aceruloplasminemia

Summary
Definition
An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
Super Class
autosomal recessive disease inherited metabolic disorder iron metabolism disease
Disease Ontology
DOID:0050711
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1356 CP ceruloplasmin
Displaying 1 entry
Gene ID Gene Symbol Description Source
12870 Cp ceruloplasmin

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024