Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
Behr syndrome
Summary
- Synonym
-
- Abortive cerebellar ataxia (BEHRS)
- BEHRS
- optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
- optic atrophy, infantile hereditary, Behr complicated form of
- Definition
- A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
- Super Class
- autosomal recessive disease nervous system disease
External Links
- Disease Ontology
- DOID:0111580
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60313 | Dynamin-like GTPase OPA1, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000618 | Blindness |
| HP:0000505 | Visual impairment |
| HP:0000648 | Optic atrophy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000639 | Nystagmus |
| HP:0001249 | Intellectual disability |
| HP:0000529 | Progressive visual loss |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0001347 | Hyperreflexia |
| HP:0009830 | Peripheral neuropathy |
