|
RP84
MCID: RTN218
MIFTS: 20
|
Retinitis Pigmentosa 84 (RP84)
Categories:
Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Retinitis Pigmentosa 84:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
age of onset between 3-4 years onset of blindness between 7-8 years HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Ear diseases |
|
UniProtKB/Swiss-Prot :
73
Retinitis pigmentosa 84: 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. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue.
MalaCards based summary : Retinitis Pigmentosa 84, is also known as rp84. An important gene associated with Retinitis Pigmentosa 84 is DHX38 (DEAH-Box Helicase 38). Related phenotypes are cataract and macular coloboma Disease Ontology : 12 A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has material basis in homozygous or compound heterozygous mutation in DHX38 on chromosome 16q22.2. OMIM® : 57 RP84 is an autosomal recessive, early-onset form of retinitis pigmentosa, with onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7. Some patients retain light perception (Ajmal et al., 2014; Latif et al., 2018). (618220) (Updated 05-Mar-2021) |
Human phenotypes related to Retinitis Pigmentosa 84:31
|
|
|
Articles related to Retinitis Pigmentosa 84:
|
Genes related to Retinitis Pigmentosa 84 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Retinitis Pigmentosa 84:6
UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 84:73
|
|
Search
GEO
for disease gene expression data for Retinitis Pigmentosa 84.
|
|
|
|