3-methylglutaconic aciduria type 7a

Term ID

DOID:0081133

Synonyms

Definition

A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/34140661/

References

OMIM:619835

Ontology

Human Disease ( DOID:0081133 )

Relationships

is a type of: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia autosomal dominant disease

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia autosomal dominant disease Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models

Citations