CRDHL2
MCID: CNR041
MIFTS: 18
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Cone-Rod Dystrophy and Hearing Loss 2 (CRDHL2)
Categories:
Ear diseases, Eye diseases, Genetic diseases
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MalaCards integrated aliases for Cone-Rod Dystrophy and Hearing Loss 2:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 2 japanese sisters (last curated march 2019) HPO:32Classifications: |
UniProtKB/Swiss-Prot
:
74
Cone-rod dystrophy and hearing loss 2: An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone- rod dystrophy is 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 and Hearing Loss 2, is also known as crdhl2. An important gene associated with Cone-Rod Dystrophy and Hearing Loss 2 is CEP250 (Centrosomal Protein 250). Related phenotypes are sensorineural hearing impairment and photophobia OMIM : 57 Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss (Kubota et al., 2018). For a discussion of genetic heterogeneity of cone-rod dystrophy and hearing loss, see CRDHL1 (617236). (618358) |
Human phenotypes related to Cone-Rod Dystrophy and Hearing Loss 2:32
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:618358 |
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Articles related to Cone-Rod Dystrophy and Hearing Loss 2:
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ClinVar genetic disease variations for Cone-Rod Dystrophy and Hearing Loss 2:6
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Search
GEO
for disease gene expression data for Cone-Rod Dystrophy and Hearing Loss 2.
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