SAR
MCID: SRC015
MIFTS: 36

Sarcosinemia (SAR) malady

Metabolic diseases category

Summaries for Sarcosinemia

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Sources:
3CDC, 63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 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:46 268900

Aliases & Classifications for Sarcosinemia

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Sources:
42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

sarcosinemia 42 20 44 48 46 60
sarcosin dehydrogenase complex, deficiency of 42
sarcosine dehydrogenase complex deficiency 48
hypersarcosinemia 42
sardh deficiency 42
sar deficiency 42
sar 42


External Ids:

OMIM46 268900
MESH via Orphanet35 C537236
ICD10 via Orphanet26 E72.5
SNOMED-CT via Orphanet57 64852002
UMLS via Orphanet61 C0268563

Related Diseases for Sarcosinemia

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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

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Sources:
46OMIM
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Clinical features from OMIM:

268900

Clinical synopsis from OMIM:

268900

Drugs & Therapeutics for Sarcosinemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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Sources:
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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Genetic Variations for Sarcosinemia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Sarcosinemia:

62
id Symbol AA change Variation ID SNP ID
1SARDHp.Val71PheVAR_069272
2SARDHp.Pro287LeuVAR_069273rs149481147

Expression for genes affiliated with Sarcosinemia

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Sources:
1BioGPS, 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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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG
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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
39.4SARDH, DMGDH
4
Hide members
8.4PDP1, PDPR, DMGDH, SARDH

Compounds for genes affiliated with Sarcosinemia

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Sarcosinemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dimethylglycine44 2410.5SARDH, DMGDH
2sarcosine44 2410.4DMGDH, SARDH
3folate449.4SARDH, DMGDH
4acyl-coa449.2PDP1, DMGDH
5formaldehyde44 2410.1SARDH, DMGDH
6n1-acetylspermine44 2410.1DMGDH, SARDH, PDPR
7putrescine44 28 11 2412.1PDPR, SARDH, DMGDH
8spermidine44 28 11 2412.0DMGDH, SARDH, PDPR
9spermine44 28 11 2412.0PDPR, DMGDH, SARDH

GO Terms for genes affiliated with Sarcosinemia

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sarcosinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet