FB2026_02 , released June 18, 2026
Human Disease Model Report: cone-rod dystrophy 12
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General Information
Name
cone-rod dystrophy 12
FlyBase ID
FBhh0000570
Disease Ontology Term
Parent Disease
OMIM
CONE-ROD DYSTROPHY 12; CORD12
Overview

This report describes cone-rod dystrophy 12 (CRD12 or CORD12), which is a subtype of cone-rod dystrophy; both autosomal recessive and autosomal dominant forms of CRD12 have been reported. The human gene implicated in this disease is Prominin 1 (PROM1), which encodes a transmembrane glycoprotein that appears to have multiple roles in cell differentiation and proliferation. PROM1 is also implicated in other diseases associated with retinal degeneration (MIM:604365). See the report for 'retinal disease, PROM1-related' (FBhh0000571) for information on experimental results using Drosophila models of this and related diseases.

Variant(s) implicated in human disease tested (as transgenic human gene, PROM1): the R373C variant form has been introduced into flies; this variant is implicated in three of the diseases associated with PROM1, retinal macular dystrophy 2 (MCDR2), Stargardt disease 4 (STGD4), and cone-rod dystrophy 12 (CRD12).

[updated Jul. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: cone-rod dystrophy
Symptoms and phenotype

Cone-rod dystrophy (CRD or CORD) is among a group of diseases described as hereditary cone disorders (Roosing, et al., 2014; pubmed:24857951).

(FlyBase Curators, 2013-)

In contrast to typical retinitis pigmentosa (RP), which results from the primary loss in rod photoreceptors, later followed by secondary loss in cone photoreceptors, cone-rod dystrophies (CRDs) exhibit the opposite sequence of events. The clinical course of CRDs is generally more severe and rapid than that of RPs, leading to earlier legal blindness and disability. (Hamel, 2007; pubmed:17270046).

(FlyBase Curators, 2013-)

Cone-rod dystrophy characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992; pubmed:1583653). [from MIM:120970; 2017.06.30]

(OMIM, 2013-)
Specific Disease Summary: cone-rod dystrophy 12
OMIM report

[CONE-ROD DYSTROPHY 12; CORD12](https://omim.org/entry/612657)

Human gene(s) implicated

[PROMININ 1; PROM1](https://omim.org/entry/604365)

Symptoms and phenotype
Genetics

Cone-rod dystrophy 12 (CORD12) is caused by homozygous or heterozygous mutation in the PROM1 gene. [from MIM:612657; 2017.06.30]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
cone-rod retinal dystrophy 12
CORD12
CRD12
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Selected Drosophila transgenes
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        RNAi constructs available
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        Selected Drosophila classical alleles
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        References (3)