SAR
MCID: SRC015
MIFTS: 39

Sarcosinemia (SAR) malady

Genetic diseases, Rare diseases categories
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Summaries for Sarcosinemia

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4CDC, 65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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:47 268900

Aliases & Classifications for Sarcosinemia

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43NIH Rare Diseases, 20GeneTests, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
sarcosinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

sarcosinemia 43 20 45 49 47 62
sarcosin dehydrogenase complex, deficiency of 43
sarcosine dehydrogenase complex deficiency 49
hypersarcosinemia 43
sardh deficiency 43
sar deficiency 43
sar 43


External Ids:

OMIM47 268900
MESH via Orphanet36 C537236
ICD10 via Orphanet26 E72.5
SNOMED-CT via Orphanet59 64852002
UMLS via Orphanet63 C0268563

Related Diseases for Sarcosinemia

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17GeneCards, 18GeneDecks
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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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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Sarcosinemia

Search NIH Clinical Center for Sarcosinemia

Genetic Tests for Sarcosinemia

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20GeneTests
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Genetic tests related to Sarcosinemia:

id Genetic test Affiliating Genes
1 Sarcosinemia20 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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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

64
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, 15Gene 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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50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome
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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 I38
glycine biosynthesis III38
serine and glycine biosynthesis38
glycine betaine degradation38
glycine biosynthesis38
9.3SARDH, DMGDH
2
Show member pathways
8.5PDP1, SARDH, DMGDH

Compounds for genes affiliated with Sarcosinemia

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45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Sarcosinemia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1dimethylglycine45 2410.6SARDH, DMGDH
2sarcosine45 2410.6SARDH, DMGDH
3Norspermidine249.6SARDH, DMGDH
4n1-acetylspermine45 2410.6DMGDH, SARDH
5putrescine45 29 24 1112.5SARDH, DMGDH
6spermidine45 29 24 1112.5SARDH, DMGDH
7spermine29 45 24 1112.4SARDH, DMGDH
8formaldehyde45 2410.3DMGDH, SARDH
9FAD249.2SARDH, DMGDH
10acyl-coa459.2PDP1, DMGDH
11folate459.0SARDH, DMGDH
12lactate459.0PDP1, SARDH
13Water248.7DMGDH, SARDH, PDP1

GO Terms for genes affiliated with Sarcosinemia

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet