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Sarcosinemia (SARCOS)

Alias:
Sarcosine Dehydrogenase Complex Deficiency
Sardh Deficiency
Sard Deficiency
Sarcos
Hypersarcosinemia
Sardhd
Demethylation Defect of N-Methylglycine
Sarcosine Dehydrogenase Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sarcosinemia, also known as sarcosine dehydrogenase complex deficiency, is related to osteoporosis and bone mineral density quantitative trait locus 8. An important gene associated with Sarcosinemia is SARDH (Sarcosine Dehydrogenase), and among its related pathways/superpathways are One-carbon metabolism and related pathways and superpathway of choline degradation to L-serine. Affiliated tissues include liver and bone, and related phenotypes are hypersarcosinemia and hypersarcosinuria
Related ID：
MALACARDS：SRC015
OMIM：268900
MESH：C537236

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/100000
11
46
10
SRC015

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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