ALMS1

Summary

ALMS1 (ALMS1 centrosome and basal body associated protein, HGNC:428) is a protein-coding gene on chromosome 2p13.1, encoding Centrosome-associated protein ALMS1 (Q8TCU4). Involved in PCM1-dependent intracellular transport.

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined.

Source: NCBI Gene 7840 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Alstrom syndrome (Definitive, ClinGen)
• GWAS associations: 75
• Clinical variants (ClinVar): 7,452 total — 635 pathogenic, 297 likely-pathogenic
• Phenotypes (HPO): 144
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001378454

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:428
Approved symbol	ALMS1
Name	ALMS1 centrosome and basal body associated protein
Location	2p13.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0328
Ensembl gene	ENSG00000116127
Ensembl biotype	protein_coding
OMIM	606844
Entrez	7840

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 9 protein_coding, 7 nonsense_mediated_decay, 6 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000423048, ENST00000464408, ENST00000484298, ENST00000490821, ENST00000613296, ENST00000614410, ENST00000620466, ENST00000651057, ENST00000651434, ENST00000651750, ENST00000652487, ENST00000682565, ENST00000682675, ENST00000682801, ENST00000682859, ENST00000682889, ENST00000683108, ENST00000683147, ENST00000683791, ENST00000684148, ENST00000684197, ENST00000684460, ENST00000684548, ENST00000684590, ENST00000684656

RefSeq mRNA: 2 — MANE Select: NM_001378454 NM_001378454, NM_015120

CCDS: CCDS42697

Canonical transcript exons

ENST00000613296 — 23 exons

Exon	Start	End
ENSE00003500474	73455162	73455295
ENSE00003520693	73572262	73573424
ENSE00003528865	73489634	73491498
ENSE00003632752	73519775	73520016
ENSE00003640307	73599401	73599521
ENSE00003674030	73600678	73600881
ENSE00003712451	73447960	73454067
ENSE00003713961	73601195	73601436
ENSE00003730907	73408622	73408747
ENSE00003731228	73424430	73424902
ENSE00003733666	73602185	73602368
ENSE00003733994	73608475	73608574
ENSE00003735498	73550267	73550437
ENSE00003736009	73557220	73557354
ENSE00003736150	73426453	73426553
ENSE00003737922	73419123	73419318
ENSE00003740088	73534824	73534949
ENSE00003742555	73432198	73432291
ENSE00003744697	73422857	73422974
ENSE00003744901	73609568	73609916
ENSE00003748191	73558972	73559142
ENSE00003749420	73603241	73603304
ENSE00003843259	73385836	73386192

Expression profiles

Bgee: expression breadth ubiquitous, 275 present calls, max score 98.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.2199 / max 193.3725, expressed in 1725 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
20955	5.0529	1275
20956	4.6086	1479
20953	1.5019	802
20957	0.6707	427
20954	0.3859	155

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	98.83	gold quality
periodontal ligament	UBERON:0008266	98.24	silver quality
cardia of stomach	UBERON:0001162	98.07	gold quality
renal medulla	UBERON:0000362	98.02	gold quality
ventral tegmental area	UBERON:0002691	97.90	gold quality
pylorus	UBERON:0001166	97.72	gold quality
inferior vagus X ganglion	UBERON:0005363	97.71	gold quality
subthalamic nucleus	UBERON:0001906	97.63	gold quality
nipple	UBERON:0002030	97.55	gold quality
superior surface of tongue	UBERON:0007371	97.44	silver quality
superior vestibular nucleus	UBERON:0007227	97.43	gold quality
sperm	CL:0000019	97.42	gold quality
lateral globus pallidus	UBERON:0002476	97.41	gold quality
trigeminal ganglion	UBERON:0001675	97.31	gold quality
endothelial cell	CL:0000115	96.83	gold quality
pericardium	UBERON:0002407	96.70	silver quality
substantia nigra pars compacta	UBERON:0001965	96.52	silver quality
substantia nigra pars reticulata	UBERON:0001966	96.39	gold quality
vena cava	UBERON:0004087	96.38	silver quality
pharyngeal mucosa	UBERON:0000355	96.24	silver quality
lateral nuclear group of thalamus	UBERON:0002736	96.17	silver quality
saphenous vein	UBERON:0007318	96.11	gold quality
pancreatic ductal cell	CL:0002079	96.06	gold quality
medulla oblongata	UBERON:0001896	95.89	gold quality
urethra	UBERON:0000057	95.79	gold quality
male germ cell	CL:0000015	95.75	gold quality
pons	UBERON:0000988	95.54	silver quality
dorsal root ganglion	UBERON:0000044	95.18	silver quality
tongue	UBERON:0001723	94.99	silver quality
penis	UBERON:0000989	94.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.99

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

20 targeting ALMS1, 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-4789-3P	99.99	70.75	2484
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-4717-3P	99.06	66.34	1072
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-3928-3P	97.61	66.53	1096
HSA-MIR-526B-5P	97.41	67.99	1074
HSA-MIR-4475	97.36	66.95	761
HSA-MIR-3059-3P	96.71	67.08	606
HSA-MIR-365A-5P	94.91	63.72	471
HSA-MIR-365B-5P	94.91	63.79	470

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. (PMID:11941369)
• Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. (PMID:11941370)
• Variation not associated with NIDDM. (PMID:12827243)
• “Alstrom syndrome is an autosomal recessive disease mapped to chromosome 2p12-13. The mutation of the ALMS1 gene causes obesity…and neurosensory degeneration in Alstrom synddrome” p. 297 (PMID:14646408)
• ALSM1 involved in central role for basal body and centrosome dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes (PMID:15855349)
• Common variations in the ALMS1 gene were not associated with type 2 diabetes in a large study of a white UK population. (PMID:16601972)
• data may have implications for the understanding of the molecular mechanisms of ALMS1 and provides the basis for further investigation of how alternative splicing of ALMS1 contributes to the severity of the disease (PMID:17594715)
• Data show that Alms1 is expressed at higher level in preadipocytes suggesting a role of the gene in the early phase of adipogenesis. Changes in fat cell insulin sensitivity do not imply any effect on Alms1 expression. (PMID:18506366)
• ALMS1 gene is a marker for a progressive autosomal recessive genetic disorders affecting multiple organs. (PMID:19091203)
• By reporting four novel alleles, we use Alstrom disease to exemplify the interesting observation of allelic heterogeneity for a very rare autosomal recessive disorder in a highly inbred population. (PMID:19283855)
• In summary, this work provides the first data on transcription factors regulating general and context-specific transcription of the disease-associated gene ALMS1. (PMID:20381594)
• data suggest centrosomal functions for C10orf90 and KIAA1731 and new centriole-related functions for ALMS1 (PMID:20844083)
• ALMS1-deficient fibroblasts showed a constitutively activated myofibroblast phenotype even if they do not derive from a fibrotic lesion. (PMID:21541333)
• in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A (PMID:21901789)
• Dilated cardiomyopathy (DCM) is one of the major manifestations of ALMS and ranges from sudden-onset infantile congestive heart failure (CHF) and DCM, which often resolves with treatment, to adult-onset cardiomyopathy (PMID:22447358)
• a role for ALMS1 variants in the recycling endosome pathway (PMID:22693585)
• Four mutations in ALMS1-two novel nonsense mutations in one family (p.Y1715X and p.S616X), one two previously described mutations were identified in Spanish families with Alstrom syndrome. (PMID:22876109)
• Data show that mutations in ALMS1 were indicated in 20 of 23 subjects. (PMID:23445176)
• Our observation broadens the clinical spectrum of Alstrom syndrome and suggests that ALMS1 mutations may be considered in patients who initially present with an acute onset of insulin-dependent diabetes (PMID:23652376)
• The purpose of this study was to identify ALMS1 mutations and to assess the clinical features of Chinese patients with Alstrom syndrome. (PMID:24049434)
• Data indicate that representative single-nucleotide polymorphisms of the Alstrom syndrome 1 gene (ALMS1) promoter region were significantly associated with early-onset myocardial infarction (MI) in both Japanese and Korean populations. (PMID:24122612)
• A novel ALMS1 mutation (p.Q2051X) causes Alstrom syndrome in two Japanese brothers but spares their heterozygous parents. (PMID:24319333)
• Our study expands the clinical spectrum associated with ALMS1 mutations and supports complete ALMS1 gene sequencing in children that present with infantile cardiomyopathy and retinopathy. (PMID:24503146)
• Data conclude that deficiency of Alstrom protein impairs postnatal cardiomyocyte cell cycle arrest. (PMID:24595103)
• regulates Notch activation and the accumulation of receptor in late endosomes (PMID:24681783)
• Identification of a homozygous deleterious mutation in the ALMS1 gene as the cause of mitogenic cardiomyopathy in two siblings. (PMID:24972238)
• ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare. (PMID:25296579)
• The study represents the most comprehensive mutation analysis in patients with Alstrom Syndrome, identifying the largest number of novel mutations in a single study worldwide. (PMID:25846608)
• In this study, we have characterized the presenting ophthalmic phenotype of young children molecularly confirmed to harbor recessive homozygous ALMS1 mutations but not yet diagnosed with Alstrom syndrome. (PMID:25864795)
• We conclude that two independent mutations in ALMS1 and DYSF cause CRD and muscular dystrophy in the studied consanguineous Israeli Arab family. (PMID:26077327)
• ALMS1 homozygous mutation is associated with Alstrom syndrome. (PMID:26910739)
• Two novel mutations causing phenotypic LCA and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies. (PMID:26957854)
• DNA microarray analysis suggested that ALMS1 might be differentially expressed between Hodgkin lymphoma (HL) cells and normal tissues. (PMID:28135309)
• Genetic study included polymerase chain reaction amplification and direct nucleotide sequencing of the entire ALMS1 gene in DNA from seven related Alstrom Syndrome patients. A homozygous single-nucleotide c.10480C>T substitution in exon 16, predicting a p.Q3494* nonsense mutation, was identified in all affected subjects (PMID:28402684)
• Only genetic testing analysing both nonsyndromic retinal disease (RD) genes and syndromic ciliopathy genes by comprehensive panel sequencing can result in the correct diagnosis, genetically and clinically, with important implication for the physical health of the individual. (PMID:29193673)
• After adjusting for age, there were no significant associations of kidney dysfunction with type 2 diabetes mellitus, dyslipidemia, hypertension, cardiomyopathy or portal hypertension suggesting that kidney disease in AS is a primary manifestation of the syndrome due to lack of ALMS1 protein. (PMID:30064963)
• This review presents mechanistic details on the role of ALMS1 in several processes including endosomal trafficking, actin organisation, maintenance of centrosome cohesion and transcription. In line with a more complex picture, multiple isoforms of the protein likely exist and non-centrosomal sites of localisation have been reported. This review outlines the evidence for both ciliary and extra-ciliary functions [review] (PMID:30421101)
• Homozygous mutations in the ALMS1 gene is associated with Non-syndromic retinal dystrophy. (PMID:30488743)
• Phenotypic and mutational spectrum of 21 Chinese patients with Alstrom syndrome. (PMID:31755649)
• Two North American siblings who presented with a mild clinical phenotype of Alstrom syndrome were found to have novel mutations in ALMS1. These two frame-shift mutations segregated with the disease phenotype lending evidence to their pathogenicity. (PMID:31810438)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Alms1	ENSMUSG00000063810
rattus_norvegicus	Alms1	ENSRNOG00000022343

Paralogs (3): C10orf90 (ENSG00000154493), CEP295 (ENSG00000166004), CEP295NL (ENSG00000178404)

Protein

Protein identifiers

Centrosome-associated protein ALMS1 — Q8TCU4 (reviewed: Q8TCU4)

Alternative names: Alstrom syndrome protein 1

All UniProt accessions (16): Q8TCU4, A0A087WTU9, A0A087WV20, A0A494BZW1, A0A494C003, A0A494C0F1, A0A494C1N9, A0A804HI60, A0A804HIB7, A0A804HJ69, A0A804HJA5, A0A804HJW3, A0A804HKC0, A0A804HKP4, A0A804HL70, H7C1D9

UniProt curated annotations — full annotation on UniProt →

Function. Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Cilium basal body. Spindle pole.

Tissue specificity. Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level).

Disease relevance. Alstrom syndrome (ALMS) [MIM:203800] A rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the ALMS1 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TCU4-1	1	yes
Q8TCU4-2	2
Q8TCU4-3	3

RefSeq proteins (2): NP_001365383, NP_055935 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029299	ALMS_motif	Domain
IPR040972	ALMS_repeat	Repeat

Pfam: PF15309, PF18727

UniProt features (99 total): repeat 34, region of interest 21, compositionally biased region 20, sequence variant 10, modified residue 6, sequence conflict 4, splice variant 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q8TCU4 — 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.

Post-translational modifications (6): 464, 1189, 2143, 2466, 2632, 2805

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259	Loss of Nlp from mitotic centrosomes
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-8854518	AURKA Activation by TPX2
R-HSA-1640170	Cell Cycle
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-380287	Centrosome maturation
R-HSA-453274	Mitotic G2-G2/M phases
R-HSA-5617833	Cilium Assembly
R-HSA-68877	Mitotic Prometaphase
R-HSA-68886	M Phase
R-HSA-69275	G2/M Transition
R-HSA-69278	Cell Cycle, Mitotic

MSigDB gene sets: 462 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, BROWNE_HCMV_INFECTION_6HR_DN, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, EFC_Q6, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_CENTRIOLE_REPLICATION, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_CENTRIOLE_ASSEMBLY, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE

GO Biological Process (4): endosomal transport (GO:0016197), regulation of centriole replication (GO:0046599), regulation of stress fiber assembly (GO:0051492), positive regulation of cold-induced thermogenesis (GO:0120162)

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

GO Cellular Component (13): spindle pole (GO:0000922), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), centrosome (GO:0005813), cytosol (GO:0005829), microtubule cytoskeleton (GO:0015630), ciliary basal body (GO:0036064), sperm end piece (GO:0097229), cytoplasm (GO:0005737), centriole (GO:0005814), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
G2/M Transition	3
Centrosome maturation	2
Cell Cycle, Mitotic	2
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Assembly of the 9+0 primary cilium	1
Organelle biogenesis and maintenance	1
M Phase	1
Mitotic G2-G2/M phases	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
microtubule organizing center	3
cytoplasm	2
intracellular membraneless organelle	2
vesicle-mediated transport	1
intracellular transport	1
centriole replication	1
regulation of centrosome duplication	1
regulation of organelle assembly	1
regulation of actin filament bundle assembly	1
stress fiber assembly	1
regulation of actomyosin structure organization	1
positive regulation of multicellular organismal process	1
cold-induced thermogenesis	1
regulation of cold-induced thermogenesis	1
binding	1
spindle	1
nuclear lumen	1
intracellular membrane-bounded organelle	1
centriole	1
cytoskeleton	1
cilium	1
sperm flagellum	1
intracellular anatomical structure	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

2638 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ALMS1	XPNPEP3	Q9NQH7	831
ALMS1	SLC4A5	Q9BY07	824
ALMS1	CEP290	O15078	773
ALMS1	DNAAF1	Q8NEP3	765
ALMS1	BBS7	Q8IWZ6	741
ALMS1	BBS1	Q8NFJ9	710
ALMS1	BBS10	Q8TAM1	632
ALMS1	RHO	P08100	625
ALMS1	BBS2	Q9BXC9	617
ALMS1	BBS4	Q96RK4	598
ALMS1	BBS12	Q6ZW61	584
ALMS1	INS	P01308	566
ALMS1	BBS5	Q8N3I7	559
ALMS1	ACTN4	O43707	521
ALMS1	SLC12A1	Q13621	512

IntAct

124 interactions, top by confidence:

A	B	Type	Score
IKBKG	IKBKB	psi-mi:“MI:0914”(association)	0.980
CEP97	CCP110	psi-mi:“MI:2364”(proximity)	0.950
ATG13	ULK1	psi-mi:“MI:2364”(proximity)	0.940
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
BBS7	BBS9	psi-mi:“MI:0914”(association)	0.860
MLF1	DNAJB6	psi-mi:“MI:0914”(association)	0.750
ORF	EIF3F	psi-mi:“MI:0914”(association)	0.560
CEP104	CCDC66	psi-mi:“MI:2364”(proximity)	0.540
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
DISC1	AP4M1	psi-mi:“MI:0914”(association)	0.530
TFDP3	E2F3	psi-mi:“MI:0914”(association)	0.530
SKP2	DPYSL4	psi-mi:“MI:0914”(association)	0.530
MLF1	NDC80	psi-mi:“MI:0914”(association)	0.530
DYSF	ALMS1	psi-mi:“MI:0403”(colocalization)	0.500
DYSF	ALMS1	psi-mi:“MI:2364”(proximity)	0.500
POC1A	TXNDC9	psi-mi:“MI:0914”(association)	0.480
GSK3B	SEC16A	psi-mi:“MI:2364”(proximity)	0.420
H2AC4	ALMS1	psi-mi:“MI:0915”(physical association)	0.400
ALMS1	GTF2IRD1	psi-mi:“MI:0915”(physical association)	0.370
MEGF10	ALMS1	psi-mi:“MI:0915”(physical association)	0.370
LACC1	FLJ10842	psi-mi:“MI:0914”(association)	0.350
NS1	ESYT2	psi-mi:“MI:0914”(association)	0.350
NS1		psi-mi:“MI:0914”(association)	0.350

BioGRID (214): ALMS1 (Affinity Capture-MS), ALMS1 (Affinity Capture-MS), ALMS1 (Affinity Capture-MS), ALMS1 (Affinity Capture-MS), ALMS1 (Affinity Capture-MS), ALMS1 (Affinity Capture-MS), ALMS1 (Affinity Capture-MS), ALMS1 (Synthetic Growth Defect), ALMS1 (Proximity Label-MS), ALMS1 (Proximity Label-MS), ALMS1 (Proximity Label-MS), ALMS1 (Proximity Label-MS), ALMS1 (Proximity Label-MS), ALMS1 (Proximity Label-MS), ALMS1 (Proximity Label-MS)

ESM2 similar proteins: A0A0P0XCU3, A0A1P8BH59, A1YFC1, A1YGK6, A2T7F2, A6NJ88, B7SY83, F1QU13, F4HXQ7, F4ICX9, F4INW9, F4KCE9, O04251, O81472, O96001, P0CV01, P0CV36, P0CV42, P0CV43, P0CV45, P0CV46, P0CV55, P0CV57, P0CV58, P10322, P16531, P48786, Q0DVU4, Q10P83, Q2EI21, Q3URU2, Q5JY77, Q5QNA6, Q5R7U0, Q5SRN2, Q5U4C1, Q5XPK0, Q6K5K2, Q7T2B3, Q8N3K9

Diamond homologs: D2J0Y4, Q8K4E0, Q8TCU4, Q96M02

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 155 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
Loss of Nlp from mitotic centrosomes	9	15.0×	1e-06
Loss of proteins required for interphase microtubule organization from the centrosome	9	15.0×	1e-06
AURKA Activation by TPX2	9	14.4×	1e-06
Regulation of PLK1 Activity at G2/M Transition	10	13.4×	1e-06
Recruitment of mitotic centrosome proteins and complexes	9	12.9×	2e-06
Recruitment of NuMA to mitotic centrosomes	10	12.3×	1e-06
Anchoring of the basal body to the plasma membrane	10	11.9×	1e-06
Translocation of SLC2A4 (GLUT4) to the plasma membrane	6	9.8×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	8	43.1×	5e-09
centrosome duplication	5	34.4×	8e-05
positive regulation of autophagy	8	12.2×	8e-05
autophagosome assembly	7	11.6×	4e-04
intracellular protein localization	10	7.7×	1e-04
cilium assembly	10	5.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

7452 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	635
Likely pathogenic	297
Uncertain significance	3101
Likely benign	2628
Benign	88

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1033321	NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter)	Pathogenic
1065120	NM_001378454.1(ALMS1):c.11668+1G>A	Pathogenic
1068526	NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter)	Pathogenic
1068901	NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs)	Pathogenic
1069142	NM_001378454.1(ALMS1):c.1910del (p.Pro637fs)	Pathogenic
1069267	NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)	Pathogenic
1070273	NC_000002.11:g.(?73659316)(73659429_?)del	Pathogenic
1070274	NC_000002.11:g.(?73716751)(73747153_?)del	Pathogenic
1070275	NC_000002.11:g.(?73746892)(73762086_?)del	Pathogenic
1070276	NC_000002.11:g.(?73777384)(73800561_?)del	Pathogenic
1070448	NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter)	Pathogenic
1070537	NM_001378454.1(ALMS1):c.149del (p.Ala50fs)	Pathogenic
1070538	NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs)	Pathogenic
1070819	NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter)	Pathogenic
1071197	NM_001378454.1(ALMS1):c.870del (p.Ser290fs)	Pathogenic
1071827	NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter)	Pathogenic
1071882	NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs)	Pathogenic
1071883	NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter)	Pathogenic
1071884	NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)	Pathogenic
1071885	NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)	Pathogenic
1071886	NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs)	Pathogenic
1071887	NM_001378454.1(ALMS1):c.10385-2A>G	Pathogenic
1071888	NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter)	Pathogenic
1072014	NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs)	Pathogenic
1072195	NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter)	Pathogenic
1072503	NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs)	Pathogenic
1072647	NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs)	Pathogenic
1073232	NM_001378454.1(ALMS1):c.638dup (p.Leu214fs)	Pathogenic
1073409	NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter)	Pathogenic
1073658	NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs)	Pathogenic

SpliceAI

4633 predictions. Top by Δscore:

Variant	Effect	Δscore
2:73386189:GAAG:G	donor_gain	1.0000
2:73386191:AGG:A	donor_loss	1.0000
2:73386192:GGT:G	donor_loss	1.0000
2:73386193:G:GC	donor_loss	1.0000
2:73386194:T:G	donor_loss	1.0000
2:73419114:T:G	acceptor_gain	1.0000
2:73419121:A:AG	acceptor_gain	1.0000
2:73419122:G:A	acceptor_loss	1.0000
2:73419122:G:GA	acceptor_gain	1.0000
2:73419122:GA:G	acceptor_gain	1.0000
2:73419122:GAA:G	acceptor_gain	1.0000
2:73419122:GAAA:G	acceptor_gain	1.0000
2:73419122:GAAAA:G	acceptor_gain	1.0000
2:73419276:G:GG	donor_gain	1.0000
2:73419315:C:G	donor_gain	1.0000
2:73419315:CTAG:C	donor_loss	1.0000
2:73419318:GGT:G	donor_loss	1.0000
2:73419319:G:GA	donor_loss	1.0000
2:73422855:A:AG	acceptor_gain	1.0000
2:73422856:G:GG	acceptor_gain	1.0000
2:73422856:GTC:G	acceptor_gain	1.0000
2:73424428:AGG:A	acceptor_gain	1.0000
2:73424429:GGG:G	acceptor_gain	1.0000
2:73424429:GGGGA:G	acceptor_gain	1.0000
2:73519768:T:TA	acceptor_gain	1.0000
2:73519769:G:A	acceptor_gain	1.0000
2:73519773:A:AG	acceptor_gain	1.0000
2:73519773:AG:A	acceptor_loss	1.0000
2:73519774:G:GA	acceptor_gain	1.0000
2:73519774:GA:G	acceptor_gain	1.0000

AlphaMissense

27224 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:73573246:T:C	L3790P	0.996
2:73602212:T:C	F4048L	0.996
2:73602214:C:A	F4048L	0.996
2:73602214:C:G	F4048L	0.996
2:73573257:T:C	F3794L	0.995
2:73573259:T:A	F3794L	0.995
2:73573259:T:G	F3794L	0.995
2:73608489:T:C	L4126P	0.994
2:73602234:G:C	R4055P	0.993
2:73608557:G:C	A4149P	0.993
2:73602192:T:C	L4041P	0.992
2:73602213:T:C	F4048S	0.992
2:73572681:T:A	W3602R	0.991
2:73572681:T:C	W3602R	0.991
2:73602246:T:C	L4059P	0.991
2:73608549:G:C	R4146P	0.991
2:73572763:T:C	L3629P	0.990
2:73602205:A:C	R4045S	0.990
2:73602205:A:T	R4045S	0.990
2:73601203:T:A	W3961R	0.989
2:73601203:T:C	W3961R	0.989
2:73453332:G:C	A2269P	0.988
2:73602188:T:C	S4040P	0.988
2:73602204:G:C	R4045T	0.988
2:73572772:T:C	L3632S	0.987
2:73572763:T:A	L3629H	0.986
2:73602213:T:G	F4048C	0.986
2:73602243:G:C	R4058P	0.986
2:73534937:A:C	S3299R	0.985
2:73534939:C:A	S3299R	0.985

dbSNP variants (sampled 300 via entrez): RS1000010393 (2:73479675 G>C), RS1000011452 (2:73444731 G>C), RS1000017182 (2:73480089 ATTATAC>A), RS1000024872 (2:73513994 TAAAAG>T), RS1000026507 (2:73606505 T>C), RS1000027192 (2:73558261 A>G), RS1000038452 (2:73557955 C>T), RS1000062302 (2:73591630 T>C), RS1000082140 (2:73479478 G>A), RS1000102193 (2:73397888 A>C,G,T), RS1000103545 (2:73438748 CAG>C), RS1000111491 (2:73383892 C>T), RS1000123575 (2:73436247 C>T), RS1000130609 (2:73531945 G>C), RS1000166871 (2:73593466 G>A)

Disease associations

OMIM: gene MIM:606844 | disease phenotypes: MIM:203800, MIM:268000, MIM:204000, MIM:209900, MIM:312080, MIM:108300, MIM:190685, MIM:120970

GenCC curated gene-disease

Disease	Classification	Inheritance
Alstrom syndrome	Definitive	Unknown

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Alstrom syndrome	Definitive	AR

Mondo (17): Alstrom syndrome (MONDO:0008763), inherited retinal dystrophy (MONDO:0019118), hearing loss disorder (MONDO:0005365), retinitis pigmentosa (MONDO:0019200), intellectual disability (MONDO:0001071), Leber congenital amaurosis (MONDO:0018998), optic atrophy (MONDO:0003608), Bardet-Biedl syndrome (MONDO:0015229), monogenic diabetes (MONDO:0015967), primary ovarian failure (MONDO:0005387), end stage renal failure (MONDO:0004375), leukodystrophy (MONDO:0019046), cardiomyopathy (MONDO:0004994), Stickler syndrome (MONDO:0019354), Down syndrome (MONDO:0008608)

Orphanet (13): Alström syndrome (Orphanet:64), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791), Leber congenital amaurosis (Orphanet:65), Bardet-Biedl syndrome (Orphanet:110), Rare genetic diabetes mellitus (Orphanet:183625), Leukodystrophy (Orphanet:68356), Rare cardiomyopathy (Orphanet:167848), Stickler syndrome (Orphanet:828), Down syndrome (Orphanet:870), Cone rod dystrophy (Orphanet:1872), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

144 total (30 of 144 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000009	Functional abnormality of the bladder
HP:0000010	Recurrent urinary tract infections
HP:0000012	Urinary urgency
HP:0000016	Urinary retention
HP:0000020	Urinary incontinence
HP:0000054	Micropenis
HP:0000083	Renal insufficiency
HP:0000099	Glomerulonephritis
HP:0000123	Nephritis
HP:0000147	Polycystic ovaries
HP:0000164	Abnormality of the dentition
HP:0000230	Gingivitis
HP:0000311	Round face
HP:0000388	Otitis media
HP:0000407	Sensorineural hearing impairment
HP:0000408	Progressive sensorineural hearing impairment
HP:0000490	Deeply set eye
HP:0000505	Visual impairment
HP:0000518	Cataract
HP:0000523	Subcapsular cataract
HP:0000543	Optic disc pallor
HP:0000548	Cone/cone-rod dystrophy
HP:0000556	Retinal dystrophy
HP:0000572	Visual loss
HP:0000580	Pigmentary retinopathy
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000729	Autistic behavior

GWAS associations

75 associations (top):

Study	Trait	p-value
GCST000649_14	Chronic kidney disease	5.000000e-14
GCST000651_1	Creatinine levels	1.000000e-15
GCST001220_3	Metabolite levels	1.000000e-11
GCST002119_2	Metabolite levels (X-11787)	1.000000e-23
GCST002364_1	Urinary metabolites (H-NMR features)	6.000000e-17
GCST002364_2	Urinary metabolites (H-NMR features)	5.000000e-161
GCST002364_3	Urinary metabolites (H-NMR features)	1.000000e-17
GCST003372_11	Glomerular filtration rate (creatinine)	8.000000e-20
GCST003401_32	Glomerular filtration rate in non diabetics (creatinine)	3.000000e-16
GCST003790_15	Glomerular filtration rate	5.000000e-12
GCST003790_33	Glomerular filtration rate	3.000000e-08
GCST003993_8	Menarche (age at onset)	2.000000e-08
GCST003994_1	Age at voice drop	1.000000e-08
GCST005316_333	Intelligence (MTAG)	5.000000e-09
GCST005649_7	Urinary metabolite ratios in chronic kidney disease	6.000000e-18
GCST005649_8	Urinary metabolite ratios in chronic kidney disease	7.000000e-18
GCST005649_9	Urinary metabolite ratios in chronic kidney disease	2.000000e-16
GCST005651_2	Urinary metabolite levels in chronic kidney disease	1.000000e-11
GCST006249_11	Serum metabolite levels	1.000000e-149
GCST006249_110	Serum metabolite levels	7.000000e-36
GCST006249_12	Serum metabolite levels	9.000000e-149
GCST006249_13	Serum metabolite levels	1.000000e-77
GCST006249_35	Serum metabolite levels	3.000000e-37
GCST006249_51	Serum metabolite levels	9.000000e-22
GCST006249_52	Serum metabolite levels	5.000000e-11
GCST006249_55	Serum metabolite levels	2.000000e-56
GCST006249_56	Serum metabolite levels	1.000000e-54
GCST006249_62	Serum metabolite levels	7.000000e-24
GCST006249_77	Serum metabolite levels	7.000000e-33
GCST006879_10	Blood metabolite levels	6.000000e-09

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004725	metabolite measurement
EFO:0005276	hydroxy-leucine measurement
EFO:0005116	urinary metabolite measurement
EFO:0004703	age at menarche
EFO:0007888	age at voice drop
EFO:0004337	intelligence
EFO:0004612	high density lipoprotein cholesterol measurement

MeSH disease descriptors (13)

Descriptor	Name	Tree numbers
D056769	Alstrom Syndrome	C10.500.300.099; C10.574.500.495.099; C10.668.829.800.300.099; C11.270.684.249; C16.131.077.245.063; C16.131.666.300.099; C16.320.184.063; C16.320.290.684.249; C16.320.400.375.099
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
D009202	Cardiomyopathies	C14.280.238
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D004314	Down Syndrome	C10.597.606.360.220; C16.131.077.327; C16.131.260.260; C16.320.180.260
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D009404	Nephrotic Syndrome	C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750
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

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	3
Aflatoxin B1	decreases expression	3
Tetrachlorodibenzodioxin	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Tretinoin	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
lead acetate	affects cotreatment, increases expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
decabromobiphenyl ether	decreases expression	1
arsenite	decreases reaction, affects binding	1
zinc protoporphyrin	increases expression, affects cotreatment	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
tamibarotene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	increases expression	1
jinfukang	decreases expression, increases reaction	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1

Cellosaurus cell lines

2 cell lines: 2 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A1DF	FDCHi003-A	Induced pluripotent stem cell	Male
CVCL_A1DG	FDCHi003-A-1	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00205881	PHASE4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	PHASE4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	PHASE4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	PHASE4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	PHASE4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
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
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
NCT01499901	PHASE3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	PHASE3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	PHASE3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	PHASE3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
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]
NCT00013455	PHASE2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	PHASE2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	PHASE2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	PHASE2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	PHASE2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	PHASE2	UNKNOWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925	PHASE2	COMPLETED	Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128	PHASE2	COMPLETED	Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183	PHASE2	RECRUITING	Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773	PHASE2	COMPLETED	Evaluation of the Presence of SENS-401 in the Perilymph
NCT06340633	PHASE2	RECRUITING	SPI-1005 in Adults Receiving Cochlear Implant
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)
NCT00582946	PHASE1	COMPLETED	Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155	PHASE1	WITHDRAWN	Protection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829	PHASE1	UNKNOWN	Hearing Impairment, Cognitive Therapy and Coping
NCT01256229	PHASE1	COMPLETED	Outcomes In Children With Developmental Delay And Deafness
NCT01343394	PHASE1	WITHDRAWN	Safety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607	PHASE1	COMPLETED	Study to Evaluate the Safety and Pharmacokinetics of SPI-1005
NCT02259595	PHASE1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT04041440	PHASE1	COMPLETED	Speech Recognition Training in Children With Hearing Loss
NCT07218913	PHASE1	RECRUITING	Testing the Addition of Pedmark to Cisplatin Chemotherapy for Reducing Drug-Induced Ear Damage in Men With Stage II-III Metastatic Testicular Germ Cell Tumors
NCT03184584	PHASE2/PHASE3	TERMINATED	Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome