PKHD1L1

Summary

PKHD1L1 (PKHD1 like 1, HGNC:20313) is a protein-coding gene on chromosome 8q23.1-q23.2, encoding Fibrocystin-L (Q86WI1). Component of hair-cell stereocilia coat.

Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness.

Source: NCBI Gene 93035 — RefSeq curated summary.

At a glance

• Gene–disease (curated): sensorineural hearing loss disorder (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 729 total — 5 pathogenic, 11 likely-pathogenic
• Phenotypes (HPO): 7
• MANE Select transcript: NM_177531

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20313
Approved symbol	PKHD1L1
Name	PKHD1 like 1
Location	8q23.1-q23.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000205038
Ensembl biotype	protein_coding
OMIM	607843
Entrez	93035

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 retained_intron

ENST00000378402, ENST00000526472, ENST00000533183, ENST00000534623

RefSeq mRNA: 1 — MANE Select: NM_177531 NM_177531

CCDS: CCDS47911

Canonical transcript exons

ENST00000378402 — 78 exons

Exon	Start	End
ENSE00001477346	109526784	109527020
ENSE00001477348	109522744	109522890
ENSE00001477350	109522186	109522337
ENSE00001477352	109518167	109518508
ENSE00001477353	109515170	109515305
ENSE00001477356	109510777	109510934
ENSE00001477359	109508097	109508264
ENSE00001477362	109507663	109507895
ENSE00001477366	109504327	109504492
ENSE00001477368	109498655	109498771
ENSE00001477371	109497150	109497272
ENSE00001477374	109496919	109497067
ENSE00001477377	109493661	109493751
ENSE00001477379	109491873	109491994
ENSE00001477380	109490972	109491101
ENSE00001477382	109489952	109490055
ENSE00001477383	109486648	109486821
ENSE00001477384	109485044	109485173
ENSE00001477387	109482987	109483105
ENSE00001477388	109481433	109481562
ENSE00001477391	109479991	109480139
ENSE00001477393	109479551	109479639
ENSE00001477394	109477225	109477396
ENSE00001477395	109476508	109476667
ENSE00001477397	109475118	109475269
ENSE00001477398	109466578	109466769
ENSE00001477400	109464216	109465245
ENSE00001477401	109461772	109461908
ENSE00001477402	109459595	109459836
ENSE00001477403	109456262	109456391
ENSE00001477406	109454723	109454852
ENSE00001477409	109454167	109454246
ENSE00001477410	109452718	109452874
ENSE00001477411	109452124	109452280
ENSE00001477413	109450975	109451149
ENSE00001477414	109449338	109449487
ENSE00001477417	109448143	109448391
ENSE00001477419	109444661	109445645
ENSE00001477421	109443676	109443902
ENSE00001477423	109442946	109443116
ENSE00001477424	109442007	109442195
ENSE00001477426	109441275	109441379
ENSE00001477427	109440710	109440852
ENSE00001477428	109438897	109439092
ENSE00001477429	109438324	109438456
ENSE00001477430	109436338	109436459
ENSE00001477432	109435190	109435354
ENSE00001477434	109433106	109433216
ENSE00001477435	109429932	109430037
ENSE00001477436	109429340	109429462
ENSE00001477437	109427002	109427156
ENSE00001477439	109425085	109425232
ENSE00001477440	109420518	109420690
ENSE00001477442	109419097	109419260
ENSE00001477444	109413421	109413545
ENSE00001477445	109412265	109412414
ENSE00001477447	109409865	109409978
ENSE00001477449	109408049	109408206
ENSE00001477451	109406335	109406478
ENSE00001477454	109404995	109405130
ENSE00001477455	109404554	109404713
ENSE00001477456	109401497	109401588
ENSE00001477459	109400076	109400344
ENSE00001477462	109398459	109398548
ENSE00001477463	109396027	109396137
ENSE00001477465	109394415	109394485
ENSE00001477466	109390452	109390494
ENSE00001477467	109389079	109389152
ENSE00001477469	109388497	109388550
ENSE00001477470	109385537	109385630
ENSE00001477471	109384070	109384127
ENSE00001477472	109382463	109382571
ENSE00001477473	109381370	109381514
ENSE00001477474	109364547	109364636
ENSE00001477477	109362461	109362653
ENSE00002119143	109530080	109537207
ENSE00003533178	109498462	109498573
ENSE00003636484	109523233	109523386

Expression profiles

Bgee: expression breadth ubiquitous, 180 present calls, max score 98.64.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0238 / max 327.6218, expressed in 277 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
90258	1.4688	246
90260	0.2980	48
90262	0.2273	35
90261	0.0297	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.64	gold quality
left lobe of thyroid gland	UBERON:0001120	97.83	gold quality
oviduct epithelium	UBERON:0004804	97.39	gold quality
thyroid gland	UBERON:0002046	97.20	gold quality
right lobe of thyroid gland	UBERON:0001119	96.97	gold quality
germinal epithelium of ovary	UBERON:0001304	95.83	gold quality
parietal pleura	UBERON:0002400	94.47	gold quality
fallopian tube	UBERON:0003889	89.69	gold quality
peritoneum	UBERON:0002358	87.21	gold quality
omental fat pad	UBERON:0010414	87.18	gold quality
pericardium	UBERON:0002407	86.89	gold quality
left uterine tube	UBERON:0001303	85.54	gold quality
adipose tissue of abdominal region	UBERON:0007808	84.65	gold quality
right lung	UBERON:0002167	84.08	gold quality
cardiac muscle of right atrium	UBERON:0003379	83.17	gold quality
right atrium auricular region	UBERON:0006631	81.77	gold quality
cardiac atrium	UBERON:0002081	81.38	gold quality
pancreatic ductal cell	CL:0002079	80.20	silver quality
tibialis anterior	UBERON:0001385	80.16	gold quality
left ventricle myocardium	UBERON:0006566	80.07	gold quality
lymph node	UBERON:0000029	79.92	gold quality
endocervix	UBERON:0000458	79.85	gold quality
upper lobe of left lung	UBERON:0008952	79.68	gold quality
upper lobe of lung	UBERON:0008948	78.61	gold quality
endometrium	UBERON:0001295	77.63	gold quality
small intestine Peyer’s patch	UBERON:0003454	76.92	gold quality
mucosa of stomach	UBERON:0001199	75.26	gold quality
right adrenal gland cortex	UBERON:0035827	74.48	gold quality
lung	UBERON:0002048	74.37	gold quality
left adrenal gland cortex	UBERON:0035825	74.03	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	3768.35
E-GEOD-131882	yes	2572.54
E-GEOD-130473	yes	1781.16
E-GEOD-135922	yes	871.46
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting PKHD1L1, 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-4481	100.00	66.42	1669
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-122B-5P	99.46	70.81	1457
HSA-MIR-653-5P	99.46	67.35	1300

Literature-anchored findings (GeneRIF, showing 4)

• PKHDL1 may have a role in cellular immunity (PMID:12620974)
• High probability of detection of PKHD1L1*I/I had a Long-lived women and PKHD1L1*I/D genotype was a significant factor in providing of male longevity of the ethnically homogeneous group of Tatars from the Republic of Bashkortostan, Russia. (PMID:28556638)
• Systematic Multiomic Analysis of PKHD1L1 Gene Expression and Its Role as a Predicting Biomarker for Immune Cell Infiltration in Skin Cutaneous Melanoma and Lung Adenocarcinoma. (PMID:38203530)
• PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. (PMID:38459354)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pkhd1l1.2	ENSDARG00000040004
danio_rerio	pkhd1l1.1	ENSDARG00000091116
mus_musculus	Pkhd1l1	ENSMUSG00000038725
rattus_norvegicus	Pkhd1l1	ENSRNOG00000004398

Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)

Protein

Protein identifiers

Fibrocystin-L — Q86WI1 (reviewed: Q86WI1)

Alternative names: Polycystic kidney and hepatic disease 1-like protein 1

All UniProt accessions (2): Q86WI1, H0YF65

UniProt curated annotations — full annotation on UniProt →

Function. Component of hair-cell stereocilia coat. Required for normal hearing.

Subcellular location. Membrane. Cell projection. Stereocilium membrane.

Disease relevance. Deafness, autosomal recessive, 124 (DFNB124) [MIM:620794] A form of non-syndromic deafness characterized by progressive sensorineural hearing loss with onset at birth. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease may be caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_803875* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002909	IPT_dom	Domain
IPR006626	PbH1	Repeat
IPR008972	Cupredoxin	Homologous_superfamily
IPR011050	Pectin_lyase_fold/virulence	Homologous_superfamily
IPR011658	PA14_dom	Domain
IPR012334	Pectin_lyas_fold	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR014756	Ig_E-set	Homologous_superfamily
IPR019316	G8_domain	Domain
IPR037524	PA14/GLEYA	Domain
IPR052387	Fibrocystin	Family
IPR055401	CEMIP_beta-hel_dom	Domain

Pfam: PF01833, PF07691, PF10162, PF24606

UniProt features (58 total): sequence variant 20, domain 17, repeat 9, glycosylation site 6, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q86WI1 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

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 (6): 122, 445, 1803, 1839, 2320, 3736

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 91 (showing top): RRAGTTGT_UNKNOWN, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, EVI1_05, HUI_MAPK14_TARGETS_UP, GOBP_SENSORY_PERCEPTION, GOCC_NEURON_PROJECTION, GOCC_CELL_PROJECTION_MEMBRANE, GOCC_STEREOCILIUM_BUNDLE, GOCC_LEADING_EDGE_MEMBRANE, GOCC_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS, GOCC_PLASMA_MEMBRANE_REGION, GOCC_NEURON_PROJECTION_MEMBRANE, GOCC_ACTIN_BASED_CELL_PROJECTION, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON

GO Biological Process (2): immune response (GO:0006955), sensory perception of sound (GO:0007605)

GO Molecular Function (1): signaling receptor activity (GO:0038023)

GO Cellular Component (8): obsolete extracellular space (GO:0005615), cytosol (GO:0005829), membrane (GO:0016020), stereocilium tip (GO:0032426), stereocilium membrane (GO:0060171), stereocilium coat (GO:0120234), plasma membrane (GO:0005886), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
stereocilium	2
immune system process	1
response to stimulus	1
sensory perception of mechanical stimulus	1
molecular transducer activity	1
cytoplasm	1
neuron projection membrane	1
glycocalyx	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

848 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PKHD1L1	CSMD3	Q7Z407	585
PKHD1L1	XIRP2	A4UGR9	486
PKHD1L1	USH2A	O75445	476
PKHD1L1	LRP1B	Q9NZR2	446
PKHD1L1	PCLO	Q9Y6V0	437
PKHD1L1	FAM111B	Q6SJ93	424
PKHD1L1	CEMIP2	Q9UHN6	423
PKHD1L1	C14orf119	Q9NWQ9	413
PKHD1L1	SCLT1	Q96NL6	412
PKHD1L1	CDCP2	Q5VXM1	412
PKHD1L1	JPH4	Q96JJ6	410
PKHD1L1	MAST4	O15021	408
PKHD1L1	ZDBF2	Q9HCK1	396
PKHD1L1	CCDC73	Q6ZRK6	395
PKHD1L1	PRRT2	Q7Z6L0	387

IntAct

4 interactions, top by confidence:

A	B	Type	Score
POLR2A	PKHD1L1	psi-mi:“MI:0915”(physical association)	0.400
Cbx7		psi-mi:“MI:0914”(association)	0.350
SHANK3	IGKV3D-15	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): PKHD1L1 (Synthetic Lethality), PKHD1L1 (Affinity Capture-MS), PKHD1L1 (Proximity Label-MS), RPL29 (Cross-Linking-MS (XL-MS)), RPL35 (Cross-Linking-MS (XL-MS)), PKHD1L1 (Affinity Capture-MS)

ESM2 similar proteins: A0A131MBU3, A1DD80, A8XP79, B0Y2K1, B3A0R6, B3A0S3, G5ECX0, H2A0L2, H2A0L3, H2A0L6, M9NDE3, M9PE65, O18016, O42814, O55159, O70417, P08471, P29998, P34393, P45442, P55303, P60988, P86785, P86953, P86954, P86956, P90754, Q17043, Q17800, Q18331, Q19040, Q19617, Q1L8P7, Q20826, Q20911, Q22531, Q24JV9, Q26627, Q4WW45, Q5UR19

Diamond homologs: Q07E01, Q80ZA4, Q86WI1, Q9UHN6, A3KPQ7, Q54KF6, Q5FWI3, Q8BI06, Q8WUJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	11
Uncertain significance	615
Likely benign	48
Benign	6

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
3220942	NM_177531.6(PKHD1L1):c.385G>A (p.Gly129Ser)	Pathogenic
3220943	NM_177531.6(PKHD1L1):c.3941G>T (p.Gly1314Val)	Pathogenic
3220944	NM_177531.6(PKHD1L1):c.10141C>T (p.Arg3381Ter)	Pathogenic
3220946	NM_177531.6(PKHD1L1):c.1813G>A (p.Gly605Arg)	Pathogenic
3220947	NM_177531.6(PKHD1L1):c.8452_8468del (p.Leu2818fs)	Pathogenic
4813843	NM_177531.6(PKHD1L1):c.847C>T (p.Arg283Ter)	Likely pathogenic
4813844	NM_177531.6(PKHD1L1):c.6563del (p.Gly2188fs)	Likely pathogenic
4845677	NM_177531.6(PKHD1L1):c.7417C>T (p.Arg2473Ter)	Likely pathogenic
4845713	NM_177531.6(PKHD1L1):c.5944del (p.His1982fs)	Likely pathogenic
4845730	NM_177531.6(PKHD1L1):c.1553G>A (p.Trp518Ter)	Likely pathogenic
4845900	NM_177531.6(PKHD1L1):c.8946dup (p.Gln2983fs)	Likely pathogenic
4849320	NM_177531.6(PKHD1L1):c.8581_8593del (p.Asp2861fs)	Likely pathogenic
4849331	NM_177531.6(PKHD1L1):c.769delinsTTT (p.Val257fs)	Likely pathogenic
4849367	NM_177531.6(PKHD1L1):c.7206G>A (p.Trp2402Ter)	Likely pathogenic
4849387	NM_177531.6(PKHD1L1):c.542C>G (p.Ser181Ter)	Likely pathogenic
4849417	NM_177531.6(PKHD1L1):c.1127C>A (p.Ser376Ter)	Likely pathogenic

SpliceAI

11791 predictions. Top by Δscore:

Variant	Effect	Δscore
8:109364634:A:T	donor_gain	1.0000
8:109382457:TTATA:T	acceptor_loss	1.0000
8:109382460:TAG:T	acceptor_gain	1.0000
8:109382460:TAGAG:T	acceptor_loss	1.0000
8:109382461:A:AC	acceptor_loss	1.0000
8:109382461:A:AG	acceptor_gain	1.0000
8:109382461:AGA:A	acceptor_gain	1.0000
8:109382462:G:C	acceptor_gain	1.0000
8:109382462:G:GG	acceptor_gain	1.0000
8:109382462:GA:G	acceptor_gain	1.0000
8:109382462:GAGC:G	acceptor_gain	1.0000
8:109382462:GAGCA:G	acceptor_gain	1.0000
8:109382558:A:T	donor_gain	1.0000
8:109382570:AC:A	donor_gain	1.0000
8:109382571:CGTA:C	donor_loss	1.0000
8:109382572:G:A	donor_loss	1.0000
8:109382572:GTAT:G	donor_gain	1.0000
8:109382573:T:A	donor_loss	1.0000
8:109382576:G:GG	donor_gain	1.0000
8:109385582:G:GT	donor_gain	1.0000
8:109401480:T:TA	acceptor_gain	1.0000
8:109401489:C:CA	acceptor_gain	1.0000
8:109401496:GGT:G	acceptor_gain	1.0000
8:109401584:AAAGA:A	donor_gain	1.0000
8:109401586:AGA:A	donor_gain	1.0000
8:109401586:AGAGT:A	donor_loss	1.0000
8:109401587:GA:G	donor_gain	1.0000
8:109401587:GAG:G	donor_gain	1.0000
8:109401589:G:GG	donor_gain	1.0000
8:109401589:GT:G	donor_loss	1.0000

AlphaMissense

27930 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:109464440:T:A	N2536K	0.997
8:109464440:T:G	N2536K	0.997
8:109464539:T:A	N2569K	0.997
8:109464539:T:G	N2569K	0.997
8:109464674:T:A	N2614K	0.997
8:109464674:T:G	N2614K	0.997
8:109394416:A:C	S248R	0.996
8:109394418:T:A	S248R	0.996
8:109394418:T:G	S248R	0.996
8:109508186:A:C	S3773R	0.996
8:109508188:T:A	S3773R	0.996
8:109508188:T:G	S3773R	0.996
8:109454203:T:C	L2234P	0.995
8:109454221:T:C	L2240P	0.995
8:109464455:C:A	N2541K	0.995
8:109464455:C:G	N2541K	0.995
8:109475168:T:A	W2886R	0.995
8:109475168:T:C	W2886R	0.995
8:109381504:T:C	C100R	0.994
8:109454814:A:T	K2279I	0.994
8:109464364:T:C	L2511P	0.994
8:109464421:A:T	D2530V	0.994
8:109510903:G:C	R3841P	0.994
8:109454847:T:C	L2290P	0.993
8:109464259:T:A	I2476K	0.993
8:109464420:G:C	D2530H	0.993
8:109464554:T:A	N2574K	0.993
8:109464554:T:G	N2574K	0.993
8:109464585:T:A	W2585R	0.993
8:109464585:T:C	W2585R	0.993

dbSNP variants (sampled 300 via entrez): RS1000019845 (8:109507003 G>A), RS1000027157 (8:109379580 T>C), RS1000033281 (8:109384364 C>T), RS1000074808 (8:109492745 A>C), RS1000080562 (8:109379258 G>A), RS1000085388 (8:109384576 G>A,T), RS1000117502 (8:109406768 C>A,T), RS1000124599 (8:109483969 A>G), RS1000126595 (8:109427505 A>C), RS1000150074 (8:109409268 A>G), RS1000159639 (8:109437934 G>A), RS1000162800 (8:109535164 A>G), RS1000183527 (8:109397308 G>A), RS1000191818 (8:109484214 T>C,G), RS1000199897 (8:109397630 C>T)

Disease associations

OMIM: gene MIM:607843 | disease phenotypes: MIM:620794

GenCC curated gene-disease

Disease	Classification	Inheritance
sensorineural hearing loss disorder	Strong	Autosomal recessive
autosomal recessive nonsyndromic hearing loss 124	Limited	Autosomal recessive

Mondo (2): autosomal recessive nonsyndromic hearing loss 124 (MONDO:0968981), sensorineural hearing loss disorder (MONDO:0020678)

Orphanet (0):

HPO phenotypes

7 total (7 of 7 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000478	Abnormality of the eye
HP:0001249	Intellectual disability
HP:0001626	Abnormality of the cardiovascular system
HP:0001751	Abnormal vestibular function
HP:0003577	Congenital onset

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001762_937	Obesity-related traits	3.000000e-06
GCST003542_207	Night sleep phenotypes	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement

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
Benzo(a)pyrene	decreases expression, increases methylation	2
aminomethylphosphonic acid (AMPA)	decreases expression	1
triphenyl phosphate	affects expression	1
CGP 52608	increases reaction, affects binding	1
2-palmitoylglycerol	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Methotrexate	increases expression	1
Progesterone	affects cotreatment, increases expression	1
Silicon Dioxide	increases expression	1
Triclosan	increases expression	1
2,4-Dichlorophenoxyacetic Acid	decreases expression	1
Sodium Selenite	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01655212	PHASE3	TERMINATED	Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial
NCT02005822	PHASE3	COMPLETED	Congenital Cytomegalovirus: Efficacy of Antiviral Treatment
NCT03374514	PHASE3	UNKNOWN	Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery
NCT02497690	PHASE2	COMPLETED	Effectiveness of Therapy Via Telemedicine Following Cochlear Implants
NCT03107871	PHASE2	ACTIVE_NOT_RECRUITING	Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants
NCT04120116	PHASE2	COMPLETED	FX-322 in Adults With Stable Sensorineural Hearing Loss
NCT05061758	PHASE2	WITHDRAWN	A Trial of LY3056480 in Patients With SNLH
NCT07364747	PHASE2	RECRUITING	Protective Effect of Acetylcysteine Against Cisplatinum-Induced Ototoxicity: A Randomized Controlled Trial
NCT02259595	PHASE1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT02693704	PHASE2/PHASE3	COMPLETED	Evaluation of a Binaural Spatialization Method for Hearing Aids
NCT02882477	PHASE2/PHASE3	UNKNOWN	Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy
NCT01267994	PHASE1/PHASE2	COMPLETED	A Clinical Trial of Anakinra for Steroid-Resistant Autoimmune Inner Ear Disease
NCT01902914	PHASE1/PHASE2	UNKNOWN	Effectiveness of P02 Digital Hearing Aids
NCT02038972	PHASE1/PHASE2	COMPLETED	Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss
NCT02616172	PHASE1/PHASE2	SUSPENDED	Autologous Bone Marrow Harvest and Transplant for Sensorineural Hearing Loss
NCT03616223	PHASE1/PHASE2	COMPLETED	FX-322 in Sensorineural Hearing Loss
NCT04129775	PHASE1/PHASE2	COMPLETED	OTO-413 in Subjects With Speech-in-Noise Hearing Impairment
NCT04462198	PHASE1/PHASE2	COMPLETED	Phase I/IIa Study Evaluating Safety and Efficacy of an Intratympanic Dose of PIPE-505 in Subjects With Hearing Loss
NCT07032038	PHASE1/PHASE2	NOT_YET_RECRUITING	First In Human Randomised Trial of Rincell-1 in Adults With a Cochlear Implant
NCT06025097	EARLY_PHASE1	COMPLETED	Intra-Tympanic Steroid With PRP Combination in Sensorineural Hearing Loss and Tinnitus.
NCT06707389	EARLY_PHASE1	NOT_YET_RECRUITING	Autologous Blood Monocyte Vesicles for the Treatment of Sudden Deafness
NCT07472023	EARLY_PHASE1	ENROLLING_BY_INVITATION	Regenerative Medicine and Stem Cell-Based Interventions for Inner Ear Trauma, Tinnitus, and Sensorineural Hearing Loss
NCT00023036	Not specified	COMPLETED	Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts
NCT00023049	Not specified	COMPLETED	Genetic Analysis of Hereditary Disorders of Hearing and Balance
NCT00261768	Not specified	COMPLETED	Efficacy of Digital Noise Reduction Strategies: A Hearing Aid Trial
NCT00589511	Not specified	COMPLETED	Nucleus Freedom Cochlear Implant System Pediatric Post-approval Study
NCT00678899	Not specified	COMPLETED	Evaluation of the Nucleus Hybrid™ L24 Cochlear Implant System
NCT00787189	Not specified	COMPLETED	Study of Low Level Laser Therapy and Word Recognition in Hearing Impaired Individuals
NCT01184248	Not specified	COMPLETED	The Effect of Sound Stimulation on Pure-tone Hearing Threshold
NCT01434446	Not specified	COMPLETED	The Effect of Sound Stimulation on Hearing Ability
NCT01749592	Not specified	COMPLETED	Single-sided Deafness and Cochlear Implants
NCT01781039	Not specified	COMPLETED	Investigation of Anatomical Correlates of Speech Discrimination
NCT02082431	Not specified	COMPLETED	Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss.
NCT02093806	Not specified	UNKNOWN	Clinical Applications of Round Window Imaging Anatomy in Cochlear Implant Surgery
NCT02252601	Not specified	UNKNOWN	Evaluation of the High Frequency Digit Triplet Test in Cystic Fibrosis
NCT02584361	Not specified	UNKNOWN	Cochlear Implant and Vestibular Function.
NCT02638883	Not specified	COMPLETED	Implantation of the Cochlear™ Nucleus® Hybrid S Round Window (S-RW) in Adults
NCT02689349	Not specified	COMPLETED	Esteem New Subject Enrollment Post Approval Study
NCT02698787	Not specified	COMPLETED	Fundamental Asynchronous Stimulus Timing Sound Coding Study
NCT02798783	Not specified	COMPLETED	Enlarged Vestibular Aqueduct Registry