Disease · MONDO_0010651

Menkes disease

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Menkes disease. Diseases, record MONDO_0010651. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0010651

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: Menkes disease; Open Targets
Open Targets ID: MONDO_0010651; Open Targets
Other names: MD, MNK, Menkes kinky hair syndrome, Menkes syndrome, Mk, Steely hair syndrome, Trichopoliodystrophy, X-linked copper deficiency, kinky hair disease, kinky hair syndrome, menkes disease, X-linked recessive, steely hair disease; Open Targets
Disease Ontology: DOID:1838; Disease Ontology
MeSH: D007706; MeSH
NCI Thesaurus: C75486; NCI Thesaurus
Orphanet: ORPHA:565; Orphanet
Highest stage of its drugs: Approval, for 1 of its 7 drugs, from ClinicalTrials.gov; Open Targets

Drugs7

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
COPPER HISTIDINE	CHEMBL4297731		Approval	ClinicalTrials.gov	5	4	4	Drugs and targets
DROXIDOPA	CHEMBL2103827	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets
RESORCINOL	CHEMBL24147	Small molecule	Preclinical	TTD	34	0	0	Drugs and targets
BENZOIC ACID	CHEMBL541	Small molecule	Preclinical	TTD	6	0	0	Drugs and targets
HYDRAZINE	CHEMBL1237174	Small molecule	Preclinical	TTD	3	0	0	Drugs and targets
THIAZOLIDINE	CHEMBL1916078	Small molecule	Preclinical	TTD	3	0	0	Drugs and targets
BENZIMIDAZOLE	CHEMBL306226	Small molecule	Preclinical	TTD	2	0	0	Drugs and targets

Targets9

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
ADRA1A	Adrenergic receptor	1	Adrenergic receptor agonist	Phase 1/2	https://conductscience.org/library/genes/148	Drugs and targets
ADRA1B	Adrenergic receptor	1	Adrenergic receptor agonist	Phase 1/2	https://conductscience.org/library/genes/147	Drugs and targets
ADRA1D	Adrenergic receptor	1	Adrenergic receptor agonist	Phase 1/2	https://conductscience.org/library/genes/146	Drugs and targets
ADRA2A	Adrenergic receptor	1	Adrenergic receptor agonist	Phase 1/2	https://conductscience.org/library/genes/150	Drugs and targets
ADRA2B	Adrenergic receptor	1	Adrenergic receptor agonist	Phase 1/2	https://conductscience.org/library/genes/151	Drugs and targets
ADRA2C	Adrenergic receptor	1	Adrenergic receptor agonist	Phase 1/2	https://conductscience.org/library/genes/152	Drugs and targets
ADRB1	Adrenergic receptor	1	Adrenergic receptor agonist	Phase 1/2	https://conductscience.org/library/genes/153	Drugs and targets
ADRB2	Adrenergic receptor	1	Adrenergic receptor agonist	Phase 1/2	https://conductscience.org/library/genes/154	Drugs and targets
ADRB3	Adrenergic receptor	1	Adrenergic receptor agonist	Phase 1/2	https://conductscience.org/library/genes/155	Drugs and targets

Trials5

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00001262	Copper Histidine Therapy for Menkes Diseases	Phase 1/2	60	2015-10-30	Kinky Hair Syndrome	COPPER HISTIDINE	Its record names the disease	ClinicalTrials.gov
NCT00811785	Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency	Phase 3	93		Menkes Disease, Occipital Horn Syndrome, Unexplained Copper Deficiency	COPPER HISTIDINE	Its record names the disease	ClinicalTrials.gov
NCT04337684	Long Term Follow-up on Menkes Disease Patients		50		Menkes Disease	COPPER HISTIDINE	Its record names the disease	ClinicalTrials.gov
NCT04977388	NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Occipital Horn Syndrome	Phase 1/2	3		Menkes Disease, Occipital Horn Syndrome	DROXIDOPA	Its record names the disease	ClinicalTrials.gov
NCT04074512	Copper Histidinate Treatment for Menkes Disease				Menkes Disease	COPPER HISTIDINE	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials0

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

None in this release.

Papers from its trials16

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
25281031	RESULT	1	PubMed
22134099	RESULT	1	PubMed
20652413	RESULT	1	PubMed
20497190	RESULT	1	PubMed
19194885	RESULT	1	PubMed
18752978	RESULT	1	PubMed
18256395	RESULT	1	PubMed
17482283	RESULT	1	PubMed
16278898	RESULT	1	PubMed
15923132	RESULT	1	PubMed

1 to 10 of 16

See all 16 papers from its trials

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0010651

GET https://conductscience.org/api/diseases/v1/MONDO_0010651/drugs

API reference For AI assistants