MCID: SRC015
MIFTS: 32

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 gastric cancer and pituitary adenoma, 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 and b cells.

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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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 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, 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
Refsum Disease Presenting with a Late-Onset Leukodystrophy. (25604618)
2015
2
Outcomes of Primary Ligation of Patent Ductus Arteriosus Compared With Secondary Ligation After Pharmacologic Failure in Very-Low-Birth-Weight Infants. (24370764)
2013
3
Regarding "Preoperative prediction of mortality within 1 year after elective thoracic endovascular aortic aneurysm repair". (23535047)
2013
4
Insulin in the medical management of postprandial hypoglycemia in a patient with type 2 diabetes after gastric bypass surgery. (22937294)
2012
5
Growth speed of sporadic pheochromocytoma. (22243126)
2012
6
Protection of chickens against infectious bronchitis by a recombinant fowlpox virus co-expressing IBV-S1 and chicken IFNgamma. (19786144)
2009
7
Relative efficacy of atorvastatin 80 mg and pravastatin 40 mg in achieving the dual goals of low-density lipoprotein cholesterol <70 mg/dl and C-reactive protein <2 mg/l: an analysis of the PROVE-IT TIMI-22 trial. (15893181)
2005
8
Clinical relevance of Flt1 and Tie1 angiogenesis receptors expression in B-cell chronic lymphocytic leukemia (CLL). (11248324)
2001
9
Protection against severe disease is conferred by DERAA-bearing HLA-DRB1 alleles among HLA-DQ3 and HLA-DQ5 positive rheumatoid arthritis patients. (11334677)
2001
10
Characterization of a DNA binding site that mediates the stimulatory effect of cyclosporin-A on type III collagen expression in renal cells. (10831628)
2000
11
Role of cytokines in determining T-lymphocyte function. (7917115)
1994

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