Preferred Label : Cone-rod dystrophy, X-linked, 1;
Symbol : CORDX1;
CISMeF acronym : COD1; CORDX1;
Type : Phenotype, molecular basis known;
Included titles and symbols : COD1; Cone dystrophy 1, X-linked;
Description : X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting
cone photoreceptors (Demirci et al., 2002). Affected individuals, essentially all
of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal
color vision, full peripheral visual fields, decreased photopic electroretinographic
responses, and granularity of the macular retinal pigment epithelium. The degree of
rod photoreceptor involvement is variable, with increasing degeneration. Although
penetrance appears to be nearly 100%, there is variable expressivity with respect
to age at onset, severity of symptoms, and findings (Hong et al., 1994). - Genetic
Heterogeneity of X-linked Cone-Rod Dystrophy Additional forms of X-linked cone-rod
dystrophy include CORDX2 (300085), which has been mapped to chromosome Xq27.2-q28,
and CORDX3 (300476), which is caused by mutation in the CACNA1F gene (300110) on chromosome
Xp11.23. For a discussion of autosomal forms of cone-rod dystrophy, see CORD2 (120970).;
Inheritance : ? X-linked;
Prefixed ID : #304020;
Origin ID : 304020;
UMLS CUI : C1844776;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
