MCID: SRC015
MIFTS: 34

Sarcosinemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Sarcosinemia

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Sources:
45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 49OMIM, 67UniProtKB/Swiss-Prot, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Sarcosinemia:

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

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

HPO:

61
sarcosinemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

Orphanet51 3129
UMLS via Orphanet66 C0268563
ICD10 via Orphanet28 E72.5
MESH via Orphanet37 C537236
MedGen34 C0268563
MeSH36 D000592
OMIM49 268900
UMLS65 C0268563

Summaries for Sarcosinemia

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NIH Rare Diseases:45 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, breast and lung.

OMIM:49 Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of... (268900) more...

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1darier disease10.0
2colorectal cancer9.8
3asthma9.8
4wolfram syndrome9.8
5duchenne muscular dystrophy9.8
6atrial fibrillation9.8
7pancreatitis9.8
8muscular dystrophy9.8
9pseudomyotonia9.8
10spinal muscular atrophy-19.4DMGDH, SARDH
11satoyoshi syndrome8.7DMGDH, 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

HPO human phenotypes related to Sarcosinemia:

id Description Frequency HPO Source Accession
1 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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MalaCards organs/tissues related to Sarcosinemia:

33
Liver, Breast, Lung, Thyroid, Prostate, Pituitary, B cells

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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GO Terms for genes affiliated with Sarcosinemia

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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