Combined Malonic and Methylmalonic Aciduria (CMAMMA)

Alias:
Combined Malonic and Methylmalonic Acidemia
Cmamma
Aciduria, Combined Malonic and Methylmalonic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Combined Malonic and Methylmalonic Aciduria, also known as combined malonic and methylmalonic acidemia, is related to isolated methylmalonic acidemia and methylmalonic acidemia. An important gene associated with Combined Malonic and Methylmalonic Aciduria is ACSF3 (Acyl-CoA Synthetase Family Member 3), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. Affiliated tissues include brain, and related phenotypes are methylmalonic aciduria and dicarboxylic aciduria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
All ages
1-9/100000
16
79
18

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
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