Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..Sarcosinemia (C537236)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Ataxia Neuropathy Spectrum (C579922)
..Bjornstad syndrome (C537633)
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)
..Childhood Myocerebrohepatopathy Spectrum (C579990)
..Coenzyme Q10 Deficiency (C564403)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Cowden-Like Syndrome (C567337)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deoxyguanosine Kinase Deficiency (C580039)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Friedreich Ataxia (D005621) 6
..Hypermetabolism due to Defect in Mitochondria (C565498)
..Hypomyelination, Global Cerebral (C567847)
..Hypotonia-Cystinuria Syndrome (C564710)
..Kearns-Sayre Syndrome (D007625) 1
..Leigh Disease (D007888) 12
..Leukodystrophy, Hypomyelinating, 4 (C567390)
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Mitochondrial complex I deficiency (C537475)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Complex III Deficiency (C565128)
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Mitochondrial Phosphate Carrier Deficiency (C563665)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Mitochondrial Dysfunctions Syndrome (C565304)
..MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Navajo neurohepatopathy (C538344) 1
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Autosomal Dominant (D029241)
..Optic Atrophy, Hereditary, Leber (D029242) 1
..Parkinson Disease, Mitochondrial (C564015)
..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Sarcosinemia (C537236)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Succinate-Coa Ligase Deficiency (C580473)
..VDAC Deficiency (C565767)
..VLCAD deficiency (C536353)
..Wolfram Syndrome 2 (C565733)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, 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:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C537236
MeSH: C537236
OMIM: 268900;

Genes: SARDH;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0010896	Hypersarcosinemia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg)	1294	COL7A1	Pathogenic	121912832	RCV000018976;	N	MedGen:C0268371,OMIM:132000,SNOMED CT:2689001	3	48612945	48612945	NM_000094.3:c.6007G>A	NP_000085.1:p.Gly2003Arg	NC_000003.11:g.48612945C>T	OMIM Allelic Variant:120120.0008	C0268371 132000 Dominant dystrophic epidermolysis bullosa with absence of skin; C0268563 268900 Sarcosine dehydrogenase deficiency
NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg)	1294	COL7A1	not provided	121912841	RCV000144373;	N	MedGen:C0268371,OMIM:132000,SNOMED CT:2689001	3	48615930	48615930	NM_000094.3:c.5443G>A	NP_000085.1:p.Gly1815Arg	NC_000003.11:g.48615930C>T	COL7A1 database:COL7A1_00229	C0268371 132000 Dominant dystrophic epidermolysis bullosa with absence of skin; C0268563 268900 Sarcosine dehydrogenase deficiency
NM_007101.3(SARDH):c.2167C>T (p.Arg723Ter)	1757	SARDH	Affects	149391396	RCV000032645;	N	MedGen:C0268563,OMIM:268900,ORPHA:3129,SNOMED CT:64852002	9	136536816	136536816	NM_007101.3:c.2167C>T	NP_009032.2:p.Arg723Ter	NC_000009.11:g.136536816G>A	OMIM Allelic Variant:604455.0003	C0268563 268900 Sarcosine dehydrogenase deficiency
NM_007101.3(SARDH):c.1540C>T (p.Arg514Ter)	1757	SARDH	Affects	140559739	RCV000032646;	N	MedGen:C0268563,OMIM:268900,ORPHA:3129,SNOMED CT:64852002	9	136570084	136570084	NM_007101.3:c.1540C>T	NP_009032.2:p.Arg514Ter	NC_000009.11:g.136570084G>A	OMIM Allelic Variant:604455.0004	C0268563 268900 Sarcosine dehydrogenase deficiency
NM_007101.3(SARDH):c.860C>T (p.Pro287Leu)	1757	SARDH	Affects	149481147	RCV000032644;	N	MedGen:C0268563,OMIM:268900,ORPHA:3129,SNOMED CT:64852002	9	136594942	136594942	NM_007101.3:c.860C>T	NP_009032.2:p.Pro287Leu	NC_000009.11:g.136594942G>A	OMIM Allelic Variant:604455.0002	C0268563 268900 Sarcosine dehydrogenase deficiency
NM_007101.3(SARDH):c.211G>T (p.Val71Phe)	1757	SARDH	Affects	397514504	RCV000032643;	N	MedGen:C0268563,OMIM:268900,ORPHA:3129,SNOMED CT:64852002	9	136599085	136599085	NM_007101.3:c.211G>T	NP_009032.2:p.Val71Phe	NC_000009.11:g.136599085C>A	OMIM Allelic Variant:604455.0001	C0268563 268900 Sarcosine dehydrogenase deficiency