MCID: SRC015
MIFTS: 35

Sarcosinemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Sarcosinemia

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Sources:
45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 49OMIM, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Sarcosinemia:

Name: Sarcosinemia 45 22 47 51 49 65 67
Sarcosine Dehydrogenase Complex Deficiency 51 67
Hypersarcosinemia 45 67
Sardh Deficiency 45 67
Sarcosin Dehydrogenase Complex, Deficiency of 45
 
Sard Deficiency 67
Sar Deficiency 45
Sardhd 67
Sarcos 67
Sar 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
sarcosinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Orphanet51 3129
ICD10 via Orphanet28 E72.5
MESH via Orphanet37 C537236
UMLS via Orphanet66 C0268563
OMIM49 268900
MedGen34 C0268563
MeSH36 D000592

Summaries for Sarcosinemia

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OMIM:49 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 drug rash with eosinophilia and systemic symptoms, 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.

UniProtKB/Swiss-Prot:67 Sarcosinemia: A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with mental retardation and neurologic problems.

Wikipedia:68 Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... more...

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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Sarcosinemia

Genetic Tests for Sarcosinemia

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Genetic tests related to Sarcosinemia:

id Genetic test Affiliating Genes
1 Sarcosinemia22 SARDH

Anatomical Context for Sarcosinemia

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Animal Models for Sarcosinemia or affiliated genes

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MGI Mouse Phenotypes related to Sarcosinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Sarcosinemia

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Articles related to Sarcosinemia:

(show all 11)
idTitleAuthorsYear
1
Chemically induced acute model of sarcosinemia in wistar rats. (26563127)
2015
2
A young adult with sarcosinemia. No benefit from long duration treatment with memantine. (23430553)
2013
3
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. (22825317)
2012
4
Rare neurodevelopmental abnormalities of sarcosinemia may involve glycinergic stimulation of a primed N-methyl-d-aspartate receptor. (17095900)
2006
5
Molecular clonging of the human dimethyglycine dehydrogenase-like gene (DMGDHL1) from the sarcosinemia critical region at 9q34]. (10876657)
1999
6
Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. (10444331)
1999
7
The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34. (8812433)
1996
8
sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis. (1372986)
1992
9
Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia. (6207480)
1984
10
A Spanish family with sarcosinemia. (4677036)
1972
11
Clinical and cellular studies of sarcosinemia. (5504071)
1970

Variations for Sarcosinemia

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UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

67
id Symbol AA change Variation ID SNP ID
1SARDHp.Val71PheVAR_069272
2SARDHp.Pro287LeuVAR_069273rs149481147

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
9.0DMGDH, SARDH
2
Show member pathways
8.5DMGDH, PDP1, SARDH

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:00057598.5DMGDH, PDP1, SARDH
2mitochondrionGO:00057398.2DMGDH, PDP1, SARDH

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

idNameGO IDScoreTop Affiliating Genes
1oxidation-reduction processGO:00551149.0DMGDH, SARDH

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activityGO:00164919.0DMGDH, SARDH

Sources for Sarcosinemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet