MCID: SRC015
MIFTS: 30

Sarcosinemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Sarcosinemia

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Sources:
24GeneTests, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Sarcosinemia:

Name: Sarcosinemia 51 47 24 53 69 49 67
Sarcosine Dehydrogenase Complex Deficiency 47 53 69
Hypersarcosinemia 47 69
Sardh Deficiency 47 69
 
Sard Deficiency 47 69
Sardhd 69
Sarcos 69

Characteristics:

Orphanet epidemiological data:

53
sarcosinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

63
sarcosinemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 268900
Orphanet53 ORPHA3129
MESH via Orphanet39 C537236
UMLS via Orphanet68 C0268563
ICD10 via Orphanet30 E72.5
MedGen36 C0268563
MeSH38 D000592

Summaries for Sarcosinemia

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NIH Rare Diseases:47 Sarcosinemia is a rare inborn error of metabolism characterized by an increased level of the amino acid sarcosine in the blood and urine. It is reportedly most likely benign, unrelated to significant signs or symptoms. A number of children have been detected by newborn screening and have remained symptom-free. Some reports have associated sarcosinemia with various symptoms including intellectual disability and other neurologic problems; growth failure; enlarged liver; cardiomyopathy; vision or hearing problems; and skeletal abnormalities. However, whether symptoms were attributable to sarcosinemia or were coincidental is controversial. Sarcosinemia is sometimes caused by mutations in the SARDH gene and is inherited in an autosomal recessive manner. It may also occur in some people with glutaric acidemia type II or severe folic acid deficiency. In some cases, the cause is unknown. Last updated: 5/9/2016

MalaCards based summary: Sarcosinemia, also known as sarcosine dehydrogenase complex deficiency, is related to darier disease and colorectal cancer, and has symptoms including hypersarcosinemia An important gene associated with Sarcosinemia is SARDH (Sarcosine Dehydrogenase), and among its related pathways are Glycine, serine and threonine metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include liver.

UniProtKB/Swiss-Prot:69 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.

OMIM:51 Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of... (268900) more...

Wikipedia:70 Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... more...

Related Diseases for Sarcosinemia

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Diseases related to Sarcosinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1darier disease9.8
2colorectal cancer9.7
3asthma9.7
4wolfram syndrome9.7
5duchenne muscular dystrophy9.7
6atrial fibrillation9.7
7ovarian cancer9.7
8pancreatitis9.7
9muscular dystrophy9.7
10doxorubicin induced cardiomyopathy9.7
11pseudomyotonia9.7
12cardiomyopathy9.7
13spinal muscular atrophy-19.5DMGDH, SARDH
14panencephalitis, subacute sclerosing8.8DMGDH, PDP1, SARDH

Graphical network of 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

Human phenotypes related to Sarcosinemia:

 63
id Description HPO Frequency HPO Source Accession
1 hypersarcosinemia63 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 Sarcosinemia24 SARDH

Anatomical Context for Sarcosinemia

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MalaCards organs/tissues related to Sarcosinemia:

35
Liver

Animal Models for Sarcosinemia or affiliated genes

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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:

69
id Symbol AA change Variation ID SNP ID
1SARDHp.Val71PheVAR_069272rs397514504
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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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

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

idNameGO IDScoreTop Affiliating Genes
1choline catabolic processGO:00424269.4DMGDH, SARDH
2oxidation-reduction processGO:00551149.0DMGDH, SARDH

Sources for Sarcosinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet