IMPG1

Summary

IMPG1 (interphotoreceptor matrix proteoglycan 1, HGNC:6055) is a protein-coding gene on chromosome 6q14.1, encoding Interphotoreceptor matrix proteoglycan 1 (Q17R60). Chondroitin sulfate-, heparin- and hyaluronan-binding protein.

This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 3617 — RefSeq curated summary.

At a glance

• Gene–disease (curated): IMPG1-related dominant retinopathy (Definitive, ClinGen) — +5 more curated relationships
• GWAS associations: 8
• Clinical variants (ClinVar): 812 total — 48 pathogenic, 18 likely-pathogenic
• Phenotypes (HPO): 46
• MANE Select transcript: NM_001563

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6055
Approved symbol	IMPG1
Name	interphotoreceptor matrix proteoglycan 1
Location	6q14.1
Locus type	gene with protein product
Status	Approved
Aliases	IPM150, GP147
Ensembl gene	ENSG00000112706
Ensembl biotype	protein_coding
OMIM	602870
Entrez	3617

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000369950, ENST00000369952, ENST00000369963, ENST00000611179

RefSeq mRNA: 2 — MANE Select: NM_001563 NM_001282368, NM_001563

CCDS: CCDS4985, CCDS75483

Canonical transcript exons

ENST00000369950 — 17 exons

Exon	Start	End
ENSE00000759194	76025194	76025258
ENSE00000759215	76034621	76034787
ENSE00000759216	76041893	76042126
ENSE00001383065	76034315	76034343
ENSE00003471978	76003874	76003950
ENSE00003488401	76002918	76002996
ENSE00003507173	76022116	76022219
ENSE00003533577	76007480	76007500
ENSE00003554581	76005287	76005534
ENSE00003564575	76018718	76018858
ENSE00003567093	76011166	76011224
ENSE00003608855	75930953	75931151
ENSE00003615723	75947314	75947533
ENSE00003656179	75950562	75951094
ENSE00003675969	75923634	75923706
ENSE00003848322	75921114	75922166
ENSE00003851199	76072422	76072662

Expression profiles

Bgee: expression breadth ubiquitous, 155 present calls, max score 79.78.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4119 / max 439.8253, expressed in 6 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
74480	0.2042	5
74479	0.1824	4
74478	0.0212	2
74481	0.0040	2

Top tissues by expression

252 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.78	gold quality
nucleus accumbens	UBERON:0001882	74.30	gold quality
secondary oocyte	CL:0000655	71.08	gold quality
caudate nucleus	UBERON:0001873	69.76	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.47	gold quality
putamen	UBERON:0001874	67.77	gold quality
right hemisphere of cerebellum	UBERON:0014890	66.51	gold quality
Brodmann (1909) area 9	UBERON:0013540	65.71	gold quality
cerebellar hemisphere	UBERON:0002245	64.57	gold quality
cerebellar cortex	UBERON:0002129	64.53	gold quality
right frontal lobe	UBERON:0002810	64.30	gold quality
right lung	UBERON:0002167	64.05	gold quality
prefrontal cortex	UBERON:0000451	63.70	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	63.03	gold quality
body of pancreas	UBERON:0001150	62.65	gold quality
cerebellum	UBERON:0002037	62.56	gold quality
anterior cingulate cortex	UBERON:0009835	62.42	gold quality
metanephros cortex	UBERON:0010533	61.48	gold quality
minor salivary gland	UBERON:0001830	61.13	gold quality
upper lobe of left lung	UBERON:0008952	60.69	gold quality
tibial artery	UBERON:0007610	60.31	gold quality
popliteal artery	UBERON:0002250	60.29	gold quality
frontal cortex	UBERON:0001870	59.95	gold quality
neocortex	UBERON:0001950	59.88	gold quality
upper lobe of lung	UBERON:0008948	59.88	gold quality
aorta	UBERON:0000947	59.00	gold quality
forebrain	UBERON:0001890	58.92	gold quality
brain	UBERON:0000955	58.68	gold quality
central nervous system	UBERON:0001017	58.56	gold quality
left lobe of thyroid gland	UBERON:0001120	58.55	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7316	yes	3489.73
E-GEOD-137537	yes	14.61
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting IMPG1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-4480	99.42	66.02	735
HSA-MIR-196A-3P	99.19	67.34	1204
HSA-MIR-10B-3P	99.04	66.98	988
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-4464	98.95	67.73	820
HSA-MIR-4748	98.95	67.53	810

Literature-anchored findings (GeneRIF, showing 7)

• The gene product of IMPG1 (designated IPM 150) is a member of a group of neuronal proteoglycans and/ or glycoproteins suspected to be essential in retinal adhesion and photoreceptor cell survival. (PMID:10601738)
• A Leu579Pro mutation in the IMPG1 gene may play a causal role in benign concentric annular macular dystrophy (BCAMD). (PMID:14691150)
• Our results indicate that neither EEF1A1 nor IMPG1 could be responsible for RP25 in the studied families due to absence of any pathogenic variants. (PMID:16354621)
• IMPG1 mutations cause both autosomal-dominant and -recessive forms of vitelliform macular dystrophies. (PMID:23993198)
• IMPG1 and IMPG2 are new causal genes of vitelliform dystrophy, involved in 8% of our families. (PMID:25085631)
• Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix. (PMID:29777959)
• Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. (PMID:32817297)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	impg1b	ENSDARG00000074839
danio_rerio	impg1a	ENSDARG00000077187
mus_musculus	Impg1	ENSMUSG00000032343
rattus_norvegicus	Impg1	ENSRNOG00000012479

Paralogs (1): IMPG2 (ENSG00000081148)

Protein

Protein identifiers

Interphotoreceptor matrix proteoglycan 1 — Q17R60 (reviewed: Q17R60)

Alternative names: Interphotoreceptor matrix proteoglycan of 150 kDa, Sialoprotein associated with cones and rods

All UniProt accessions (4): A0A087WYL3, A0A0R4J2E9, Q17R60, Q5JSC4

UniProt curated annotations — full annotation on UniProt →

Function. Chondroitin sulfate-, heparin- and hyaluronan-binding protein. May serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix.

Subcellular location. Cell projection. Cilium. Photoreceptor outer segment. Secreted. Extracellular space. Extracellular matrix. Interphotoreceptor matrix. Photoreceptor inner segment.

Tissue specificity. Expressed in the retina (at protein level). In the retina, specifically expressed by cone and rod photoreceptor cells. Localizes to cone and rod photoreceptor cells surrounding the interphotoreceptor matrix of the retina.

Post-translational modifications. The N-terminus is blocked. Highly glycosylated (N- and O-linked carbohydrates and sialic acid).

Disease relevance. Macular dystrophy, vitelliform, 4 (VMD4) [MIM:616151] A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD4 features include late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, and preservation of retinal pigment epithelium reflectivity. The disease is caused by variants affecting the gene represented in this entry. Retinitis pigmentosa 91 (RP91) [MIM:153870] 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. RP91 is an autosomal dominant form with bone-spicule pigmentation, attenuation of retinal vessels, and optic disk pallor on funduscopy. Patients may also experience early macular involvement, with photophobia and reduced visual acuity, and some show a bull’s eye pattern of macular atrophy. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q17R60-1	1	yes
Q17R60-2	2

RefSeq proteins (2): NP_001269297, NP_001554* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000082	SEA_dom	Domain
IPR000742	EGF	Domain
IPR036364	SEA_dom_sf	Homologous_superfamily
IPR039861	IMPG	Family

Pfam: PF01390

UniProt features (32 total): glycosylation site 12, sequence variant 12, splice variant 3, domain 2, signal peptide 1, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q17R60-F1	59.26	0.13

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (12): 421, 432, 442, 592, 616, 630, 648, 42, 143, 191, 215, 403

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 148 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, CAGCTG_AP4_Q5, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GATA1_04, GOMF_GLYCOSAMINOGLYCAN_BINDING, GOBP_SENSORY_PERCEPTION, GOCC_NEURON_PROJECTION, GOMF_HEPARIN_BINDING, YAGI_AML_WITH_T_9_11_TRANSLOCATION, YAGI_AML_WITH_11Q23_REARRANGED, GOCC_PHOTORECEPTOR_INNER_SEGMENT, GOCC_CILIUM, GOCC_PHOTORECEPTOR_OUTER_SEGMENT, GOMF_SULFUR_COMPOUND_BINDING

GO Biological Process (2): visual perception (GO:0007601), extracellular matrix organization (GO:0030198)

GO Molecular Function (4): extracellular matrix structural constituent (GO:0005201), hyaluronic acid binding (GO:0005540), heparin binding (GO:0008201), chondroitin sulfate binding (GO:0035374)

GO Cellular Component (7): photoreceptor outer segment (GO:0001750), photoreceptor inner segment (GO:0001917), extracellular matrix (GO:0031012), interphotoreceptor matrix (GO:0033165), extracellular region (GO:0005576), cell projection (GO:0042995), cell periphery (GO:0071944)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
glycosaminoglycan binding	2
sulfur compound binding	2
sensory perception of light stimulus	1
extracellular structure organization	1
external encapsulating structure organization	1
structural molecule activity	1
extracellular matrix	1
carboxylic acid binding	1
photoreceptor cell cilium	1
external encapsulating structure	1
specialized extracellular matrix	1

Protein interactions and networks

STRING

684 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IMPG1	ELOVL4	Q9GZR5	978
IMPG1	PRPH2	P23942	874
IMPG1	BEST1	O76090	623
IMPG1	RBP3	P10745	558
IMPG1	RIMS1	Q86UR5	545
IMPG1	C6orf52	Q5T4I8	504
IMPG1	ABCA4	P78363	490
IMPG1	OR4E1	P0C645	471
IMPG1	EYS	Q5T1H1	471
IMPG1	MYO6	Q9UM54	433
IMPG1	KIAA0232	Q92628	423
IMPG1	NBAS	A2RRP1	418
IMPG1	WDR17	Q8IZU2	414
IMPG1	OR51F1	A6NGY5	412
IMPG1	IDUA	P35475	407

IntAct

3 interactions, top by confidence:

A	B	Type	Score
USP49	CETN3	psi-mi:“MI:0914”(association)	0.530
IMPG1	SSX2IP	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (3): SSX2IP (Affinity Capture-MS), IMPG1 (Affinity Capture-MS), IMPG1 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8Y4Y8, A0A2R8YFL7, A0A2R8YFM6, A0A8J1K1A4, A5D791, E7FKV8, O77726, O88393, P20239, P20783, P26342, P35054, P40200, P47984, Q03167, Q05996, Q08DT3, Q17R60, Q2Q0J1, Q3MHP9, Q3U0X8, Q3V1M1, Q4FZG8, Q4V7E2, Q5BK49, Q5SY80, Q5XI99, Q6DFV8, Q6WRH9, Q6WRI0, Q6X784, Q7TST5, Q80VH0, Q86WS3, Q8JIR8, Q8R1W8, Q925U0, Q95KG7, Q9D9J7, Q9ET62

Diamond homologs: O95196, P70628, Q17R60, Q1XI86, Q71M36, Q80XH2, Q8JIR8, Q8R1W8, Q9BZV3, Q9DF69, Q9ERQ6, Q9ET62, Q9GMS5, P28826, Q16820, Q61847

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

812 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	48
Likely pathogenic	18
Uncertain significance	463
Likely benign	212
Benign	24

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1006441	NM_001563.4(IMPG1):c.1038del (p.Glu347fs)	Pathogenic
1006820	NM_001563.4(IMPG1):c.913dup (p.Thr305fs)	Pathogenic
1018733	NM_001563.4(IMPG1):c.1434del (p.Leu479fs)	Pathogenic
1045928	NM_001563.4(IMPG1):c.1711C>T (p.Arg571Ter)	Pathogenic
1052891	NM_001563.4(IMPG1):c.1253del (p.Gln418fs)	Pathogenic
1063147	NM_001563.4(IMPG1):c.391C>T (p.Gln131Ter)	Pathogenic
1240016	NM_001563.4(IMPG1):c.807+5G>A	Pathogenic
1240019	NM_001563.4(IMPG1):c.960T>A (p.Ser320Arg)	Pathogenic
1275815	NM_001563.4(IMPG1):c.151dup (p.Met51fs)	Pathogenic
1352556	NM_001563.4(IMPG1):c.672del (p.Glu225fs)	Pathogenic
1369558	NM_001563.4(IMPG1):c.1384C>T (p.Gln462Ter)	Pathogenic
1373615	NM_001563.4(IMPG1):c.335del (p.Ile112fs)	Pathogenic
1392193	NM_001563.4(IMPG1):c.291T>G (p.Tyr97Ter)	Pathogenic
1427314	NM_001563.4(IMPG1):c.321G>A (p.Trp107Ter)	Pathogenic
1509137	NM_001563.4(IMPG1):c.807+2T>A	Pathogenic
1509882	NM_001563.4(IMPG1):c.1634_1638dup (p.Leu547fs)	Pathogenic
1517759	NM_001563.4(IMPG1):c.1513_1514insCAGATCAGATG (p.Asp505fs)	Pathogenic
162133	NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg)	Pathogenic
162134	NM_001563.4(IMPG1):c.807+1G>T	Pathogenic
162135	NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter)	Pathogenic
1916774	NM_001563.4(IMPG1):c.1840C>T (p.Arg614Ter)	Pathogenic
1933145	NM_001563.4(IMPG1):c.1561G>T (p.Glu521Ter)	Pathogenic
1950114	NM_001563.4(IMPG1):c.421G>T (p.Gly141Ter)	Pathogenic
1950429	NM_001563.4(IMPG1):c.360_361del (p.Glu122fs)	Pathogenic
1955146	NM_001563.4(IMPG1):c.640_643dup (p.Asn215fs)	Pathogenic
1976237	NM_001563.4(IMPG1):c.1543_1544dup (p.Met515fs)	Pathogenic
2010524	NM_001563.4(IMPG1):c.52del (p.Val18fs)	Pathogenic
2044058	NM_001563.4(IMPG1):c.1350_1353del (p.Phe450fs)	Pathogenic
2111573	NM_001563.4(IMPG1):c.98_102del (p.Thr33fs)	Pathogenic
2116048	NM_001563.4(IMPG1):c.1388del (p.Gly463fs)	Pathogenic

SpliceAI

2720 predictions. Top by Δscore:

Variant	Effect	Δscore
6:75930989:T:A	donor_gain	1.0000
6:75947530:CCAG:C	acceptor_gain	1.0000
6:75947531:CAGC:C	acceptor_gain	1.0000
6:76003011:T:C	acceptor_gain	1.0000
6:76003011:T:TC	acceptor_gain	1.0000
6:76003869:CTTA:C	donor_loss	1.0000
6:76003870:TTA:T	donor_loss	1.0000
6:76003871:TA:T	donor_loss	1.0000
6:76003872:A:C	donor_loss	1.0000
6:76003873:CCT:C	donor_gain	1.0000
6:76003948:TTT:T	acceptor_gain	1.0000
6:76003951:C:CC	acceptor_gain	1.0000
6:76005328:T:TA	donor_gain	1.0000
6:76005436:T:C	acceptor_gain	1.0000
6:76005436:T:TC	acceptor_gain	1.0000
6:76005439:T:TC	acceptor_gain	1.0000
6:76007528:A:C	acceptor_gain	1.0000
6:76018713:CTCA:C	donor_loss	1.0000
6:76018714:TCA:T	donor_loss	1.0000
6:76018715:CA:C	donor_loss	1.0000
6:76018716:A:AC	donor_gain	1.0000
6:76018717:C:A	donor_loss	1.0000
6:76018717:C:CC	donor_gain	1.0000
6:76018854:CTTTC:C	acceptor_gain	1.0000
6:76018855:TTTC:T	acceptor_gain	1.0000
6:76018856:TTC:T	acceptor_gain	1.0000
6:76018857:TC:T	acceptor_gain	1.0000
6:76018858:CC:C	acceptor_gain	1.0000
6:76018859:C:A	acceptor_loss	1.0000
6:76018860:T:C	acceptor_loss	1.0000

AlphaMissense

5278 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:75947475:A:G	F628S	0.996
6:75950628:G:C	F586L	0.995
6:75950628:G:T	F586L	0.995
6:75950630:A:G	F586L	0.995
6:76034658:A:G	F144S	0.994
6:76034742:C:G	R116P	0.994
6:76034768:C:A	W107C	0.994
6:76034768:C:G	W107C	0.994
6:75947447:G:C	S637R	0.993
6:75947447:G:T	S637R	0.993
6:75947449:T:G	S637R	0.993
6:75947474:G:C	F628L	0.993
6:75947474:G:T	F628L	0.993
6:75947476:A:G	F628L	0.993
6:75947475:A:C	F628C	0.992
6:76034750:A:C	F113L	0.992
6:76034750:A:T	F113L	0.992
6:76034752:A:G	F113L	0.992
6:76034701:A:G	C130R	0.991
6:76034785:A:G	C102R	0.991
6:75947498:A:C	F620L	0.990
6:75947498:A:T	F620L	0.990
6:75947500:A:G	F620L	0.990
6:76034658:A:C	F144C	0.990
6:76034711:C:A	W126C	0.990
6:76034711:C:G	W126C	0.990
6:76034783:A:C	C102W	0.990
6:76034699:G:C	C130W	0.989
6:76034657:G:C	F144L	0.988
6:76034657:G:T	F144L	0.988

dbSNP variants (sampled 300 via entrez): RS1000003554 (6:75937574 A>G), RS1000018089 (6:76033107 T>C), RS1000025903 (6:75953089 C>T), RS1000052807 (6:76026916 C>A,T), RS1000078961 (6:76027010 C>T), RS1000084543 (6:75986579 G>A), RS1000084858 (6:76031312 G>A), RS1000086140 (6:75985431 T>G), RS1000099010 (6:76066063 A>G), RS1000101334 (6:76072369 A>G,T), RS1000126328 (6:76073906 T>G), RS1000159384 (6:76032405 G>C,T), RS1000164392 (6:75937468 T>C), RS1000177988 (6:76002031 A>G), RS1000193875 (6:76067894 A>G)

Disease associations

OMIM: gene MIM:602870 | disease phenotypes: MIM:153870, MIM:616151, MIM:153840, MIM:268000, MIM:616152, MIM:120970, MIM:153700

GenCC curated gene-disease

Disease	Classification	Inheritance
vitelliform macular dystrophy 4	Definitive	Autosomal dominant
inherited retinal dystrophy	Strong	Semidominant
retinitis pigmentosa	Moderate	Autosomal dominant
adult-onset foveomacular vitelliform dystrophy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
IMPG1-related dominant retinopathy	Definitive	AD
IMPG1-related recessive retinopathy	Definitive	AR

Mondo (10): benign concentric annular macular dystrophy (MONDO:0007934), inherited retinal dystrophy (MONDO:0019118), vitelliform macular dystrophy 4 (MONDO:0014508), vitelliform macular dystrophy 1 (MONDO:0007933), retinitis pigmentosa (MONDO:0019200), vitelliform macular dystrophy 5 (MONDO:0014509), cone-rod dystrophy (MONDO:0015993), isolated macular dystrophy (MONDO:0957048), vitelliform macular dystrophy 2 (MONDO:0007931), adult-onset foveomacular vitelliform dystrophy (MONDO:0011979)

Orphanet (7): Benign concentric annular macular dystrophy (Orphanet:251287), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Adult-onset foveomacular vitelliform dystrophy (Orphanet:99000), Retinitis pigmentosa (Orphanet:791), Cone rod dystrophy (Orphanet:1872), OBSOLETE: Isolated macular dystrophy (Orphanet:519302), Best vitelliform macular dystrophy (Orphanet:1243)

HPO phenotypes

46 total (30 of 46 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000478	Abnormality of the eye
HP:0000501	Glaucoma
HP:0000504	Abnormality of vision
HP:0000505	Visual impairment
HP:0000512	Abnormal electroretinogram
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001123	Visual field defect
HP:0001139	Chorioretinal scalloped atrophy
HP:0003581	Adult onset
HP:0007641	Dyschromatopsia
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007677	Vitelliform macular lesion
HP:0007703	Abnormal retinal pigmentation
HP:0007730	Iris hypopigmentation
HP:0007737	Spicular pigmentation of the retina

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002541_24	Menarche (age at onset)	6.000000e-09
GCST003487_13	Response to fenofibrate (total cholesterol levels)	7.000000e-06
GCST004250_53	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	5.000000e-06
GCST005171_44	QT interval	7.000000e-07
GCST006192_41	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	5.000000e-08
GCST006658_4	Longevity	4.000000e-06
GCST012041_3	Sleep activity levels	2.000000e-10
GCST012227_19	Hip circumference adjusted for BMI	2.000000e-08

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004703	age at menarche
EFO:0007806	total cholesterol change measurement
EFO:0007965	response to combination chemotherapy
EFO:0004682	QT interval
EFO:0006335	systolic blood pressure
EFO:0006527	smoking status measurement
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C537832	Macular dystrophy, atypical vitelliform (supp.)
C537833	Macular dystrophy, concentric annular (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	2
trichostatin A	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
belinostat	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Vorinostat	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Mercury	increases expression	1
Tetrachlorodibenzodioxin	decreases expression	1

Clinical trials (associated diseases)

260 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)