Sarcosinemia - CISMeF

Preferred Label : Sarcosinemia;

Symbol : SARCOS;

CISMeF acronym : SARCOS; SARDHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HYPERSARCOSINEMIA; Sard deficiency; SARDHD; Sarcosine dehydrogenase complex deficiency; Sardh deficiency;

Description : 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).;

Inheritance : Autosomal recessive;

Prefixed ID : #268900;

Details

Origin ID

268900;

UMLS CUI

C0268563;

Automatic exact mappings (from CISMeF team)
- Disorders of glycine metabolism [ICD-10 Sub-category (who)]
- Hypersarcosinemia [PASCAL descriptor]
Currated CISMeF NLP mapping
- Hypersarcosinemia [HPO term]
- Sarcosinaemia [ICD-11 Sub-sub category]
- Sarcosinaemia [MedDRA Preferred Term]
- Sarcosine dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Sarcosinemia [MeSH concept]
- Sarcosinemia [ORDO Disease]
- Sarcosinemia [MedDRA LLT]
- sarcosine dehydrogenase deficiency [SNOMED Notion]
- sarcosinemia [Disease (Nov.)]
- sarcosinemia [MeSH Supplementary Concept]
Genes related to phenotype
- Sarcosine dehydrogenase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hypersarcosinemia [HPO term]
ORDO concept(s)
- Sarcosinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypersarcosinemia [HPO term]
- Sarcosinaemia [MedDRA Preferred Term]
- Sarcosinaemia [ICD-11 Sub-sub category]
- Sarcosine dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Sarcosinemia [MedDRA LLT]
- Sarcosinemia [ORDO Disease]
- Sarcosinemia [MeSH concept]
- sarcosine dehydrogenase deficiency [SNOMED Notion]
- sarcosinemia [MeSH Supplementary Concept]
- sarcosinemia [Disease (Nov.)]
- sarcosinemia [DO Concept]

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