Wilson disease

Summary

Wilson disease (MONDO:0010200) is a disease caused by ATP7B (GenCC Definitive), with 5 cohort genes and 67 clinical trials. Top therapeutic interventions include trientine, penicillamine, and zinc acetate anhydrous.

At a glance

• Prevalence: 1-9 / 100 000 (Worldwide) [Orphanet-validated]
• Causal gene: ATP7B (GenCC Definitive)
• Cohort genes: 5
• ClinVar variants: 3,427
• Phenotypes (HPO): 57
• Clinical trials: 67

Clinical features

Epidemiology

Prevalence records

13 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	2.02	Worldwide	Validated
Prevalence at birth	1-9 / 100 000	2.25	Worldwide	Validated
Point prevalence	1-9 / 100 000	6	Europe	Validated
Annual incidence	1-9 / 1 000 000	0.016	Finland	Validated
Point prevalence	1-9 / 100 000	1.5	France	Validated
Point prevalence	1-5 / 10 000	10	China	Validated
Point prevalence	1-5 / 10 000	37.04	Specific population	Validated
Point prevalence	1-9 / 1 000 000	0.45	Finland	Validated
Prevalence at birth	1-9 / 1 000 000	0.94	Italy	Validated
Prevalence at birth	1-5 / 10 000	3	Japan	Validated
Prevalence at birth	1-5 / 10 000	13.5	Specific population	Validated
Prevalence at birth	1-9 / 100 000	1.37	Ireland	Validated
Prevalence at birth	1-9 / 100 000	2.9	Germany	Validated

Signs & symptoms

Clinical features (HPO)

57 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0001288	Gait disturbance	Very frequent (80-99%)
HP:5200321	Amplification of sexual behavior	Very frequent (80-99%)
HP:0000140	Abnormality of the menstrual cycle	Very frequent (80-99%)
HP:0000716	Depression	Very frequent (80-99%)
HP:0000718	Aggressive behavior	Very frequent (80-99%)
HP:0000952	Jaundice	Very frequent (80-99%)
HP:0000978	Bruising susceptibility	Very frequent (80-99%)
HP:0000989	Pruritus	Very frequent (80-99%)
HP:0001155	Abnormality of the hand	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001260	Dysarthria	Very frequent (80-99%)
HP:0001369	Arthritis	Very frequent (80-99%)
HP:0001386	Joint swelling	Very frequent (80-99%)
HP:0001394	Cirrhosis	Very frequent (80-99%)
HP:0001397	Hepatic steatosis	Very frequent (80-99%)
HP:0001508	Failure to thrive	Very frequent (80-99%)
HP:0001744	Splenomegaly	Very frequent (80-99%)
HP:0001824	Weight loss	Very frequent (80-99%)
HP:0001873	Thrombocytopenia	Very frequent (80-99%)
HP:0001903	Anemia	Very frequent (80-99%)
HP:0002240	Hepatomegaly	Very frequent (80-99%)
HP:0002312	Clumsiness	Very frequent (80-99%)
HP:0002653	Bone pain	Very frequent (80-99%)
HP:0002756	Pathologic fracture	Very frequent (80-99%)
HP:0002829	Arthralgia	Very frequent (80-99%)
HP:0002910	Elevated circulating hepatic transaminase concentration	Very frequent (80-99%)
HP:0003418	Back pain	Very frequent (80-99%)
HP:0004324	Increased body weight	Very frequent (80-99%)
HP:0006554	Acute hepatic failure	Very frequent (80-99%)
HP:0008994	Proximal muscle weakness in lower limbs	Very frequent (80-99%)
HP:0012115	Hepatitis	Very frequent (80-99%)
HP:0200032	Kayser-Fleischer ring	Very frequent (80-99%)
HP:0200119	Acute hepatitis	Very frequent (80-99%)
HP:0000751	Personality changes	Frequent (30-79%)
HP:0000939	Osteoporosis	Frequent (30-79%)
HP:0001288	Gait disturbance	Frequent (30-79%)
HP:0001332	Dystonia	Frequent (30-79%)
HP:0001337	Tremor	Frequent (30-79%)
HP:0001878	Hemolytic anemia	Frequent (30-79%)
HP:0002072	Chorea	Frequent (30-79%)
HP:0010837	Decreased circulating ceruloplasmin concentration	Frequent (30-79%)
HP:0000709	Psychosis	Occasional (5-29%)
HP:0000738	Hallucinations	Occasional (5-29%)
HP:0000739	Anxiety	Occasional (5-29%)
HP:0000787	Nephrolithiasis	Occasional (5-29%)
HP:0000789	Infertility	Occasional (5-29%)
HP:0000829	Hypoparathyroidism	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001541	Ascites	Occasional (5-29%)
HP:0001733	Pancreatitis	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Wilson disease
Mondo ID	MONDO:0010200
MeSH	D006527
OMIM	277900
Orphanet	905
DOID	DOID:893
ICD-10-CM	E83.01
ICD-11	468161208
NCIT	C84756
SNOMED CT	88518009
UMLS	C0019202
MedGen	42426
GARD	0007893
MedDRA	10019819
NORD	1856
Is cancer (heuristic)	no

Also known as: hepatolenticular degeneration · WD · Westphal-Strumpell syndrome · Wilson disease · Wilson’s disease

Data availability: 3,427 ClinVar variants · 4 GenCC gene-disease records · 52 cell lines.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn metal metabolism disorder › Wilson disease

Related subtypes (8): familial periodic paralysis, hereditary hemochromatosis, acrodermatitis enteropathica, atransferrinemia, Menkes disease, familial primary hypomagnesemia, pseudohypoparathyroidism, sulfite oxidase deficiency due to molybdenum cofactor deficiency

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

268 likely benign, 118 uncertain significance, 72 pathogenic, 55 conflicting classifications of pathogenicity, 39 likely pathogenic, 39 pathogenic/likely pathogenic, 8 benign/likely benign, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1073825	NC_000013.10:g.(?52585403)(52602726_?)del	ALG11	Pathogenic	criteria provided, single submitter
1068802	NM_000053.4(ATP7B):c.3071_3072del (p.Val1024fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1069301	NM_000053.4(ATP7B):c.3904-2del	ATP7B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1069397	NM_000053.4(ATP7B):c.51dup	ATP7B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1069463	NM_000053.4(ATP7B):c.2589del (p.Val864fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1069714	NM_000053.4(ATP7B):c.2510del (p.Gly837fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1069715	NM_000053.4(ATP7B):c.1746dup (p.Glu583fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1069716	NM_000053.4(ATP7B):c.2447+5G>A	ATP7B	Pathogenic	criteria provided, single submitter
1069926	NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1071568	NM_000053.4(ATP7B):c.4374_4375del (p.Arg1459fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1072000	NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1072277	NM_000053.4(ATP7B):c.2866-2A>C	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1073036	NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter)	ATP7B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073155	NM_000053.4(ATP7B):c.465_466insCCTGTGCA (p.Ser156fs)	ATP7B	Pathogenic	criteria provided, single submitter
1073713	NM_000053.4(ATP7B):c.1107_1108dup (p.Cys370fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1073826	NC_000013.10:g.(?_52548990)_52552030del	ATP7B	Pathogenic	criteria provided, single submitter
1073995	NM_000053.4(ATP7B):c.92dup (p.Ala32fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1075643	NM_000053.4(ATP7B):c.3140del (p.Asp1047fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1075644	NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)	ATP7B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075646	NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)	ATP7B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075647	NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr)	ATP7B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1162210	NM_000053.4(ATP7B):c.1869+2T>C	ATP7B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1162212	NM_000053.4(ATP7B):c.1705_1707+10del	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1162213	NM_000053.4(ATP7B):c.2356-2A>G	ATP7B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1162217	NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter)	ATP7B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1162218	NM_000053.4(ATP7B):c.122del (p.Asn41fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1162219	NM_000053.4(ATP7B):c.379del (p.Glu127fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1162220	NM_000053.4(ATP7B):c.560_561del (p.Tyr187fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1162221	NM_000053.4(ATP7B):c.1136del (p.Gly379fs)	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts
1162222	NM_000053.4(ATP7B):c.1286-2A>G	ATP7B	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
ATP7B	Definitive	Autosomal recessive	Wilson disease	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ATP7B	Orphanet:905	Wilson disease
SASH1	Orphanet:231040	Familial generalized lentiginosis
SASH1	Orphanet:447961	Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
CYP11A1	Orphanet:168558	46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
CYP11A1	Orphanet:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
ALG11	Orphanet:280071	ALG11-CDG

Cohort genes → proteins

5 cohort genes, 5 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ATP7B	HGNC:870	ENSG00000123191	P35670	Copper-transporting ATPase 2	gencc,clinvar
SASH1	HGNC:19182	ENSG00000111961	O94885	SAM and SH3 domain-containing protein 1	clinvar
CYP11A1	HGNC:2590	ENSG00000140459	P05108	Cholesterol side-chain cleavage enzyme, mitochondrial	clinvar
TMEM272	HGNC:26737	ENSG00000281106	A0A1B0GTI8	Transmembrane protein 272	clinvar
ALG11	HGNC:32456	ENSG00000253710	Q2TAA5	GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ATP7B	Copper-transporting ATPase 2	Copper ion transmembrane transporter involved in the export of copper out of the cells.
SASH1	SAM and SH3 domain-containing protein 1	Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation.
CYP11A1	Cholesterol side-chain cleavage enzyme, mitochondrial	A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones.
ALG11	GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase	GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation.

Protein-family classification

Druggable: 2 · Difficult: 2 · Unknown: 1 · Druggable fraction: 0.4

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Enzyme (other)	2	4.8×	0.171
Transcription factor	2	3.3×	0.171
Other/Unknown	1	0.4×	0.983

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ATP7B	Transcription factor	no	7.2.2.8	P_typ_ATPase, HMA_dom, HMA_Cu_ion-bd
SASH1	Transcription factor	no		SH3_domain, SAM, SAM/pointed_sf
CYP11A1	Enzyme (other)	yes	1.14.15.6	Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
TMEM272	Other/Unknown	no		TMEM272
ALG11	Enzyme (other)	yes	2.4.1.131	Glyco_trans_1, ALG11_N, ALG11

Expression context

Cohort genes with no expression data: 0.

4 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	5
unknown	0

Top tissues across cohort

Tissue	Cohort genes
adrenal tissue	2
nasal cavity epithelium	1
nasal cavity mucosa	1
right testis	1
lateral globus pallidus	1
skin of hip	1
synovial joint	1
right adrenal gland	1
right adrenal gland cortex	1
male germ line stem cell (sensu Vertebrata) in testis	1
nucleus accumbens	1
putamen	1
calcaneal tendon	1
islet of Langerhans	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ATP7B	205	ubiquitous	marker	nasal cavity epithelium, right testis, nasal cavity mucosa
SASH1	293	ubiquitous	marker	synovial joint, lateral globus pallidus, skin of hip
CYP11A1	136	broad	marker	adrenal tissue, right adrenal gland, right adrenal gland cortex
TMEM272	95	tissue_specific	yes	nucleus accumbens, male germ line stem cell (sensu Vertebrata) in testis, putamen
ALG11	134	ubiquitous	marker	islet of Langerhans, calcaneal tendon, adrenal tissue

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ATP7B	2,536
ALG11	2,224
CYP11A1	2,123
SASH1	879
TMEM272	454

Structural data

PDB: 3 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ATP7B	P35670	13
CYP11A1	P05108	4
SASH1	O94885	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ALG11	Q2TAA5	91.40
TMEM272	A0A1B0GTI8	82.55

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 15. Enrichment computed across 5 evidence-associated genes (3 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective ALG11 causes CDG-1p	1	3806.7×	0.004	ALG11
Defective CYP11A1 causes AICSR	1	761.3×	0.010	CYP11A1
Pregnenolone biosynthesis	1	271.9×	0.018	CYP11A1
Diseases associated with N-glycosylation of proteins	1	211.5×	0.018	ALG11
Endogenous sterols	1	131.3×	0.023	CYP11A1
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	1	69.2×	0.031	ALG11
Ion transport by P-type ATPases	1	69.2×	0.031	ATP7B
Diseases of glycosylation	1	43.8×	0.043	ALG11
Ion channel transport	1	32.0×	0.052	ATP7B
Diseases of metabolism	1	26.8×	0.055	ALG11
Asparagine N-linked glycosylation	1	20.0×	0.067	ALG11
Transport of small molecules	1	8.4×	0.143	ATP7B
Post-translational protein modification	1	6.4×	0.171	ALG11
Disease	1	4.4×	0.223	ALG11
Metabolism of proteins	1	4.1×	0.223	ALG11

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
steroid hormone biosynthetic process	1	4213.0×	0.003	CYP11A1
regulation of protein K63-linked ubiquitination	1	4213.0×	0.003	SASH1
regulation of protein autoubiquitination	1	4213.0×	0.003	SASH1
copper ion export	1	1404.3×	0.006	ATP7B
obsolete sequestering of calcium ion	1	842.6×	0.006	ATP7B
regulation of epithelial cell migration	1	702.2×	0.006	SASH1
cortisol metabolic process	1	702.2×	0.006	CYP11A1
viral translational frameshifting	1	702.2×	0.006	ATP7B
copper ion import	1	601.9×	0.006	ATP7B
C21-steroid hormone biosynthetic process	1	468.1×	0.006	CYP11A1
copper ion transport	1	421.3×	0.006	ATP7B
glucocorticoid biosynthetic process	1	383.0×	0.006	CYP11A1
positive regulation of lipopolysaccharide-mediated signaling pathway	1	383.0×	0.006	SASH1
vitamin D metabolic process	1	383.0×	0.006	CYP11A1
response to copper ion	1	383.0×	0.006	ATP7B
positive regulation of JUN kinase activity	1	324.1×	0.006	SASH1
xenobiotic detoxification by transmembrane export across the plasma membrane	1	280.9×	0.007	ATP7B
intracellular copper ion homeostasis	1	234.1×	0.007	ATP7B
dolichol-linked oligosaccharide biosynthetic process	1	210.7×	0.007	ALG11
sterol metabolic process	1	210.7×	0.007	CYP11A1
cellular response to peptide hormone stimulus	1	210.7×	0.007	CYP11A1
positive regulation of p38MAPK cascade	1	156.0×	0.010	SASH1
intracellular zinc ion homeostasis	1	120.4×	0.012	ATP7B
lactation	1	105.3×	0.013	ATP7B
protein N-linked glycosylation	1	65.8×	0.019	ALG11
positive regulation of non-canonical NF-kappaB signal transduction	1	63.8×	0.019	SASH1
positive regulation of endothelial cell migration	1	62.9×	0.019	SASH1
monoatomic ion transmembrane transport	1	52.0×	0.022	ATP7B
cholesterol metabolic process	1	49.0×	0.023	CYP11A1
protein maturation	1	40.9×	0.026	ATP7B

Therapeutics

Drugs indicated for this disease

1 approved, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Penicillamine	Approved (phase 4)
Tiomolibdate Choline	Phase 3 (in late-stage trials)
Trientine	Phase 3 (in late-stage trials)
Zinc Acetate Anhydrous	Phase 3 (in late-stage trials)

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 4

Druggability breadth: 1 of 5 evidence-associated genes (20%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
CYP11A1	AMINOGLUTETHIMIDE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CYP11A1	1	4
ATP7B	0	0
SASH1	0	0
TMEM272	0	0
ALG11	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
AMINOGLUTETHIMIDE	4	CYP11A1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
CYP11A1	1	Functional:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ATP7B	7.2.2.8, 7.2.2.9	P-type Cu+ transporter, P-type Cu2+ transporter
CYP11A1	1.14.15.6	cholesterol monooxygenase (side-chain-cleaving)
ALG11	2.4.1.131	GDP-Man:Man3GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase

Pharmacogenomics

Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

1 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
AMINOGLUTETHIMIDE	4	CYP11A1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	CYP11A1
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	ALG11
E	Difficult family or no structure, no drug	3	ATP7B, SASH1, TMEM272

Undrugged target profiles

4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
ATP7B	0	—
SASH1	0	—
TMEM272	0	—
ALG11	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 67.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	44
PHASE3	6
PHASE1	5
PHASE2	4
PHASE4	3
PHASE1/PHASE2	3
EARLY_PHASE1	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00004338	PHASE4	COMPLETED	Study of Zinc for Wilson Disease
NCT02426905	PHASE4	UNKNOWN	Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine
NCT05305872	PHASE4	UNKNOWN	Gandouling in the Treatment of Wilson’s Disease
NCT07465718	PHASE3	NOT_YET_RECRUITING	Trientine Tetrahydrochloride Administered Once a Day for the First Line Treatment of Wilson’s Disease Patients.
NCT00004339	PHASE3	COMPLETED	Study of Tetrathiomolybdate in Patients With Wilson Disease
NCT00212355	PHASE3	COMPLETED	Efficacy and Safety, Long-term Study of Zinc Acetate to Treat Wilson’s Disease in Japan.
NCT03403205	PHASE3	TERMINATED	Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease
NCT03539952	PHASE3	COMPLETED	Trientine Tetrahydrochloride (TETA 4HCL) for the Treatment of Wilson’s Disease
NCT05047523	PHASE3	TERMINATED	Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease
NCT04537377	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Phase I/II Study of VTX-801 in Adult Patients With Wilson’s Disease
NCT04884815	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease
NCT07173933	PHASE1/PHASE2	NOT_YET_RECRUITING	Phase I/II Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC310 Injection in Patients With Wilson’s Disease (WD)
NCT02273596	PHASE2	COMPLETED	Efficacy and Safety Study of WTX101 (ALXN1840) in Adult Wilson Disease Patients
NCT04422431	PHASE2	COMPLETED	Copper Concentration & Histopathologic Changes in Liver Biopsy in Participants With Wilson Disease Treated With ALXN1840
NCT04573309	PHASE2	COMPLETED	Copper and Molybdenum Balance in Participants With Wilson Disease Treated With ALXN1840
NCT07010575	PHASE2	COMPLETED	Patient Preference Study: Standard of Care Versus Once-daily Trientine Tetrahydrochloride
NCT01874028	PHASE1	COMPLETED	A Phase 1 Study to Assess the Effects in the Body of a Single Dose of Trientine Dihydrochloride in Wilson’s Disease Patients
NCT04526197	PHASE1	COMPLETED	Phase 1 Study of ALXN1840 on the Metabolism of a CYP2C9 Substrate in Healthy Participants.
NCT04526210	PHASE1	COMPLETED	Study of ALXN1840 on the Metabolism of a CYP2B6 Substrate in Healthy Participants
NCT05641311	PHASE1	COMPLETED	Pharmacokinetic Study of Oral ALXN1840 in Japanese and Non-Japanese Adult Healthy Participants
NCT06128954	PHASE1	COMPLETED	Study Comparing Once Daily Dose of 900mg of TETA 4HCL Against Cuprior® (450mg Trientine Base, Twice Daily).
NCT06650319	EARLY_PHASE1	RECRUITING	A Clinical Study to Evaluate the Safety and Efficacy of LY-M003 Injection in Patients With Wilson Disease
NCT03957720	EARLY_PHASE1	UNKNOWN	The Individual Therapy for Patients With Wilson’s Disease
NCT02252380	Not specified	ACTIVE_NOT_RECRUITING	ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders
NCT03334292	Not specified	RECRUITING	Natural History of Wilson Disease
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04012658	Not specified	RECRUITING	A Registered Cohort Study on Wilson’s Disease
NCT04965545	Not specified	RECRUITING	Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
NCT05183165	Not specified	RECRUITING	Description of the Copper Concentration in Breast Milk in Women Treated for Wilson’s Disease
NCT05231876	Not specified	RECRUITING	French Wilson Disease Registry
NCT05239858	Not specified	RECRUITING	International Wilson’s Disease Patient Registry (iWilson Registry)
NCT05444127	Not specified	RECRUITING	Oral Health and Wilson’s Disease: SOMAWI
NCT05493605	Not specified	RECRUITING	Cardiac Involvement in Wilson’s Disease
NCT06051734	Not specified	NOT_YET_RECRUITING	Early Detection of Cardiac Affection in Patients of Wilson’s Disease
NCT06430359	Not specified	RECRUITING	Circadian Variation of Urinary Copper Excretion in Wilson Disease Patients
NCT06466291	Not specified	RECRUITING	Spanish Wilson Disease Registry
NCT06573723	Not specified	RECRUITING	Institutional Registry of Rare Diseases
NCT06663878	Not specified	NOT_YET_RECRUITING	An Exploratory Study to Evaluate the Tolerability and Safety of MWAV201 in Subjects With Wilson Disease
NCT06698991	Not specified	NOT_YET_RECRUITING	Daily Versus Alternate Day Plasma Exchange in Wilson Disease With Acute Liver Failure in Children
NCT06945081	Not specified	RECRUITING	Wilson’s Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TRIENTINE	4	4
PENICILLAMINE	4	3
ZINC ACETATE ANHYDROUS	4	3
CELECOXIB	4	1
SUCCIMER	4	1
TIOMOLIBDATE CHOLINE	3	9
ZINC GLUCONATE	3	1
NIMATPAGENE PARIPARVOVEC	2	1
RIVUNATPAGENE MIZIPARVOVEC	2	1
CHEMBL1569746	0	1