Details of Disease

General Information of Disease (ID: DISVUJ9N)

Disease Name Sarcosinemia
Synonyms SARD deficiency; hypersarcosinemia; sarcosine dehydrogenase complex deficiency; SARDH deficiency; SARCOS; sarcosinemia
Definition Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.
Disease Hierarchy
DISYZ4CU: Disorder of methylamine metabolism
DISNPKSV: Inborn disorder of serine family metabolism
DISGK8HL: Glycine metabolism disease
DISVUJ9N: Sarcosinemia
Disease Identifiers
MONDO ID
MONDO_0010008
MESH ID
C537236
UMLS CUI
C0268563
OMIM ID
268900
MedGen ID
120651
HPO ID
HP:0010896
Orphanet ID
3129
SNOMED CT ID
64852002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SARDH OTQ49Q27 Supportive Autosomal recessive [1]
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References

1 Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. Hum Genet. 2012 Nov;131(11):1805-10. doi: 10.1007/s00439-012-1207-x. Epub 2012 Jul 24.