MCID: SRC015
MIFTS: 31

Sarcosinemia

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Sarcosinemia

MalaCards integrated aliases for Sarcosinemia:

Name: Sarcosinemia 54 50 24 56 71 52 69
Sarcosine Dehydrogenase Complex Deficiency 50 56 71
Hypersarcosinemia 50 71
Sardh Deficiency 50 71
Sard Deficiency 50 71
Sardhd 71
Sarcos 71

Characteristics:

Orphanet epidemiological data:

56
sarcosinemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
sarcosinemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 268900
Orphanet 56 ORPHA3129
MESH via Orphanet 43 C537236
UMLS via Orphanet 70 C0268563
ICD10 via Orphanet 34 E72.5
MedGen 40 C0268563
MeSH 42 D000592
SNOMED-CT via HPO 65 258211005 64852002

Summaries for Sarcosinemia

NIH Rare Diseases : 50 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 pancreatitis, 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%.

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.

OMIM : 54
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)

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 14)
id Related Disease Score Top Affiliating Genes
1 darier disease 9.8
2 pancreatitis 9.7
3 muscular dystrophy 9.7
4 doxorubicin induced cardiomyopathy 9.7
5 pseudomyotonia 9.7
6 cardiomyopathy 9.7
7 endotheliitis 9.7
8 colorectal cancer 9.7
9 asthma 9.7
10 wolfram syndrome 9.7
11 duchenne muscular dystrophy 9.7
12 atrial fibrillation 9.7
13 spinal muscular atrophy-1 9.4 DMGDH SARDH
14 panencephalitis, subacute sclerosing 8.6 DMGDH PDP1 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:

54

Misc:
benign metabolic state producing no disease

Lab:
sarcosinemia
sarcosine dehydrogenase deficiency
sarcosinuria


Clinical features from OMIM:

268900

Human phenotypes related to Sarcosinemia:

32
id Description HPO Frequency HPO Source Accession
1 hypersarcosinemia 32 HP:0010896

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

26
id 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

Genetic tests related to Sarcosinemia:

id Genetic test Affiliating Genes
1 Sarcosinemia 24 SARDH

Anatomical Context for Sarcosinemia

MalaCards organs/tissues related to Sarcosinemia:

39
Liver

Publications for Sarcosinemia

Articles related to Sarcosinemia:

(show all 11)
id 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
id 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:

id 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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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