SARCOS
MCID: SRC015
MIFTS: 37

Sarcosinemia (SARCOS)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Sarcosinemia

MalaCards integrated aliases for Sarcosinemia:

Name: Sarcosinemia 57 75 53 59 74 55 72
Sarcosine Dehydrogenase Complex Deficiency 57 53 59 74
Hypersarcosinemia 57 53 74
Sardh Deficiency 57 53 74
Sard Deficiency 57 53 74
Sarcos 57 74
Sardhd 57 74
Sardh Deficiency; Sardhd 57

Characteristics:

Orphanet epidemiological data:

59
sarcosinemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
sarcosinemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 268900
MeSH 44 D000592
MESH via Orphanet 45 C537236
ICD10 via Orphanet 34 E72.5
UMLS via Orphanet 73 C0268563
Orphanet 59 ORPHA3129
MedGen 42 C0268563
UMLS 72 C0268563

Summaries for Sarcosinemia

NIH Rare Diseases : 53 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 darier-white disease and osteoporosis. 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, prostate and kidney, and related phenotypes are hypersarcosinemia and hypersarcosinuria

OMIM : 57 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 : 74 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 : 75 Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal recessive... more...

Related Diseases for Sarcosinemia

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 darier-white disease 11.6
2 osteoporosis 10.3
3 bone mineral density quantitative trait locus 8 10.3
4 bone mineral density quantitative trait locus 15 10.3
5 neuroblastoma 1 10.2
6 helix syndrome 10.2
7 skin disease 10.2
8 hartnup disorder 10.2
9 autosomal recessive disease 10.2
10 respiratory failure 10.2
11 dystonia 10.2
12 multiple acyl-coa dehydrogenase deficiency 10.2
13 organic acidemia 10.2
14 hypoglycemia 10.2
15 acyl-coa dehydrogenase deficiency 10.2
16 colorectal cancer 10.2
17 heart disease 10.2
18 congestive heart failure 10.2
19 hypercholesterolemia, familial, 1 10.1
20 brody myopathy 10.1
21 leukemia 10.1
22 hyperglycemia 10.1
23 muscular dystrophy 10.1
24 48,xyyy 10.1
25 alzheimer disease 9.9
26 atherosclerosis susceptibility 9.9
27 atrial standstill 1 9.9
28 myositis 9.9
29 ovarian cancer 9.9
30 papillomatosis, confluent and reticulated 9.9
31 retinoblastoma 9.9
32 wolfram syndrome 1 9.9
33 sandhoff disease 9.9
34 asplenia, isolated congenital 9.9
35 muscular dystrophy, duchenne type 9.9
36 asthma 9.9
37 cervical cancer 9.9
38 microvascular complications of diabetes 3 9.9
39 microvascular complications of diabetes 4 9.9
40 microvascular complications of diabetes 6 9.9
41 microvascular complications of diabetes 7 9.9
42 cyanosis, transient neonatal 9.9
43 chikungunya 9.9
44 familial adenomatous polyposis 9.9
45 atrial fibrillation 9.9
46 inguinal hernia 9.9
47 wolfram syndrome 9.9
48 cystinosis 9.9
49 tetanus 9.9
50 leiomyoma 9.9

Graphical network of the top 20 diseases related to Sarcosinemia:



Diseases related to Sarcosinemia

Symptoms & Phenotypes for Sarcosinemia

Human phenotypes related to Sarcosinemia:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypersarcosinemia 59 32 obligate (100%) Obligate (100%) HP:0010896
2 hypersarcosinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0010897
3 emotional lability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000712
4 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
5 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
6 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
7 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
8 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
9 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
10 abnormality of movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0100022
11 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
12 generalized tonic-clonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002069
13 motor delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001270
14 dyslexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010522
15 pulmonic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001642
16 tetraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002273
17 loss of speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0002371
18 poor speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0002465
19 congenital blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0007875
20 infantile sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008610
21 infantile muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008947
22 peroneal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0011727

Symptoms via clinical synopsis from OMIM:

57
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

MalaCards organs/tissues related to Sarcosinemia:

41
Liver, Prostate, Kidney, Cortex

Publications for Sarcosinemia

Articles related to Sarcosinemia:

(show all 25)
# Title Authors PMID Year
1
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. 38 8 71
22825317 2012
2
sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis. 38 8
1372986 1992
3
Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia. 38 8
6207480 1984
4
Clinical and cellular studies of sarcosinemia. 38 8
5504071 1970
5
Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy. 8
9323574 1997
6
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 8
1937486 1991
7
Sarcosinaemia in a retarded, amaurotic child. 8
2420598 1986
8
Variability in the phenotypic expression of abnormal sarcosine metabolism in a family. 8
6192074 1983
9
[Hypersarcosinemia with sarcosinuria. Study of a new case]. 8
5158355 1971
10
Hypersarcosinemia: an inborn error of metabolism. 8
5936868 1966
11
Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. 9 38
10444331 1999
12
[Molecular clonging of the human dimethyglycine dehydrogenase-like gene (DMGDHL1) from the sarcosinemia critical region at 9q34]. 9 38
10876657 1999
13
The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34. 9 38
8812433 1996
14
Quantitative analysis of sarcosine with special emphasis on biosensors: a review. 38
31050554 2019
15
A Rapid Method for the Detection of Sarcosine Using SPIONs/Au/CS/SOX/NPs for Prostate Cancer Sensing. 38
30467297 2018
16
Evaluation of Oxidative Stress Parameters and Energy Metabolism in Cerebral Cortex of Rats Subjected to Sarcosine Administration. 38
27356917 2017
17
Chemically induced acute model of sarcosinemia in wistar rats. 38
26563127 2016
18
A young adult with sarcosinemia. No benefit from long duration treatment with memantine. 38
23430553 2013
19
[Elevated serum creatinine without discernible kidney disease]. 38
19294604 2009
20
Rare neurodevelopmental abnormalities of sarcosinemia may involve glycinergic stimulation of a primed N-methyl-d-aspartate receptor. 38
17095900 2006
21
Molecular cloning and tissue distribution of rat sarcosine dehydrogenase. 38
9839943 1998
22
[Sarcosinemia associated with folate deficiency]. 38
9590031 1998
23
[Inborn errors of imino acid metabolism]. 38
1404885 1992
24
Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario. 38
1650287 1991
25
A Spanish family with sarcosinemia. 38
4677036 1972

Variations for Sarcosinemia

ClinVar genetic disease variations for Sarcosinemia:

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

UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

74
# 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 SARDH PDP1 DMGDH
2 mitochondrial matrix GO:0005759 8.8 SARDH PDP1 DMGDH

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 SARDH DMGDH
2 choline catabolic process GO:0042426 8.62 SARDH DMGDH

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 SARDH DMGDH

Sources for Sarcosinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....