SARCOS
MCID: SRC015
MIFTS: 31

Sarcosinemia (SARCOS)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Sarcosinemia

MalaCards integrated aliases for Sarcosinemia:

Name: Sarcosinemia 58 77 54 60 76 56 74
Sarcosine Dehydrogenase Complex Deficiency 58 54 60 76
Hypersarcosinemia 58 54 76
Sardh Deficiency 58 54 76
Sard Deficiency 58 54 76
Sarcos 58 76
Sardhd 58 76
Sardh Deficiency; Sardhd 58

Characteristics:

Orphanet epidemiological data:

60
sarcosinemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
sarcosinemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 268900
MeSH 45 D000592
MESH via Orphanet 46 C537236
ICD10 via Orphanet 35 E72.5
UMLS via Orphanet 75 C0268563
Orphanet 60 ORPHA3129
MedGen 43 C0268563
SNOMED-CT via HPO 70 258211005 64852002
UMLS 74 C0268563

Summaries for Sarcosinemia

NIH Rare Diseases : 54 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.

MalaCards based summary : Sarcosinemia, also known as sarcosine dehydrogenase complex deficiency, is related to craniosynostosis 1 and multiple acyl-coa dehydrogenase deficiency. An important gene associated with Sarcosinemia is SARDH (Sarcosine Dehydrogenase), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Glycine, serine and threonine metabolism. Related phenotype is hypersarcosinemia.

OMIM : 58 Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosine (N-methylglycine) is enzymatically formed from dimethylglycine by dimethylglycine dehydrogenase (EC 1.5.99.2) and converted to glycine by sarcosine dehydrogenase (SARDH; 604455; EC 1.5.99.1). Some reports have associated sarcosinemia with mental retardation and neurologic problems, but the disorder is most likely benign and unrelated to significant clinical problems (summary by Scott, 2001). (268900)

UniProtKB/Swiss-Prot : 76 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 : 77 Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... more...

Related Diseases for Sarcosinemia

Graphical network of the top 20 diseases related to Sarcosinemia:



Diseases related to Sarcosinemia

Symptoms & Phenotypes for Sarcosinemia

Human phenotypes related to Sarcosinemia:

33
# Description HPO Frequency HPO Source Accession
1 hypersarcosinemia 33 HP:0010896

Symptoms via clinical synopsis from OMIM:

58
Misc:
benign metabolic state producing no disease

Lab:
sarcosinemia
sarcosine dehydrogenase deficiency
sarcosinuria

Clinical features from OMIM:

268900

Drugs & Therapeutics for Sarcosinemia

Search Clinical Trials , NIH Clinical Center for Sarcosinemia

Genetic Tests for Sarcosinemia

Anatomical Context for Sarcosinemia

Publications for Sarcosinemia

Articles related to Sarcosinemia:

(show all 11)
# Title Authors Year
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
Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. ( 10444331 )
1999
6
[Molecular clonging of the human dimethyglycine dehydrogenase-like gene (DMGDHL1) from the sarcosinemia critical region at 9q34]. ( 10876657 )
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

UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

76
# Symbol AA change Variation ID SNP ID
1 SARDH p.Val71Phe VAR_069272 rs397514504
2 SARDH p.Pro287Leu VAR_069273 rs149481147

ClinVar genetic disease variations for Sarcosinemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SARDH NM_007101.3(SARDH): c.211G> T (p.Val71Phe) single nucleotide variant Affects rs397514504 GRCh37 Chromosome 9, 136599085: 136599085
2 SARDH NM_007101.3(SARDH): c.211G> T (p.Val71Phe) single nucleotide variant Affects rs397514504 GRCh38 Chromosome 9, 133733963: 133733963
3 SARDH NM_007101.3(SARDH): c.860C> T (p.Pro287Leu) single nucleotide variant Affects rs149481147 GRCh37 Chromosome 9, 136594942: 136594942
4 SARDH NM_007101.3(SARDH): c.860C> T (p.Pro287Leu) single nucleotide variant Affects rs149481147 GRCh38 Chromosome 9, 133729820: 133729820
5 SARDH NM_007101.3(SARDH): c.2167C> T (p.Arg723Ter) single nucleotide variant Affects rs149391396 GRCh37 Chromosome 9, 136536816: 136536816
6 SARDH NM_007101.3(SARDH): c.2167C> T (p.Arg723Ter) single nucleotide variant Affects rs149391396 GRCh38 Chromosome 9, 133671694: 133671694
7 SARDH NM_007101.3(SARDH): c.1540C> T (p.Arg514Ter) single nucleotide variant Affects rs140559739 GRCh37 Chromosome 9, 136570084: 136570084
8 SARDH NM_007101.3(SARDH): c.1540C> T (p.Arg514Ter) single nucleotide variant Affects rs140559739 GRCh38 Chromosome 9, 133704962: 133704962

Expression for Sarcosinemia

Search GEO for disease gene expression data for Sarcosinemia.

Pathways for Sarcosinemia

GO Terms for Sarcosinemia

Cellular components related to Sarcosinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 DMGDH PDP1 SARDH
2 mitochondrial matrix GO:0005759 8.8 DMGDH PDP1 SARDH

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.96 DMGDH SARDH
2 choline catabolic process GO:0042426 8.62 DMGDH SARDH

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 DMGDH SARDH

Sources for Sarcosinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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