Retinitis pigmentosa 87 with choroidal involvement

disease

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Also known as RP87

Summary

Retinitis pigmentosa 87 with choroidal involvement (MONDO:0032873) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 63

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 87 with choroidal involvement
Mondo ID	MONDO:0032873
OMIM	618697
UMLS	C5231465
MedGen	1684667
GARD	0016374
Is cancer (heuristic)	no

Also known as: RP87

Data availability: 63 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › retinitis pigmentosa › retinitis pigmentosa 87 with choroidal involvement

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

63 retrieved; paginated sample, class counts are floors:

25 pathogenic, 16 likely pathogenic, 9 uncertain significance, 6 benign, 3 pathogenic/likely pathogenic, 2 likely benign, 2 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
1070055	NM_000329.3(RPE65):c.61del (p.Glu21fs)	RPE65	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1070755	NM_000329.3(RPE65):c.886dup (p.Arg296fs)	RPE65	Pathogenic	reviewed by expert panel
13115	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	RPE65	Pathogenic	reviewed by expert panel
13117	NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	RPE65	Pathogenic	reviewed by expert panel
13118	NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	RPE65	Pathogenic	reviewed by expert panel
1452579	NM_000329.3(RPE65):c.1059dup (p.Lys354fs)	RPE65	Pathogenic	reviewed by expert panel
2013949	NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)	RPE65	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
29870	NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	RPE65	Pathogenic	reviewed by expert panel
29872	NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	RPE65	Pathogenic	reviewed by expert panel
3024118	NM_000329.3(RPE65):c.1336dup (p.Arg446fs)	RPE65	Pathogenic	reviewed by expert panel
3240376	NM_000329.3(RPE65):c.858+1del	RPE65	Pathogenic	criteria provided, multiple submitters, no conflicts
372493	NM_000329.3(RPE65):c.893del (p.Lys298fs)	RPE65	Pathogenic	reviewed by expert panel
374139	NM_000329.3(RPE65):c.1338+1G>A	RPE65	Pathogenic	reviewed by expert panel
437985	NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	RPE65	Pathogenic	reviewed by expert panel
660359	NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	RPE65	Pathogenic	reviewed by expert panel
750796	NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	RPE65	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
829832	NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)	RPE65	Pathogenic	reviewed by expert panel
952461	NM_000329.3(RPE65):c.726-2A>T	RPE65	Pathogenic	reviewed by expert panel
973965	NM_000329.3(RPE65):c.440_441del (p.Thr147fs)	RPE65	Pathogenic	reviewed by expert panel
98825	NM_000329.3(RPE65):c.11+5G>A	RPE65	Pathogenic	reviewed by expert panel
98830	NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	RPE65	Pathogenic	reviewed by expert panel
98857	NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	RPE65	Pathogenic	reviewed by expert panel
98860	NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	RPE65	Pathogenic	reviewed by expert panel
98866	NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	RPE65	Pathogenic	reviewed by expert panel
98873	NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	RPE65	Pathogenic	reviewed by expert panel
98889	NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	RPE65	Pathogenic	reviewed by expert panel
98898	NM_000329.3(RPE65):c.89dup (p.Thr31fs)	RPE65	Pathogenic	reviewed by expert panel
98899	NM_000329.3(RPE65):c.95-2A>T	RPE65	Pathogenic	reviewed by expert panel
1213912	NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)	RPE65	Likely pathogenic	reviewed by expert panel
13116	NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	RPE65	Likely pathogenic	reviewed by expert panel

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 13 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
RPE65	Definitive	Autosomal recessive	retinitis pigmentosa	13

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RPE65	Orphanet:364055	Severe early-childhood-onset retinal dystrophy
RPE65	Orphanet:65	Leber congenital amaurosis
RPE65	Orphanet:791	Retinitis pigmentosa

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RPE65	HGNC:10294	ENSG00000116745	Q16518	Retinoid isomerohydrolase	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RPE65	Retinoid isomerohydrolase	Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Enzyme (other)	1	12.0×	0.083

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RPE65	Enzyme (other)	yes	3.1.1.64	Carotenoid_Oase

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	1
pigmented layer of retina	1
retina	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RPE65	92	tissue_specific	marker	pigmented layer of retina, retina, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RPE65	1,414

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
RPE65	Q16518	95.34

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
The canonical retinoid cycle in rods (twilight vision)	1	519.1×	0.006	RPE65
Visual phototransduction	1	259.6×	0.006	RPE65
Sensory Perception	1	95.2×	0.011	RPE65

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
zeaxanthin biosynthetic process	1	16852.0×	5e-04	RPE65
vitamin A metabolic process	1	2407.4×	0.002	RPE65
retina homeostasis	1	1123.5×	0.002	RPE65
neural retina development	1	936.2×	0.002	RPE65
retinal metabolic process	1	936.2×	0.002	RPE65
detection of light stimulus involved in visual perception	1	648.1×	0.002	RPE65
retinoid metabolic process	1	495.6×	0.003	RPE65
circadian rhythm	1	244.2×	0.005	RPE65
visual perception	1	79.5×	0.013	RPE65

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
RPE65	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
RPE65	3.1.1.64, 5.3.3.22	retinoid isomerohydrolase, lutein isomerase

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	RPE65
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
RPE65	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: RPE65