CFAP418

Summary

CFAP418 (cilia and flagella associated protein 418, HGNC:27232) is a protein-coding gene on chromosome 8q22.1, encoding Cilia- and flagella-associated protein 418 (Q96NL8). May be involved in photoreceptor outer segment disk morphogenesis.

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP).

Source: NCBI Gene 157657 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliopathy (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 263 total — 15 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 139
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_177965

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27232
Approved symbol	CFAP418
Name	cilia and flagella associated protein 418
Location	8q22.1
Locus type	gene with protein product
Status	Approved
Aliases	MOT25, FLJ30600, CORD16, RP64, BBS21, FAP418, SMALLTALK
Ensembl gene	ENSG00000156172
Ensembl biotype	protein_coding
OMIM	614477
Entrez	157657

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000286688, ENST00000945329

RefSeq mRNA: 2 — MANE Select: NM_177965 NM_001363260, NM_177965

CCDS: CCDS6268

Canonical transcript exons

ENST00000286688 — 6 exons

Exon	Start	End
ENSE00001024972	95263687	95263774
ENSE00001024973	95260468	95260532
ENSE00001088782	95259840	95259905
ENSE00001088784	95252188	95252283
ENSE00001273587	95244913	95247770
ENSE00001294635	95269035	95269201

Expression profiles

Bgee: expression breadth ubiquitous, 201 present calls, max score 84.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.9874 / max 48.4918, expressed in 1361 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
94010	1.5135	862
94012	1.2271	714
94011	0.2467	129

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	84.02	gold quality
oviduct epithelium	UBERON:0004804	83.60	gold quality
buccal mucosa cell	CL:0002336	81.51	gold quality
mucosa of paranasal sinus	UBERON:0005030	80.57	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.46	gold quality
bronchial epithelial cell	CL:0002328	79.55	gold quality
epithelium of nasopharynx	UBERON:0001951	79.49	silver quality
bronchus	UBERON:0002185	78.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.24	gold quality
cardiac muscle of right atrium	UBERON:0003379	77.16	gold quality
germinal epithelium of ovary	UBERON:0001304	76.84	gold quality
ventricular zone	UBERON:0003053	76.74	gold quality
pigmented layer of retina	UBERON:0001782	73.85	gold quality
retina	UBERON:0000966	73.83	gold quality
oocyte	CL:0000023	73.58	gold quality
kidney epithelium	UBERON:0004819	72.80	gold quality
fallopian tube	UBERON:0003889	72.40	gold quality
caput epididymis	UBERON:0004358	72.21	gold quality
calcaneal tendon	UBERON:0003701	72.14	gold quality
islet of Langerhans	UBERON:0000006	71.57	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	71.30	gold quality
ganglionic eminence	UBERON:0004023	71.24	gold quality
smooth muscle tissue	UBERON:0001135	70.74	gold quality
corpus epididymis	UBERON:0004359	70.54	gold quality
gingival epithelium	UBERON:0001949	70.44	gold quality
deltoid	UBERON:0001476	70.32	silver quality
ovary	UBERON:0000992	70.18	gold quality
right uterine tube	UBERON:0001302	69.65	gold quality
left ovary	UBERON:0002119	69.24	gold quality
tibia	UBERON:0000979	69.12	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

116 targeting CFAP418, 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-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-95-5P	99.89	72.17	3973

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 9)

• In a ciliary-expressed gene (C8orf37), mutations were identified that are associated with autosomal recessive cone-rod dystrophy and retinitis pigmentosa with early macular involvement. (PMID:22177090)
• Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive cone rod dystrophy or retinitis pigmentosa phenotype with early macular atrophy. (PMID:23788369)
• Our study identified two novel truncating mutations of the C8orf37 gene in siblings with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. (PMID:25113443)
• Novel C8orf37 mutations cause retinitis pigmentosa in two consanguineous families of Pakistani origin. (PMID:25802487)
• We conclude that C8orf37 should be added to Bardet-Biedl syndrome (BBS) screening panels as a probable rare cause of the disease and that individuals with C8orf37-related retinal dystrophy should be screened for BBS features. (PMID:26854863)
• This report extends the genotypic spectrum of C8orf37-associated retinal dystrophies and demonstrates for the first time a genotype-phenotype correlation between an arCRD-polydactyly-association and truncating germline mutations affecting the N-terminal region of the protein. (PMID:26865426)
• This is the first functional validation and association of C8ORF37 mutations with the BBS phenotype, which identifies BBS21. The zebrafish studies hereby show that C8ORF37 variants underlie clinically diagnosed BBS-related phenotypes as well as isolated retinal degeneration (PMID:27008867)
• Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival. (PMID:36233334)
• Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations. (PMID:37971880)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cfap418	ENSMUSG00000059482
rattus_norvegicus	Cfap418	ENSRNOG00000026672

Protein

Protein identifiers

Cilia- and flagella-associated protein 418 — Q96NL8 (reviewed: Q96NL8)

All UniProt accessions (1): Q96NL8

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in photoreceptor outer segment disk morphogenesis.

Subunit / interactions. Interacts (via N-terminus) with FAM161A (via central region); the interaction is direct.

Subcellular location. Cytoplasm. Photoreceptor inner segment.

Tissue specificity. Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level).

Disease relevance. Cone-rod dystrophy 16 (CORD16) [MIM:614500] An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry. Retinitis pigmentosa 64 (RP64) [MIM:614500] 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. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry. Bardet-Biedl syndrome 21 (BBS21) [MIM:617406] A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (2): NP_001350189, NP_808880* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029239	CFAP418	Family

Pfam: PF14996

UniProt features (7 total): sequence variant 3, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96NL8-F1	75.73	0.42

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 403 (showing top): GOBP_NEUROGENESIS, GOBP_PHOTORECEPTOR_CELL_DEVELOPMENT, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, NIKOLSKY_BREAST_CANCER_8Q12_Q22_AMPLICON, chr8q22, GOBP_PHOTORECEPTOR_CELL_DIFFERENTIATION, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, MARSON_BOUND_BY_FOXP3_STIMULATED, GOCC_CILIARY_BASE, GOCC_PHOTORECEPTOR_INNER_SEGMENT, GOCC_CILIUM, BARX1_TARGET_GENES, BRF1_TARGET_GENES, CHAF1B_TARGET_GENES, DYRK1A_TARGET_GENES

GO Biological Process (1): photoreceptor cell morphogenesis (GO:0008594)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): photoreceptor inner segment (GO:0001917), cytoplasm (GO:0005737), ciliary base (GO:0097546)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
photoreceptor cell development	1
cell morphogenesis involved in neuron differentiation	1
binding	1
intracellular anatomical structure	1
cilium	1
ciliary transition zone	1
ciliary transition fiber	1

Protein interactions and networks

STRING

578 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP418	TTC8	Q8TAM2	757
CFAP418	TULP1	O00294	711
CFAP418	CERKL	Q49MI3	676
CFAP418	POC1B	Q8TC44	666
CFAP418	RP1L1	Q8IWN7	661
CFAP418	CDHR1	Q96JP9	657
CFAP418	IFT172	Q9UG01	643
CFAP418	RAB28	P51157	619
CFAP418	OFD1	O75665	617
CFAP418	BBS2	Q9BXC9	611
CFAP418	RPGRIP1	Q96KN7	611
CFAP418	BBS1	Q8NFJ9	610
CFAP418	WDPCP	O95876	609
CFAP418	BBS10	Q8TAM1	608
CFAP418	BBS5	Q8N3I7	602

IntAct

41 interactions, top by confidence:

A	B	Type	Score
CFAP418		psi-mi:“MI:0915”(physical association)	0.560
CFAP418	CAPNS1	psi-mi:“MI:0915”(physical association)	0.530
XPNPEP3	SEC16A	psi-mi:“MI:0914”(association)	0.510
FAM161A	CFAP418	psi-mi:“MI:0915”(physical association)	0.500
FAM161A	CFAP418	psi-mi:“MI:2364”(proximity)	0.500
FAM161A	CFAP418	psi-mi:“MI:0403”(colocalization)	0.500
THOC5	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
CASP8AP2	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
CHD3	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
CRX	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
DAXX	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
HIPK2	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
HSF2	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
MRPS6	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
PLEC	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
PTK2B	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
RNF111	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
SYNCRIP	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
ZNF106	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
SRC	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
ANKRD11	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
RBFOX1	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
NPL	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
TXNRD2	CFAP418	psi-mi:“MI:0915”(physical association)	0.370
DDX17	CFAP418	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (16): C8orf37 (Affinity Capture-MS), CAPNS1 (Affinity Capture-MS), CST6 (Affinity Capture-MS), C8orf37 (Affinity Capture-MS), C8orf37 (Affinity Capture-MS), C8orf37 (Co-fractionation), C8orf37 (Affinity Capture-MS), C8orf37 (Proximity Label-MS), C8orf37 (Proximity Label-MS), C8orf37 (Proximity Label-MS), C8orf37 (Proximity Label-MS), C8orf37 (Proximity Label-MS), C8orf37 (Proximity Label-MS), C8orf37 (Proximity Label-MS), C8orf37 (Proximity Label-MS)

ESM2 similar proteins: A0A1P8ARG1, A2APA5, A2YX04, C0SUT9, E1BC52, E9Q555, O14279, P07106, P0DOC8, P85107, Q0VFP3, Q12912, Q29RJ0, Q3KR53, Q3UJP5, Q4V7T5, Q53WJ1, Q5R7V3, Q5R9C3, Q5XG73, Q63HQ0, Q65Z40, Q6AY71, Q6DD19, Q6GP48, Q6NPP4, Q6NZP2, Q6PAV5, Q6PI47, Q6PUA2, Q6Z8M8, Q700C2, Q75LH6, Q7Z5K2, Q8RY95, Q923W1, Q93ZB7, Q94CK6, Q96NL8, Q96RS0

Diamond homologs: E1BC52, P0DOC8, Q3UJP5, Q6AY71, Q96NL8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	15
Likely pathogenic	5
Uncertain significance	131
Likely benign	65
Benign	8

Top pathogenic / likely-pathogenic (20)

Variant ID	HGVS	Classification
1681127	NM_177965.4(CFAP418):c.349_353del (p.Gly117fs)	Pathogenic
1681132	NM_177965.4(CFAP418):c.298dup (p.Leu100fs)	Pathogenic
1681150	NM_177965.4(CFAP418):c.104del (p.Gly35fs)	Pathogenic
1681151	NM_177965.4(CFAP418):c.89_99del (p.Pro30fs)	Pathogenic
1681158	NM_177965.4(CFAP418):c.19G>T (p.Glu7Ter)	Pathogenic
2089115	NM_177965.4(CFAP418):c.187_188insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGGCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGATGATC (p.Asp62_Leu63insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysGluAspAsp)	Pathogenic
31192	NM_177965.4(CFAP418):c.497T>A (p.Leu166Ter)	Pathogenic
31193	NM_177965.4(CFAP418):c.156-2A>G	Pathogenic
31195	NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg)	Pathogenic
3237158	NM_177965.4(CFAP418):c.440G>A (p.Trp147Ter)	Pathogenic
417789	NM_177965.4(CFAP418):c.304A>T (p.Lys102Ter)	Pathogenic
4774335	NM_177965.4(CFAP418):c.484del (p.Glu162fs)	Pathogenic
631535	NM_177965.4(CFAP418):c.16_19del (p.Asp6fs)	Pathogenic
930729	NM_177965.4(CFAP418):c.363del (p.Asn121fs)	Pathogenic
956772	NM_177965.4(CFAP418):c.177dup (p.Glu60fs)	Pathogenic
3345409	NM_177965.4(CFAP418):c.172_173delinsC (p.Lys58fs)	Likely pathogenic
3381781	NM_177965.4(CFAP418):c.374+1G>A	Likely pathogenic
4293958	NM_177965.4(CFAP418):c.536_537dup (p.Ala180fs)	Likely pathogenic
684431	NM_177965.4(CFAP418):c.240del (p.Ser81fs)	Likely pathogenic
684432	NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter)	Likely pathogenic

SpliceAI

919 predictions. Top by Δscore:

Variant	Effect	Δscore
8:95259939:T:C	acceptor_gain	1.0000
8:95259939:T:TC	acceptor_gain	1.0000
8:95260463:CTTA:C	donor_loss	1.0000
8:95260465:TACCT:T	donor_loss	1.0000
8:95260530:TTT:T	acceptor_gain	1.0000
8:95263681:ACTT:A	donor_loss	1.0000
8:95263685:A:AC	donor_gain	1.0000
8:95263686:C:CA	donor_gain	1.0000
8:95263686:C:G	donor_loss	1.0000
8:95263686:CA:C	donor_gain	1.0000
8:95263686:CAG:C	donor_gain	1.0000
8:95263686:CAGA:C	donor_gain	1.0000
8:95263686:CAGAG:C	donor_gain	1.0000
8:95252183:CATA:C	donor_loss	0.9900
8:95252184:ATAC:A	donor_loss	0.9900
8:95252185:TACC:T	donor_loss	0.9900
8:95252186:ACCTG:A	donor_loss	0.9900
8:95252187:C:G	donor_loss	0.9900
8:95259906:C:CC	acceptor_gain	0.9900
8:95259912:G:C	acceptor_gain	0.9900
8:95259923:A:C	acceptor_gain	0.9900
8:95259933:A:C	acceptor_gain	0.9900
8:95260531:TT:T	acceptor_gain	0.9900
8:95260531:TTCTG:T	acceptor_loss	0.9900
8:95260533:C:CA	acceptor_loss	0.9900
8:95260533:C:CC	acceptor_gain	0.9900
8:95260536:T:TC	acceptor_gain	0.9900
8:95263680:GACTT:G	donor_loss	0.9900
8:95263770:TTGAT:T	acceptor_gain	0.9900
8:95263775:C:CC	acceptor_gain	0.9900

AlphaMissense

1377 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:95247637:A:G	W202R	0.997
8:95247637:A:T	W202R	0.997
8:95252217:C:A	W147C	0.997
8:95252217:C:G	W147C	0.997
8:95252219:A:G	W147R	0.997
8:95252219:A:T	W147R	0.997
8:95252188:C:G	R157T	0.995
8:95247635:C:A	W202C	0.994
8:95247635:C:G	W202C	0.994
8:95247770:C:A	R157S	0.994
8:95247770:C:G	R157S	0.994
8:95252188:C:A	R157M	0.994
8:95252218:C:G	W147S	0.993
8:95252264:A:G	C132R	0.993
8:95247702:G:T	A180D	0.990
8:95247703:C:G	A180P	0.990
8:95247708:G:T	A178E	0.990
8:95252254:C:G	C135S	0.989
8:95252254:C:T	C135Y	0.989
8:95252255:A:G	C135R	0.989
8:95252255:A:T	C135S	0.989
8:95247693:C:G	C183S	0.988
8:95247694:A:T	C183S	0.988
8:95247700:A:G	C181R	0.988
8:95252263:C:G	C132S	0.988
8:95252264:A:T	C132S	0.988
8:95247711:C:G	R177P	0.987
8:95252262:A:C	C132W	0.987
8:95247636:C:G	W202S	0.986
8:95247694:A:G	C183R	0.986

dbSNP variants (sampled 300 via entrez): RS1000102697 (8:95266323 A>G,T), RS1000121186 (8:95251921 G>A), RS1000170464 (8:95245747 AT>A,ATT), RS1000405709 (8:95251769 A>G), RS1000566622 (8:95265159 G>C,T), RS1000631551 (8:95258012 T>C), RS1000685468 (8:95264542 A>C), RS1000733061 (8:95265008 C>A), RS1000919676 (8:95264871 T>C), RS1001136437 (8:95250703 T>C), RS1001137656 (8:95265907 C>T), RS1001150379 (8:95269734 ACTACTGG>A), RS1001344092 (8:95258965 T>C), RS1001408465 (8:95251362 G>C), RS1001514151 (8:95252073 A>G)

Disease associations

OMIM: gene MIM:614477 | disease phenotypes: MIM:614500, MIM:268000, MIM:617406

GenCC curated gene-disease

Disease	Classification	Inheritance
cone-rod dystrophy 16	Definitive	Autosomal recessive
bardet-biedl syndrome 21	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
ciliopathy	Definitive	AR

Mondo (5): cone-rod dystrophy 16 (MONDO:0013786), retinitis pigmentosa (MONDO:0019200), bardet-biedl syndrome 21 (MONDO:0044308), inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa 64 (MONDO:0800359)

Orphanet (2): Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862)

HPO phenotypes

139 total (30 of 139 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000011	Neurogenic bladder
HP:0000028	Cryptorchidism
HP:0000076	Vesicoureteral reflux
HP:0000085	Horseshoe kidney
HP:0000100	Nephrotic syndrome
HP:0000119	Abnormality of the genitourinary system
HP:0000126	Hydronephrosis
HP:0000135	Hypogonadism
HP:0000147	Polycystic ovaries
HP:0000163	Abnormal oral cavity morphology
HP:0000164	Abnormality of the dentition
HP:0000218	High palate
HP:0000278	Retrognathia
HP:0000316	Hypertelorism
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000388	Otitis media
HP:0000400	Macrotia
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000426	Prominent nasal bridge
HP:0000470	Short neck
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000501	Glaucoma
HP:0000505	Visual impairment

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001762_591	Obesity-related traits	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004810	interleukin-6 measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
MT19c compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	increases expression	1
Folic Acid	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases expression	1
Aflatoxin B1	decreases methylation	1
Aflatoxin M1	decreases expression	1
Asbestos, Crocidolite	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

234 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
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
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
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
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline 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
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
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in 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
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
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)
NCT00063765	PHASE1	COMPLETED	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
NCT00065455	PHASE1	COMPLETED	Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa
NCT00458575	PHASE1	TERMINATED	A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa
NCT01068561	PHASE1	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa