SAR
MCID: SRC015
MIFTS: 39

Sarcosinemia (SAR) malady

Genetic diseases, Rare diseases categories

Summaries for Sarcosinemia

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4CDC, 66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... more...

MalaCards: Sarcosinemia, also known as sarcosin dehydrogenase complex, deficiency of, is related to severe acute respiratory syndrome and pneumonia. An important gene associated with Sarcosinemia is SARDH (sarcosine dehydrogenase), and among its related pathways are Glycine, serine and threonine metabolism and Metabolism. The compounds dimethylglycine and sarcosine have been mentioned in the context of this disorder.

CDC:4 Remembering the 2003 global SARS outbreak...More

Description from OMIM:48 268900

Aliases & Classifications for Sarcosinemia

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44NIH Rare Diseases, 21GeneTests, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

50
sarcosinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

sarcosinemia 44 21 46 50 48 63
sarcosin dehydrogenase complex, deficiency of 44
sarcosine dehydrogenase complex deficiency 50
hypersarcosinemia 44
sardh deficiency 44
sar deficiency 44
sar 44


External Ids:

OMIM48 268900
MESH via Orphanet37 C537236
ICD10 via Orphanet27 E72.5
SNOMED-CT via Orphanet60 64852002
UMLS via Orphanet64 C0268563

Related Diseases for Sarcosinemia

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Sarcosinemia:



Diseases related to sarcosinemia

Symptoms for Sarcosinemia

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48OMIM
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Symptoms by clinical synopsis from OMIM:

268900

Clinical features from OMIM:

268900

Drugs & Therapeutics for Sarcosinemia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Sarcosinemia

Drug clinical trials:

Search ClinicalTrials for Sarcosinemia

Search NIH Clinical Center for Sarcosinemia

Search CenterWatch for Sarcosinemia

Genetic Tests for Sarcosinemia

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21GeneTests
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Genetic tests related to Sarcosinemia:

id Genetic test Affiliating Genes
1 Sarcosinemia21 SARDH

Anatomical Context for Sarcosinemia

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Animal Models for Sarcosinemia or affiliated genes

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Publications for Sarcosinemia

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53PubMed
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Articles related to Sarcosinemia:

idTitleAuthorsYear
1
A young adult with sarcosinemia. No benefit from long duration treatment with memantine. (23430553)
2013
2
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. (22825317)
2012
3
Rare neurodevelopmental abnormalities of sarcosinemia may involve glycinergic stimulation of a primed N-methyl-d-aspartate receptor. (17095900)
2006
4
Molecular clonging of the human dimethyglycine dehydrogenase-like gene (DMGDHL1) from the sarcosinemia critical region at 9q34]. (10876657)
1999
5
Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. (10444331)
1999
6
The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34. (8812433)
1996
7
sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis. (1372986)
1992
8
Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia. (6207480)
1984
9
A Spanish family with sarcosinemia. (4677036)
1972
10
Clinical and cellular studies of sarcosinemia. (5504071)
1970

Variations for Sarcosinemia

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

65
id Symbol AA change Variation ID SNP ID
1SARDHp.Val71PheVAR_069272
2SARDHp.Pro287LeuVAR_069273rs149481147

Clinvar genetic disease variations for Sarcosinemia:

1
id Gene Name Type Significance SNP ID Assembly Location
1SARDHNM_007101.3(SARDH): c.211G> T (p.Val71Phe)single nucleotide variantPathogenicrs397514504GRCh37Chr 9, 136599085: 136599085
2SARDHNM_007101.3(SARDH): c.860C> T (p.Pro287Leu)single nucleotide variantPathogenicrs149481147GRCh37Chr 9, 136594942: 136594942
3SARDHNM_007101.3(SARDH): c.2167C> T (p.Arg723Ter)single nucleotide variantPathogenicrs149391396GRCh37Chr 9, 136536816: 136536816
4SARDHNM_007101.3(SARDH): c.1540C> T (p.Arg514Ter)single nucleotide variantPathogenicrs140559739GRCh37Chr 9, 136570084: 136570084

Expression for genes affiliated with Sarcosinemia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sarcosinemia

Search GEO for disease gene expression data for Sarcosinemia.

Pathways for genes affiliated with Sarcosinemia

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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome
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Pathways related to Sarcosinemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
choline degradation I39
glycine biosynthesis III39
serine and glycine biosynthesis39
glycine betaine degradation39
glycine biosynthesis39
9.3SARDH, DMGDH
2
Show member pathways
8.5PDP1, SARDH, DMGDH

Compounds for genes affiliated with Sarcosinemia

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46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank
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Compounds related to Sarcosinemia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1dimethylglycine46 2510.6SARDH, DMGDH
2sarcosine46 2510.6SARDH, DMGDH
3Norspermidine259.6SARDH, DMGDH
4n1-acetylspermine46 2510.6DMGDH, SARDH
5putrescine46 30 25 1212.5SARDH, DMGDH
6spermidine46 30 25 1212.5SARDH, DMGDH
7spermine30 46 25 1212.4SARDH, DMGDH
8formaldehyde46 2510.3DMGDH, SARDH
9FAD259.2SARDH, DMGDH
10acyl-coa469.2PDP1, DMGDH
11folate469.0SARDH, DMGDH
12lactate469.0PDP1, SARDH
13Water258.7DMGDH, SARDH, PDP1

GO Terms for genes affiliated with Sarcosinemia

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17Gene Ontology
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Cellular components related to Sarcosinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057598.5PDP1, SARDH, DMGDH

Biological processes related to Sarcosinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycine catabolic processGO:0065469.3SARDH, DMGDH

Molecular functions related to Sarcosinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1aminomethyltransferase activityGO:0040479.3SARDH, DMGDH

Products for genes affiliated with Sarcosinemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sarcosinemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet