Cone-Rod Dystrophy 10 (CORD10)

External Ids:

Disease Ontology 12 DOID:0111017 OMIM 56 610283 OMIM Phenotypic Series 56 PS120970 MeSH 43 D058499

MedGen 41 C1846529 SNOMED-CT via HPO 68 193982009 246622003 258211005 28835009 312917007 409668002 418035005 420990001 422338006 65194006 more UMLS 71 C1846529

UniProtKB/Swiss-Prot : ⁷³ Cone-rod dystrophy 10: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

MalaCards based summary : Cone-Rod Dystrophy 10, also known as cord10, is related to retinitis pigmentosa 35 and kallmann syndrome. An important gene associated with Cone-Rod Dystrophy 10 is SEMA4A (Semaphorin 4A), and among its related pathways/superpathways are Semaphorin interactions and Axon guidance. Affiliated tissues include eye and skin, and related phenotypes are rod-cone dystrophy and nyctalopia

Disease Ontology : ¹² A cone-rod dystrophy that has material basis in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22.

More information from OMIM: 610283 PS120970

Clinical features from OMIM:

610283

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 10

Search GEO for disease gene expression data for Cone-Rod Dystrophy 10.