MCID: SRC015
MIFTS: 30

Sarcosinemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Sarcosinemia

About this section
Sources:
24GeneTests, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Sarcosinemia:

Name: Sarcosinemia 52 48 24 54 70 50 68
Sarcosine Dehydrogenase Complex Deficiency 48 54 70
Hypersarcosinemia 48 70
Sardh Deficiency 48 70
 
Sard Deficiency 48 70
Sardhd 70
Sarcos 70

Characteristics:

Orphanet epidemiological data:

54
sarcosinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

64
sarcosinemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 268900
Orphanet54 ORPHA3129
MESH via Orphanet40 C537236
UMLS via Orphanet69 C0268563
ICD10 via Orphanet31 E72.5
MedGen37 C0268563
MeSH39 D000592

Summaries for Sarcosinemia

About this section
NIH Rare Diseases:48 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, and related mouse phenotype shRNA abundance <= 50%.

OMIM:52 Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of... (268900) more...

UniProtKB/Swiss-Prot:70 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:71 Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... more...

Related Diseases for Sarcosinemia

About this section

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 & Phenotypes for Sarcosinemia

About this section

Symptoms by clinical synopsis from OMIM:

268900

Clinical features from OMIM:

268900

Human phenotypes related to Sarcosinemia:

 64
id Description HPO Frequency HPO Source Accession
1 hypersarcosinemia64 HP:0010896

GenomeRNAi Phenotypes related to Sarcosinemia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00343-S8.5DMGDH, PDP1, SARDH

Drugs & Therapeutics for Sarcosinemia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Sarcosinemia

Genetic Tests for Sarcosinemia

About this section

Genetic tests related to Sarcosinemia:

id Genetic test Affiliating Genes
1 Sarcosinemia24 SARDH

Anatomical Context for Sarcosinemia

About this section

MalaCards organs/tissues related to Sarcosinemia:

36
Liver

Publications for Sarcosinemia

About this section

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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

70
id Symbol AA change Variation ID SNP ID
1SARDHp.Val71PheVAR_069272rs397514504
2SARDHp.Pro287LeuVAR_069273rs149481147

Expression for genes affiliated with Sarcosinemia

About this section
Search GEO for disease gene expression data for Sarcosinemia.

Pathways for genes affiliated with Sarcosinemia

About this section

GO Terms for genes affiliated with Sarcosinemia

About this section

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:00424269.7DMGDH, SARDH
2oxidation-reduction processGO:00551149.0DMGDH, SARDH

Sources for Sarcosinemia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet