RP85
MCID: RTN219
MIFTS: 18
|
Retinitis Pigmentosa 85 (RP85)
Categories:
Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
|
|
MalaCards integrated aliases for Retinitis Pigmentosa 85:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
based on a report of one family (last curated march 2019) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Ear diseases |
UniProtKB/Swiss-Prot :
73
Retinitis pigmentosa 85: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP85 is an autosomal recessive form manifesting as early-onset progressive difficulty to adapt in dim light and gradually decreasing visual acuity in both eyes.
MalaCards based summary : Retinitis Pigmentosa 85, is also known as rp85. An important gene associated with Retinitis Pigmentosa 85 is AHR (Aryl Hydrocarbon Receptor). Affiliated tissues include retina, and related phenotypes are reduced visual acuity and progressive night blindness Disease Ontology : 12 A retinitis pigmentosa that has material basis in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. |
Human phenotypes related to Retinitis Pigmentosa 85:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618345 (Updated 05-Mar-2021) |
|
MalaCards organs/tissues related to Retinitis Pigmentosa 85:40
Retina
|
Articles related to Retinitis Pigmentosa 85:
|
ClinVar genetic disease variations for Retinitis Pigmentosa 85:6
|
Search
GEO
for disease gene expression data for Retinitis Pigmentosa 85.
|
|
|