MCID: SRC015
MIFTS: 33

Sarcosinemia

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Sarcosinemia

MalaCards integrated aliases for Sarcosinemia:

Name: Sarcosinemia 53 72 49 55 71 51 69
Sarcosine Dehydrogenase Complex Deficiency 53 49 55 71
Hypersarcosinemia 53 49 71
Sardh Deficiency 53 49 71
Sard Deficiency 53 49 71
Sarcos 53 71
Sardhd 53 71
Sardh Deficiency; Sardhd 53

Characteristics:

Orphanet epidemiological data:

55
sarcosinemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
sarcosinemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


External Ids:

OMIM 53 268900
Orphanet 55 ORPHA3129
MESH via Orphanet 42 C537236
UMLS via Orphanet 70 C0268563
ICD10 via Orphanet 33 E72.5
MedGen 39 C0268563
MeSH 41 D000592
SNOMED-CT via HPO 65 258211005 64852002
UMLS 69 C0268563

Summaries for Sarcosinemia

NIH Rare Diseases : 49 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 blood group, i system and colorectal cancer, and has symptoms including hypersarcosinemia 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. Affiliated tissues include liver, and related phenotype is shRNA abundance <= 50%.

OMIM : 53 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 : 71 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 : 72 Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... more...

Related Diseases for Sarcosinemia

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 blood group, i system 9.8
2 colorectal cancer 9.8
3 ovarian cancer 9.8
4 wolfram syndrome 1 9.8
5 sandhoff disease 9.8
6 muscular dystrophy, duchenne type 9.8
7 asthma 9.8
8 atrial fibrillation 9.8
9 wolfram syndrome 9.8
10 pancreatitis 9.8
11 muscular dystrophy 9.8
12 doxorubicin induced cardiomyopathy 9.8
13 pseudomyotonia 9.8
14 endotheliitis 9.8
15 dimethylglycine dehydrogenase deficiency 9.3 DMGDH SARDH

Graphical network of the top 20 diseases related to Sarcosinemia:



Diseases related to Sarcosinemia

Symptoms & Phenotypes for Sarcosinemia

Symptoms via clinical synopsis from OMIM:

53
Misc:
benign metabolic state producing no disease

Lab:
sarcosinemia
sarcosine dehydrogenase deficiency
sarcosinuria


Clinical features from OMIM:

268900

Human phenotypes related to Sarcosinemia:

31
# Description HPO Frequency HPO Source Accession
1 hypersarcosinemia 31 HP:0010896

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 8.8 DMGDH PDP1 SARDH

Drugs & Therapeutics for Sarcosinemia

Search Clinical Trials , NIH Clinical Center for Sarcosinemia

Genetic Tests for Sarcosinemia

Anatomical Context for Sarcosinemia

MalaCards organs/tissues related to Sarcosinemia:

38
Liver

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
[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

UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

71
# Symbol AA change Variation ID SNP ID
1 SARDH p.Val71Phe VAR_069272 rs397514504
2 SARDH p.Pro287Leu VAR_069273 rs149481147

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....