Retinitis Pigmentosa-12, Autosomal Recessive malady
Categories: Genetic diseases, Rare diseases, Eye diseases
Aliases & Descriptions for Retinitis Pigmentosa-12, Autosomal Recessive:
retinitis pigmentosa-12, autosomal recessive:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
UniProtKB/Swiss-Prot:69 Retinitis pigmentosa 12: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia.
MalaCards based summary: Retinitis Pigmentosa-12, Autosomal Recessive, also known as retinitis pigmentosa 12, is related to crb1-related retinitis pigmentosa, and has symptoms including rod-cone dystrophy An important gene associated with Retinitis Pigmentosa-12, Autosomal Recessive is CRB1 (Crumbs 1, Cell Polarity Complex Component). Affiliated tissues include eye.
Disease Ontology:11 A retinitis pigmentosa that has material basis in mutation in the CRB1 gene on chromosome 1q31.3.
Description from OMIM:51 600105
Genetic tests related to Retinitis Pigmentosa-12, Autosomal Recessive:
MalaCards organs/tissues related to Retinitis Pigmentosa-12, Autosomal Recessive:35
UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa-12, Autosomal Recessive:69 (show all 36)
Clinvar genetic disease variations for Retinitis Pigmentosa-12, Autosomal Recessive:5 (show all 14)
Search GEO for disease gene expression data for Retinitis Pigmentosa-12, Autosomal Recessive.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet