Clpb Deficiency (MGA7)

Alias:
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia
3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome
3-Methylglutaconic Aciduria Type Vii
Caseinolytic Peptidase B Deficiency
3-Methylglutaconic Aciduria Type 7
Clpb Defect
Megcann
Mgca7
Mga7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Clpb Deficiency, also known as 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, is related to neutropenia, severe congenital, 9, autosomal dominant and neutropenia. An important gene associated with Clpb Deficiency is CLPB (ClpB Family Mitochondrial Disaggregase). Affiliated tissues include kidney and brain.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
4
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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Score
Mutations
No data available

Related Drugs

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Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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