3-Methylglutaconic Aciduria, Type Iv (MGCA4)

Alias:
3-Methylglutaconic Aciduria Type 4
Mga4
3-Methylglutaconic Aciduria Type Iv
Mgca4
Mga, Type Iv
Mga Type Iv
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
3-Methylglutaconic Aciduria, Type Iv, also known as 3-methylglutaconic aciduria type 4, is related to 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome and mitochondrial dna depletion syndrome 4a. An important gene associated with 3-Methylglutaconic Aciduria, Type Iv is SERAC1 (Serine Active Site Containing 1). Affiliated tissues include eye and liver, and related phenotypes are intellectual disability and seizure
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
12
77
3

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

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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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