infantile cerebellar-retinal degeneration

Summary
Definition
A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.
Super Class
autosomal recessive disease neurodegenerative disease
External Links
Disease Ontology
DOID:0050883
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
50 ACO2 aconitase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
851013 ACO1 aconitate hydratase ACO1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q99798 Aconitate hydratase, mitochondrial
The Human Phenotype Ontology
Displaying entries 1 - 10 of 25 in total
HPO ID HPO Term
HP:0002079 Hypoplasia of the corpus callosum
HP:0000648 Optic atrophy
HP:0010864 Intellectual disability, severe
HP:0000407 Sensorineural hearing impairment
HP:0003593 Infantile onset
HP:0001272 Cerebellar atrophy
HP:0000252 Microcephaly
HP:0002305 Athetosis
HP:0001252 Hypotonia
HP:0007108 Demyelinating peripheral neuropathy
Displaying 1 entry
Gene ID Gene Symbol Description
50 ACO2 aconitase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024