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MIRAGE
retinitis pigmentosa 4

Summary
Synonym
  • RP4
Definition
A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22.
Super Class
autosomal dominant disease autosomal recessive disease retinitis pigmentosa
Disease Ontology
DOID:0110372
Mondo Disease Ontology
MeSH
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6010 RHO rhodopsin
Displaying 1 entry
Gene ID Gene Symbol Description Source
212541 Rho rhodopsin
Displaying 1 entry
Gene ID Gene Symbol Description Source
42367 ninaE neither inactivation nor afterpotential E
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P08100 Rhodopsin
Displaying 1 entry
UniProt ID Protein Name Source
P15409 Rhodopsin
Displaying 1 entry
UniProt ID Protein Name Source
P06002 Opsin Rh1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 28 in total
HPO ID HPO Term
HP:0000602 Ophthalmoplegia
HP:0000613 Photophobia
HP:0000618 Blindness
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000662 Nyctalopia
HP:0000842 Hyperinsulinemia
HP:0001249 Intellectual disability
HP:0001347 Hyperreflexia
HP:0001513 Obesity
Displaying all 7 entries
Gene ID Gene Symbol Description
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
3419 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
5158 PDE6B phosphodiesterase 6B
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
3420 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
762 CA4 carbonic anhydrase 4
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025