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Leber congenital amaurosis 8

Summary
Synonym
  • LCA8
Definition
A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32.
Super Class
Leber congenital amaurosis autosomal recessive disease
Disease Ontology
DOID:0110079
Mondo Disease Ontology
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23418 CRB1 crumbs cell polarity complex component 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
170788 Crb1 crumbs family member 1, photoreceptor morphogenesis associated
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P82279 Protein crumbs homolog 1
Displaying 1 entry
UniProt ID Protein Name Source
Q8VHS2 Protein crumbs homolog 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0001250 Seizure
HP:0012795 Abnormal optic disc morphology
HP:0000563 Keratoconus
HP:0002269 Abnormality of neuronal migration
HP:0000512 Abnormal electroretinogram
HP:0001263 Global developmental delay
HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis
HP:0001141 Severely reduced visual acuity
HP:0000365 Hearing impairment
HP:0001252 Hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
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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: April 7, 2025