COL7A1Pathogenic/Likely pathogenic200972872RCV000763114; RCV000763114; RCV000763114; RCV000763114; RCV000763114; RCV000763114; RCV000763114; RCV000497540; NMedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MedGen:C1275114,OMIM:604129, Orphanet:ORPHA89843,SNOMED CT:403810008; MedGen:C0432322,OMIM:131750, Orphanet:ORPHA231568; MedGen:C1843761,OMIM:607523; Human Phenotype Ontology:HP:0012221,MedGen:C0432321,OMIM:1318534861368248613682-CN517202 not provided;
NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg)1294COL7A1Pathogenic121912841RCV000144373; RCV000256181; RCV000225690; NMedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MedGen:C1843761,OMIM:607523; MedGen:C0079474,OMIM:226600,SNOMED CT:4852800434861593048615930COL7A1 database:COL7A1_00229,OMIM Allelic Variant:120120.0025,UniProtKB (protein):Q02388#VAR_015520C0268371 132000 Dominant dystrophic epidermolysis bullosa with absence of skin;
NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter)1294COL7A1Pathogenic761234904RCV000763513; RCV000763513; RCV000763513; RCV000763513; RCV000763513; RCV000763513; RCV000763513; RCV000598770; NMedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MedGen:C1275114,OMIM:604129, Orphanet:ORPHA89843,SNOMED CT:403810008; MedGen:C0432322,OMIM:131750, Orphanet:ORPHA231568; MedGen:C1843761,OMIM:607523; Human Phenotype Ontology:HP:0012221,MedGen:C0432321,OMIM:1318534862218748622187-CN517202 not provided;
NM_000094.3(COL7A1):c.1907G>T (p.Gly636Val)1294COL7A1Uncertain significance116005007RCV000764512; RCV000764512; RCV000764512; RCV000764512; RCV000764512; RCV000764512; RCV000764512; RCV000594896; NMedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MedGen:C1275114,OMIM:604129, Orphanet:ORPHA89843,SNOMED CT:403810008; MedGen:C0432322,OMIM:131750, Orphanet:ORPHA231568; MedGen:C1843761,OMIM:607523; Human Phenotype Ontology:HP:0012221,MedGen:C0432321,OMIM:1318534862778948627789-CN169374 not specified;
NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter)1294COL7A1Pathogenic144023803RCV000763514; RCV000763514; RCV000763514; RCV000763514; RCV000763514; RCV000578166; RCV000763514; RCV000763514; RCV000413975; NMedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MedGen:C1275114,OMIM:604129, Orphanet:ORPHA89843,SNOMED CT:403810008; MedGen:C0432322,OMIM:131750, Orphanet:ORPHA231568; MedGen:C1843761,OMIM:607523; Human Phenotype Ontology:HP:0012221,MedGen:C0432321,OMIM:1318534862815448628154-CN517202 not provided;
NM_000094.3(COL7A1):c.1637-1G>A1294COL7A1Pathogenic/Likely pathogenic886058642RCV000763515; RCV000271699; RCV000763515; RCV000763515; RCV000763515; RCV000763515; RCV000763515; RCV000763515; RCV000414605; NMedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MedGen:C0079294, Orphanet:ORPHA303,SNOMED CT:254185007; MedGen:C1275114,OMIM:604129, Orphanet:ORPHA89843,SNOMED CT:403810008; MedGen:C0432322,OMIM:131750, Orphanet:ORPHA231568; MedGen:C1843761,OMIM:607523; Human Ph34862825048628250-C0079294 Dystrophic epidermolysis bullosa;
NM_000094.3(COL7A1):c.1573C>T (p.Arg525Ter)1294COL7A1Pathogenic368007918RCV000763516; RCV000763516; RCV000763516; RCV000763516; RCV000763516; RCV000763516; RCV000763516; RCV000328456; NMedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MedGen:C1275114,OMIM:604129, Orphanet:ORPHA89843,SNOMED CT:403810008; MedGen:C0432322,OMIM:131750, Orphanet:ORPHA231568; MedGen:C1843761,OMIM:607523; Human Phenotype Ontology:HP:0012221,MedGen:C0432321,OMIM:1318534862896048628960-CN517202 not provided;
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg)1294COL7A1Pathogenic121912856RCV000626605; RCV000626606; RCV000763517; RCV000022479; RCV000763517; RCV000763517; RCV000763517; RCV000626605; RCV000763517; RCV000760149; RCV000763517; RCV000626605; RCV000763517; RCV000494404; NHuman Phenotype Ontology:HP:0000951,MedGen:C0037268; Human Phenotype Ontology:HP:0001798,MedGen:C3277900,OMIM:206800,SNOMED CT:23610003; MedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MedGen:C2673612; MedGen:C1275114,OMIM:604129, Orphanet:ORPHA89843,SNOMED C34863097148630971OMIM Allelic Variant:120120.0045,UniProtKB (protein):Q02388#VAR_001809C0037268 Abnormality of the skin;
NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter)1294COL7A1Pathogenic1203706188RCV000763518; RCV000763518; RCV000763518; RCV000763518; RCV000763518; RCV000763518; RCV000763518; RCV000523190; NMedGen:C0268371,OMIM:132000,SNOMED CT:2689001; MedGen:C1275114,OMIM:604129, Orphanet:ORPHA89843,SNOMED CT:403810008; MedGen:C0432322,OMIM:131750, Orphanet:ORPHA231568; MedGen:C1843761,OMIM:607523; Human Phenotype Ontology:HP:0012221,MedGen:C0432321,OMIM:1318534863098748630987-CN517202 not provided;
NM_007101.3(SARDH):c.2167C>T (p.Arg723Ter)1757SARDHAffects149391396RCV000032645; NHuman Phenotype Ontology:HP:0010896,MedGen:C0268563,OMIM:268900, Orphanet:ORPHA3129,SNOMED CT:648520029136536816136536816OMIM Allelic Variant:604455.0003C0268563 268900 Sarcosine dehydrogenase deficiency;
NM_007101.3(SARDH):c.1540C>T (p.Arg514Ter)1757SARDHAffects140559739RCV000032646; NHuman Phenotype Ontology:HP:0010896,MedGen:C0268563,OMIM:268900, Orphanet:ORPHA3129,SNOMED CT:648520029136570084136570084OMIM Allelic Variant:604455.0004C0268563 268900 Sarcosine dehydrogenase deficiency;
NM_007101.3(SARDH):c.860C>T (p.Pro287Leu)1757SARDHAffects149481147RCV000032644; NHuman Phenotype Ontology:HP:0010896,MedGen:C0268563,OMIM:268900, Orphanet:ORPHA3129,SNOMED CT:648520029136594942136594942OMIM Allelic Variant:604455.0002,UniProtKB (protein):Q9UL12#VAR_069273C0268563 268900 Sarcosine dehydrogenase deficiency;
NM_007101.3(SARDH):c.211G>T (p.Val71Phe)1757SARDHAffects397514504RCV000032643; NHuman Phenotype Ontology:HP:0010896,MedGen:C0268563,OMIM:268900, Orphanet:ORPHA3129,SNOMED CT:648520029136599085136599085OMIM Allelic Variant:604455.0001,UniProtKB (protein):Q9UL12#VAR_069272C0268563 268900 Sarcosine dehydrogenase deficiency;
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