SAR
MCID: SRC015
MIFTS: 39

Sarcosinemia (SAR) malady

Genetic diseases, Rare diseases, Metabolic diseases categories
Download this MalaCard

Summaries for Sarcosinemia

About this section


Fully expand this MalaCard
Wikipedia:65 Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... 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 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:3 Remembering the 2003 global SARS outbreak...More

Description from OMIM:46 268900

Aliases & Classifications for Sarcosinemia

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Sarcosinemia, Aliases & Descriptions:

Name: Sarcosinemia 42 20 44 48 46 62
Sarcosine Dehydrogenase Complex Deficiency 48 62
Sardh Deficiency 42 62
Sarcosin Dehydrogenase Complex, Deficiency of 42
 
Hypersarcosinaemia 62
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 Orphanet26 E72.5
UMLS via Orphanet63 C0268563

Related Diseases for Sarcosinemia

About this section

Graphical network of the top 20 diseases related to Sarcosinemia:



Diseases related to sarcosinemia

Symptoms for Sarcosinemia

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Sarcosinemia

Search NIH Clinical Center for Sarcosinemia

Genetic Tests for Sarcosinemia

About this section

Genetic tests related to Sarcosinemia:

id Genetic test Affiliating Genes
1 Sarcosinemia20 SARDH

Anatomical Context for Sarcosinemia

About this section

Animal Models for Sarcosinemia or affiliated genes

About this section

Publications for Sarcosinemia

About this section

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

About this section

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:

6
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

About this section
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

About this section

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

About this section
Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Sarcosinemia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1dimethylglycine44 2410.6SARDH, DMGDH
2sarcosine44 2410.6SARDH, DMGDH
3Norspermidine249.6DMGDH, SARDH
4n1-acetylspermine44 2410.6SARDH, DMGDH
5putrescine44 28 24 1112.5SARDH, DMGDH
6spermidine44 28 24 1112.5DMGDH, SARDH
7spermine28 44 24 1112.4DMGDH, SARDH
8formaldehyde44 2410.3SARDH, DMGDH
9FAD249.2DMGDH, SARDH
10acyl-coa449.2DMGDH, PDP1
11folate449.0SARDH, DMGDH
12lactate449.0SARDH, PDP1
13Water248.7PDP1, SARDH, DMGDH

GO Terms for genes affiliated with Sarcosinemia

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Sarcosinemia

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet