retinitis pigmentosa 90

Summary
Synonym
  • RP90
Definition
A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1.
Super Class
autosomal recessive disease retinitis pigmentosa
External Links
Disease Ontology
DOID:0112147
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3419 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
854303 IDH2 isocitrate dehydrogenase (NAD(+)) IDH2
The Human Phenotype Ontology
Displaying entries 11 - 20 of 37 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 6 entries
Gene ID Gene Symbol Description
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
3419 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
3420 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
762 CA4 carbonic anhydrase 4
79947 DHDDS dehydrodolichyl diphosphate synthase subunit

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Acknowledgements

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


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Last updated: August 19, 2024