IFT27

Summary

IFT27 (intraflagellar transport 27, HGNC:18626) is a protein-coding gene on chromosome 22q12.3, encoding Intraflagellar transport protein 27 homolog (Q9BW83). Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6.

This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 11020 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliopathy (Definitive, ClinGen) — +2 more curated relationships
• Clinical variants (ClinVar): 75 total — 5 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 115
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001177701

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18626
Approved symbol	IFT27
Name	intraflagellar transport 27
Location	22q12.3
Locus type	gene with protein product
Status	Approved
Aliases	RAYL, BBS19, FAP156, CFAP156
Ensembl gene	ENSG00000100360
Ensembl biotype	protein_coding
OMIM	615870
Entrez	11020

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 15 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000340630, ENST00000415653, ENST00000417951, ENST00000430701, ENST00000433985, ENST00000440696, ENST00000465023, ENST00000471809, ENST00000474616, ENST00000476548, ENST00000495555, ENST00000495987, ENST00000867616, ENST00000867617, ENST00000867618, ENST00000916899, ENST00000916900, ENST00000916901, ENST00000916902, ENST00000916903, ENST00000916904, ENST00000916905

RefSeq mRNA: 3 — MANE Select: NM_001177701 NM_001177701, NM_001363003, NM_006860

CCDS: CCDS13932, CCDS54523

Canonical transcript exons

ENST00000433985 — 7 exons

Exon	Start	End
ENSE00001527586	36775674	36776119
ENSE00001610849	36758211	36758409
ENSE00003488317	36766138	36766197
ENSE00003573768	36767306	36767365
ENSE00003580548	36767783	36767862
ENSE00003600960	36762904	36763013
ENSE00003788389	36763919	36764036

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 97.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.5261 / max 166.8273, expressed in 1755 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193970	23.9817	1753
193969	0.3106	137
193971	0.2338	84

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	97.90	gold quality
epithelium of bronchus	UBERON:0002031	95.25	gold quality
bronchial epithelial cell	CL:0002328	94.97	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.83	gold quality
bronchus	UBERON:0002185	94.82	gold quality
adenohypophysis	UBERON:0002196	94.80	gold quality
pituitary gland	UBERON:0000007	94.66	gold quality
caudate nucleus	UBERON:0001873	91.29	gold quality
nucleus accumbens	UBERON:0001882	91.24	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.09	gold quality
right lobe of thyroid gland	UBERON:0001119	90.83	gold quality
right adrenal gland	UBERON:0001233	90.83	gold quality
left testis	UBERON:0004533	90.78	gold quality
amygdala	UBERON:0001876	90.75	gold quality
right testis	UBERON:0004534	90.58	gold quality
putamen	UBERON:0001874	90.57	gold quality
left adrenal gland cortex	UBERON:0035825	90.42	gold quality
right adrenal gland cortex	UBERON:0035827	90.35	gold quality
left adrenal gland	UBERON:0001234	90.28	gold quality
left lobe of thyroid gland	UBERON:0001120	90.15	gold quality
right frontal lobe	UBERON:0002810	89.91	gold quality
ventricular zone	UBERON:0003053	89.85	gold quality
thyroid gland	UBERON:0002046	89.81	gold quality
metanephros cortex	UBERON:0010533	89.75	gold quality
endocervix	UBERON:0000458	89.69	gold quality
muscle layer of sigmoid colon	UBERON:0035805	89.62	gold quality
prefrontal cortex	UBERON:0000451	89.56	gold quality
spinal cord	UBERON:0002240	89.55	gold quality
adrenal cortex	UBERON:0001235	89.52	gold quality
apex of heart	UBERON:0002098	89.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	25.60
E-ANND-3	yes	8.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting IFT27, 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-190A-3P	100.00	80.35	5520
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-1276	99.36	68.18	1642
HSA-MIR-4528	99.18	69.77	1936
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-2278	97.30	66.19	1130

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 3)

• Study coupled human genetics with functional validation in zebrafish and identified IFT27 as a novel BBS gene (BBS19). (PMID:24488770)
• Loss of function IFT27 is associated with lethal fetal ciliopathy with renal agenesis. (PMID:29704304)
• Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome. (PMID:34888642)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000099279
mus_musculus	Ift27	ENSMUSG00000016637
rattus_norvegicus	Ift27	ENSRNOG00000006440

Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955), RAB41 (ENSG00000147127)

Protein

Protein identifiers

Intraflagellar transport protein 27 homolog — Q9BW83 (reviewed: Q9BW83)

Alternative names: Putative GTP-binding protein RAY-like, Rab-like protein 4

All UniProt accessions (5): Q9BW83, B1AH56, B1AH58, F5GZ09, H0Y6C7

UniProt curated annotations — full annotation on UniProt →

Function. Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6. Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6. Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation.

Subunit / interactions. Component of the IFT complex B, at least composed of IFT20, IFT25, IFT27, IFT52, IFT57, IFT74, IFT81, IFT88 and TRAF3IP1. Interacts with IFT25. Interacts with IFT70B. Interacts with RABL2/RABL2A; binding is equal in the presence of GTP or GDP. Interacts with ARL6; recognizes and binds with the GTP-free form of ARL6.

Subcellular location. Cell projection. Cilium. Cytoplasm. Flagellum.

Disease relevance. Bardet-Biedl syndrome 19 (BBS19) [MIM:615996] 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.

Similarity. Belongs to the small GTPase superfamily. Rab family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BW83-1	1	yes
Q9BW83-2	2

RefSeq proteins (3): NP_001171172, NP_001349932, NP_006851 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR034112	RabL4_euk	Family
IPR050209	Rab_GTPases_membrane_traffic	Family

Pfam: PF00071

UniProt features (8 total): binding site 3, mutagenesis site 2, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BW83-F1	92.65	0.81

Functional residue map

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

Ligand- & substrate-binding residues (3): 12–19; 64–68; 123–126

Mutagenesis-validated functional residues (2):

Position	Phenotype
19	gdp-locked.
68	gtp-locked.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5620924	Intraflagellar transport

MSigDB gene sets: 435 (showing top): TGCGCANK_UNKNOWN, MORF_MSH3, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_EAR_DEVELOPMENT, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, GOBP_MECHANORECEPTOR_DIFFERENTIATION, GOBP_COCHLEA_DEVELOPMENT

GO Biological Process (12): kidney development (GO:0001822), intracellular protein transport (GO:0006886), smoothened signaling pathway (GO:0007224), spermatogenesis (GO:0007283), vesicle-mediated transport (GO:0016192), intraciliary anterograde transport (GO:0035720), intraciliary transport (GO:0042073), inner ear receptor cell stereocilium organization (GO:0060122), cilium assembly (GO:0060271), cochlea development (GO:0090102), protein transport (GO:0015031), cell differentiation (GO:0030154)

GO Molecular Function (4): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (14): Golgi membrane (GO:0000139), nucleus (GO:0005634), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), centrosome (GO:0005813), cilium (GO:0005929), intraciliary transport particle A (GO:0030991), intraciliary transport particle B (GO:0030992), motile cilium (GO:0031514), sperm flagellum (GO:0036126), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), ciliary tip (GO:0097542), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Assembly of the 9+0 primary cilium	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cilium	3
intraciliary transport particle	3
intracellular protein localization	2
transport	2
cilium organization	2
intracellular membrane-bounded organelle	2
protein-containing complex	2
sperm flagellum	2
animal organ development	1
renal system development	1
protein transport	1
intracellular transport	1
cell surface receptor signaling pathway	1
developmental process involved in reproduction	1
male gamete generation	1
cellular process	1
intraciliary transport	1
transport along microtubule	1
neuron projection development	1
inner ear receptor cell development	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
inner ear development	1
anatomical structure development	1
establishment of protein localization	1
cellular developmental process	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1

Protein interactions and networks

STRING

894 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFT27	IFT25	Q9Y547	997
IFT27	IFT22	Q9H7X7	996
IFT27	IFT52	Q9Y366	996
IFT27	IFT74	Q96LB3	996
IFT27	IFT81	Q8WYA0	995
IFT27	IFT46	Q9NQC8	995
IFT27	IFT70B	Q8N4P2	995
IFT27	IFT88	Q13099	994
IFT27	IFT57	Q9NWB7	986
IFT27	IFT54	Q8TDR0	977
IFT27	IFT20	Q8IY31	966
IFT27	IFT172	Q9UG01	946
IFT27	IFT56	A0AVF1	932
IFT27	IFT80	Q9P2H3	917
IFT27	IFT140	Q96RY7	862

IntAct

69 interactions, top by confidence:

A	B	Type	Score
IFT27	IFT25	psi-mi:“MI:0915”(physical association)	0.940
IFT25	IFT27	psi-mi:“MI:0915”(physical association)	0.940
IFT56	IFT70A	psi-mi:“MI:0914”(association)	0.790
IFT70A	IFT56	psi-mi:“MI:0914”(association)	0.790
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
IFT25	IFT56	psi-mi:“MI:0914”(association)	0.690
IFT27	IFT56	psi-mi:“MI:0914”(association)	0.690
IFT22	IFT56	psi-mi:“MI:0914”(association)	0.640
IFT46	IFT56	psi-mi:“MI:0914”(association)	0.640
IFT88	IFT56	psi-mi:“MI:0914”(association)	0.640

BioGRID (77): IFT27 (Two-hybrid), HSPB11 (Two-hybrid), HSPB11 (Two-hybrid), IFT27 (Affinity Capture-MS), IFT27 (Proximity Label-MS), UBXN10 (Reconstituted Complex), IFT27 (Affinity Capture-MS), IFT27 (Affinity Capture-MS), IFT27 (Affinity Capture-MS), IFT27 (Affinity Capture-MS), IFT46 (Affinity Capture-MS), IFT74 (Affinity Capture-MS), IFT22 (Affinity Capture-MS), IFT27 (Affinity Capture-MS), IFT27 (Affinity Capture-MS)

ESM2 similar proteins: A2WSI7, A2YEQ6, A8HN58, O17915, P28748, P32835, P32836, P33519, P38543, P38544, P38545, P38546, P38547, P38548, P41916, P41917, P41918, P41919, P54765, P54766, P62825, P62826, P62827, P62828, P79735, Q0VCN3, Q381A3, Q3T054, Q4R4M9, Q580S0, Q5R556, Q61820, Q69XM7, Q6C2J1, Q6FR65, Q74ZA9, Q7F7I7, Q7RVL0, Q7ZZX9, Q8H156

Diamond homologs: A5D7F5, A8HN58, E2RQ15, M0RC99, O01803, O04486, O14966, O35509, O35963, O49513, O80501, P01123, P17608, P18066, P19892, P20339, P22129, P25766, P28185, P29687, P31583, P34143, P35278, P36862, P40393, P46629, P46638, P51146, P51147, P51148, P57735, P61017, P61018, P61020, P61021, P61271, P62490, P62491, P62492, P62493

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 20 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Intraflagellar transport	13	162.8×	3e-27

GO biological processes:

GO term	Partners	Fold	FDR
intraciliary anterograde transport	12	560.2×	3e-31
intraciliary transport	10	295.6×	3e-22
negative regulation of keratinocyte proliferation	5	184.8×	8e-10
keratinocyte proliferation	5	152.9×	2e-09
non-motile cilium assembly	6	91.8×	7e-10
smoothened signaling pathway	7	66.8×	2e-10
cilium assembly	13	50.4×	4e-19

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	1
Uncertain significance	26
Likely benign	32
Benign	4

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
2033458	NM_001177701.3(IFT27):c.171del (p.Ser57fs)	Pathogenic
2111398	NM_001177701.3(IFT27):c.97C>T (p.Gln33Ter)	Pathogenic
2910479	NM_001177701.3(IFT27):c.118_125del (p.Thr40fs)	Pathogenic
2981555	NM_001177701.3(IFT27):c.126_130del (p.Met42fs)	Pathogenic
585273	NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys)	Pathogenic
4730026	NM_001177701.3(IFT27):c.34+2T>C	Likely pathogenic

SpliceAI

1621 predictions. Top by Δscore:

Variant	Effect	Δscore
22:36764035:CACTG:C	acceptor_gain	1.0000
22:36764037:C:CC	acceptor_gain	1.0000
22:36767698:C:A	donor_gain	1.0000
22:36767872:C:CT	acceptor_gain	1.0000
22:36767873:A:T	acceptor_gain	1.0000
22:36763913:CCGTA:C	donor_loss	0.9900
22:36763914:CGTA:C	donor_loss	0.9900
22:36763915:GTACC:G	donor_loss	0.9900
22:36763916:TA:T	donor_loss	0.9900
22:36763917:A:C	donor_loss	0.9900
22:36763918:C:CG	donor_loss	0.9900
22:36764032:TCCCA:T	acceptor_gain	0.9900
22:36764033:CCCA:C	acceptor_gain	0.9900
22:36764033:CCCAC:C	acceptor_gain	0.9900
22:36764034:CCA:C	acceptor_gain	0.9900
22:36764034:CCAC:C	acceptor_gain	0.9900
22:36764035:CA:C	acceptor_gain	0.9900
22:36764039:G:C	acceptor_gain	0.9900
22:36764039:G:GC	acceptor_gain	0.9900
22:36767305:CCACA:C	donor_gain	0.9900
22:36767366:C:CC	acceptor_gain	0.9900
22:36767697:T:TA	donor_gain	0.9900
22:36767724:T:C	donor_gain	0.9900
22:36767743:T:TA	donor_gain	0.9900
22:36767860:CTC:C	acceptor_gain	0.9900
22:36767863:C:CC	acceptor_gain	0.9900
22:36767863:CT:C	acceptor_loss	0.9900
22:36758406:CTTT:C	acceptor_gain	0.9800
22:36758410:C:CC	acceptor_gain	0.9800
22:36764036:ACTG:A	acceptor_loss	0.9800

AlphaMissense

1206 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:36767841:G:A	T19I	0.995
22:36762994:C:A	K124N	0.994
22:36762994:C:G	K124N	0.994
22:36764015:A:G	C86R	0.994
22:36767843:C:A	K18N	0.992
22:36767843:C:G	K18N	0.992
22:36767845:T:G	K18Q	0.992
22:36763004:A:T	V121D	0.990
22:36767844:T:A	K18M	0.990
22:36767847:C:T	G17D	0.988
22:36762995:T:G	K124T	0.987
22:36762996:T:C	K124E	0.987
22:36767801:G:C	F32L	0.987
22:36767801:G:T	F32L	0.987
22:36767803:A:G	F32L	0.987
22:36767862:C:T	G12E	0.986
22:36775674:C:G	G12R	0.986
22:36775674:C:T	G12R	0.986
22:36767847:C:A	G17V	0.985
22:36767848:C:G	G17R	0.985
22:36767844:T:G	K18T	0.983
22:36767845:T:C	K18E	0.983
22:36775686:A:G	C8R	0.982
22:36758369:G:T	A168D	0.980
22:36762995:T:A	K124M	0.980
22:36763971:G:C	C100W	0.980
22:36764036:A:G	W79R	0.979
22:36764036:A:T	W79R	0.979
22:36767364:G:A	T39I	0.979
22:36764008:A:T	V88D	0.978

dbSNP variants (sampled 300 via entrez): RS1000026886 (22:36764548 T>A), RS1000286578 (22:36763619 C>A,T), RS1000346227 (22:36772688 G>A), RS1000795242 (22:36774852 C>A), RS1001092146 (22:36763490 G>A), RS1001358202 (22:36770127 G>T), RS1001387361 (22:36770297 T>G), RS1001469198 (22:36764256 A>G), RS1001545726 (22:36764274 C>T), RS1002016281 (22:36764488 C>G), RS1002362664 (22:36768892 A>G), RS1002592610 (22:36763164 G>A), RS1002712998 (22:36774609 A>C), RS1002716296 (22:36768472 G>A,T), RS1002743050 (22:36774974 A>G)

Disease associations

OMIM: gene MIM:615870 | disease phenotypes: MIM:615996, MIM:209900

GenCC curated gene-disease

Disease	Classification	Inheritance
Bardet-Biedl syndrome 19	Strong	Autosomal recessive
Bardet-Biedl syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
ciliopathy	Definitive	AR

Mondo (3): Bardet-Biedl syndrome 19 (MONDO:0014447), inherited retinal dystrophy (MONDO:0019118), Bardet-Biedl syndrome (MONDO:0015229)

Orphanet (2): Bardet-Biedl syndrome (Orphanet:110), OBSOLETE: Inherited retinal disorder (Orphanet:71862)

HPO phenotypes

115 total (30 of 115 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000011	Neurogenic bladder
HP:0000028	Cryptorchidism
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000085	Horseshoe kidney
HP:0000089	Renal hypoplasia
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: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:0000426	Prominent nasal bridge
HP:0000470	Short neck
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000545	Myopia

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
D058499	Retinal Dystrophies	C11.768.585.658

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Nickel	affects expression, decreases expression, decreases reaction	2
Smoke	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
sodium arsenate	decreases expression	1
trichostatin A	affects expression, decreases reaction	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
beta-methylcholine	affects 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	increases expression, affects cotreatment	1
nutlin 3	affects cotreatment, increases secretion	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
jinfukang	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Aspirin	increases expression	1
Vehicle Emissions	decreases reaction, increases expression	1
Calcium Chloride	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Cycloheximide	decreases expression, decreases reaction	1
Dactinomycin	affects cotreatment, increases secretion	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Gallic Acid	increases expression	1
Hydrogen Peroxide	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03746522	PHASE3	COMPLETED	Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity
NCT04966741	PHASE3	COMPLETED	Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
NCT05194124	PHASE3	COMPLETED	Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway
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
NCT03490019	PHASE2	WITHDRAWN	Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement
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]
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)
NCT00078091	Not specified	TERMINATED	Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
NCT00213811	Not specified	COMPLETED	Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT02329210	Not specified	RECRUITING	Clinical Registry Investigating Bardet-Biedl Syndrome
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry
NCT04461444	Not specified	RECRUITING	COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
NCT04463316	Not specified	RECRUITING	GROWing Up With Rare GENEtic Syndromes
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT05183802	Not specified	APPROVED_FOR_MARKETING	An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS)
NCT05400278	Not specified	COMPLETED	Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
NCT06239064	Not specified	ACTIVE_NOT_RECRUITING	Early Genetic Identification of Obesity
NCT06615011	Not specified	NOT_YET_RECRUITING	Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report
NCT07602803	Not specified	COMPLETED	The Effect of GLP1 Agonists on Weight Loss in BBS Cohort in the UK
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	EARLY_PHASE1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
NCT02983305	Not specified	COMPLETED	Optical Head-Mounted Display Technology for Low Vision Rehabilitation
NCT03592017	Not specified	COMPLETED	Performance of Long-wavelength Autofluorescence Imaging
NCT03662386	Not specified	TERMINATED	Prospective Analysis of Genotype-phenotype Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD