SAR
MCID: SRC015
MIFTS: 34

Sarcosinemia (SAR) malady

Metabolic category

Summaries for Sarcosinemia

Sources:
3CDC, 64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 n syndrome. An important gene associated with Sarcosinemia is SARDH (sarcosine dehydrogenase), and among its related pathways are Pyruvate metabolism and glycine betaine degradation. The compounds dimethylglycine and sarcosine have been mentioned in the context of this disorder.

CDC:3 Remembering the 2003 global SARS outbreak...More

Description from OMIM:47 268900

Aliases & Classifications for Sarcosinemia

Sources:
43NIH Rare Diseases, 20GeneTests, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


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 61
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 Orphanet58 64852002
UMLS via Orphanet62 C0268563

Related Diseases for Sarcosinemia

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Sarcosinemia:



Diseases related to sarcosinemia

Clinical Features for Sarcosinemia

Sources:
47OMIM
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Clinical features from OMIM:

268900

Clinical synopsis from OMIM:

268900

Drugs & Therapeutics for Sarcosinemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests
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Genetic tests related to Sarcosinemia:

id Genetic test Affiliating Genes
1 Sarcosinemia20 SARDH

Anatomical Context for Sarcosinemia

Animal Models for Sarcosinemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Sarcosinemia

Sources:
51PubMed
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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

Genetic Variations for Sarcosinemia

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Sarcosinemia:

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

Expression for genes affiliated with Sarcosinemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

Pathways related to Sarcosinemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4PDPR, PDP1
29.4DMGDH, SARDH
39.4DMGDH, SARDH
4
Hide members
8.4SARDH, PDP1, PDPR, DMGDH

Compounds for genes affiliated with Sarcosinemia

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
See all sources

Compounds related to Sarcosinemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dimethylglycine45 2410.5DMGDH, SARDH
2sarcosine45 2410.4DMGDH, SARDH
3folate459.4DMGDH, SARDH
4acyl-coa459.2PDP1, DMGDH
5formaldehyde45 2410.1DMGDH, SARDH
6n1-acetylspermine45 2410.1DMGDH, PDPR, SARDH
7putrescine45 29 11 2412.1SARDH, PDPR, DMGDH
8spermidine45 29 11 2412.0DMGDH, PDPR, SARDH
9spermine45 29 11 2412.0SARDH, PDPR, DMGDH

GO Terms for genes affiliated with Sarcosinemia

Sources:
16Gene Ontology
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Cellular components related to Sarcosinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057598.4DMGDH, PDPR, PDP1, SARDH

Biological processes related to Sarcosinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular metabolic processGO:0442379.4PDPR, PDP1
2regulation of acetyl-CoA biosynthetic process from pyruvateGO:0105109.3PDPR, PDP1
3pyruvate metabolic processGO:0060909.1PDPR, PDP1
4glycine catabolic processGO:0065468.9DMGDH, PDPR, SARDH

Molecular functions related to Sarcosinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1aminomethyltransferase activityGO:0040478.9DMGDH, PDPR, SARDH

Products for genes affiliated with Sarcosinemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sarcosinemia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet