MCID: SRC015
MIFTS: 33

Sarcosinemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Sarcosinemia

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OMIM:45 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.

Wikipedia:63 Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... more...

Aliases & Classifications for Sarcosinemia

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Sources:
41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 45OMIM, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Sarcosinemia, Aliases & Descriptions:

Name: Sarcosinemia 41 20 43 47 45 60
Sarcosine Dehydrogenase Complex Deficiency 41 47
Sarcosin Dehydrogenase Complex, Deficiency of 41
Hypersarcosinemia 41
 
Sardh Deficiency 41
Sar Deficiency 41
Sar 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
sarcosinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Orphanet47 3129
MESH via Orphanet34 C537236
ICD10 via Orphanet26 E72.5
UMLS via Orphanet61 C0268563
OMIM45 268900

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 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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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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Clinvar genetic disease variations for Sarcosinemia:

6
id Gene Variation 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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
choline degradation I36
glycine biosynthesis III36
serine and glycine biosynthesis36
glycine betaine degradation36
glycine biosynthesis36
9.3SARDH, DMGDH
2
Show member pathways
8.5PDP1, SARDH, DMGDH

Compounds for genes affiliated with Sarcosinemia

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank
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Compounds related to Sarcosinemia according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1dimethylglycine43 2410.6SARDH, DMGDH
2sarcosine43 2410.6SARDH, DMGDH
3Norspermidine249.6SARDH, DMGDH
4n1-acetylspermine43 2410.6DMGDH, SARDH
5putrescine43 28 24 1212.5SARDH, DMGDH
6spermidine43 28 24 1212.5SARDH, DMGDH
7spermine28 43 24 1212.4SARDH, DMGDH
8formaldehyde43 2410.3DMGDH, SARDH
9FAD249.2SARDH, DMGDH
10acyl-coa439.2PDP1, DMGDH
11folate439.0SARDH, DMGDH
12lactate439.0PDP1, SARDH
13Water248.7DMGDH, SARDH, PDP1

GO Terms for genes affiliated with Sarcosinemia

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Cellular components related to Sarcosinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057598.5PDP1, SARDH, DMGDH

Biological processes related to Sarcosinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycine catabolic processGO:00065469.3SARDH, DMGDH

Molecular functions related to Sarcosinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1aminomethyltransferase activityGO:00040479.3SARDH, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet