3-Methylglutaconic Aciduria, Type Viib (MGCA7B)

Alias:
3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia
Megcann
Mgca7b
Mgca7
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia, Autosomal Recessive
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia
3-Methylglutaconic Aciduria, Type Viib, Autosomal Recessive
3-Methylglutaconic Aciduria, Type Vii
3-Methylglutaconic Aciduria Type 7b
3-Methylglutaconic Aciduria 7b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
3-Methylglutaconic Aciduria, Type Viib, also known as 3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia, is related to clpb deficiency and 3-methylglutaconic aciduria, type viia. An important gene associated with 3-Methylglutaconic Aciduria, Type Viib is CLPB (ClpB Family Mitochondrial Disaggregase). Affiliated tissues include brain and bone marrow.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
4
14

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
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IF
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