Cone-Rod Dystrophy 10

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OMIM 57 610283 Disease Ontology 12 DOID:0111017 MedGen 42 C1846529

MeSH 44 D058499 SNOMED-CT via HPO 69 258211005 28835009 312917007 422338006 246622003 409668002 65194006 420990001 193982009 418035005 more UMLS 73 C1846529

UniProtKB/Swiss-Prot : ⁷⁵ 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, is also known as cord10. An important gene associated with Cone-Rod Dystrophy 10 is SEMA4A (Semaphorin 4A). Affiliated tissues include skin and eye, and related phenotypes are rod-cone dystrophy and progressive visual loss

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

Description from OMIM: 610283

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.