SAR
MCID: SRC015
MIFTS: 40

Sarcosinemia (SAR) malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Sarcosinemia

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OMIM:46 Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of... (268900) more...

MalaCards based summary: Sarcosinemia, also known as sarcosine dehydrogenase complex deficiency, is related to severe acute respiratory syndrome and pneumonia, and has symptoms including autosomal recessive inheritanceand hypersarcosinemia. 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

Wikipedia:64 Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... more...

Aliases & Classifications for Sarcosinemia

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Sources:
42NIH Rare Diseases, 21GeneTests, 44Novoseek, 48Orphanet, 46OMIM, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Sarcosinemia, Aliases & Descriptions:

Name: Sarcosinemia 42 21 44 48 46 61
Sarcosine Dehydrogenase Complex Deficiency 48 61
Sardh Deficiency 42 61
Sarcosin Dehydrogenase Complex, Deficiency of 42
 
Hypersarcosinaemia 61
Hypersarcosinemia 42
Sar Deficiency 42
Sar 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
sarcosinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


External Ids:

OMIM46 268900
MESH via Orphanet35 C537236
ICD10 via Orphanet27 E72.5
UMLS via Orphanet62 C0268563

Related Diseases for Sarcosinemia

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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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Symptoms by clinical synopsis from OMIM:

268900

Clinical features from OMIM:

268900

HPO human phenotypes related to Sarcosinemia:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypersarcosinemia HP:0010896

Drugs & Therapeutics for Sarcosinemia

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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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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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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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UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

63
id Symbol AA change Variation ID SNP ID
1SARDHp.Val71PheVAR_069272
2SARDHp.Pro287LeuVAR_069273rs149481147

Clinvar genetic disease variations for Sarcosinemia:

7
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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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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Pathways related to Sarcosinemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
choline degradation I37
glycine biosynthesis III37
serine and glycine biosynthesis37
glycine betaine degradation37
glycine biosynthesis37
9.3SARDH, DMGDH
2
Show member pathways
8.5PDP1, SARDH, DMGDH

Compounds for genes affiliated with Sarcosinemia

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Sources:
44Novoseek, 25HMDB, 29IUPHAR, 12DrugBank
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Compounds related to Sarcosinemia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1dimethylglycine44 2510.6DMGDH, SARDH
2sarcosine44 2510.6DMGDH, SARDH
3Norspermidine259.6DMGDH, SARDH
4n1-acetylspermine44 2510.6SARDH, DMGDH
5putrescine44 29 25 1212.5DMGDH, SARDH
6spermidine44 29 25 1212.5SARDH, DMGDH
7spermine29 44 25 1212.4DMGDH, SARDH
8formaldehyde44 2510.3DMGDH, SARDH
9FAD259.2SARDH, DMGDH
10acyl-coa449.2DMGDH, PDP1
11folate449.0SARDH, DMGDH
12lactate449.0SARDH, PDP1
13Water258.7SARDH, DMGDH, PDP1

GO Terms for genes affiliated with Sarcosinemia

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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
  • Proteins
  • Kits and Assays

Sources for Sarcosinemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet