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MIRAGE
retinitis pigmentosa 19

Summary
Synonym
  • RP19
Definition
A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22.
Super Class
autosomal recessive disease retinitis pigmentosa
Disease Ontology
DOID:0110354
Mondo Disease Ontology
MeSH
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
24 ABCA4 ATP binding cassette subfamily A member 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
11304 Abca4 ATP-binding cassette, sub-family A member 4
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 28 in total
HPO ID HPO Term
HP:0000035 Abnormal testis morphology
HP:0000135 Hypogonadism
HP:0000405 Conductive hearing impairment
HP:0000407 Sensorineural hearing impairment
HP:0000501 Glaucoma
HP:0000505 Visual impairment
HP:0000512 Abnormal electroretinogram
HP:0000543 Optic disc pallor
HP:0000546 Retinal degeneration
HP:0000563 Keratoconus
Displaying all 7 entries
Gene ID Gene Symbol Description
5158 PDE6B phosphodiesterase 6B
3419 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
762 CA4 carbonic anhydrase 4
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
3420 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 4, 2025