ORPHA:565
Menkes disease
Also known as: MD · Menkes kinky hair disease · Menkes syndrome
Publications
3,388
Trials
6
Interventional, condition-specific
Researchers
975
Distinct authors in sample
Gene link
ATP7A
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010651
- MeSH:D007706
- OMIM:309400
- UMLS:C0022716
- NCIT:C75486
Additional Mondo synonyms (10)
MNK · Menkes kinky hair syndrome · Menkes kinky-hair syndrome · Mk · Trichopoliodystrophy · X-linked copper deficiency · kinky hair disease · kinky hair syndrome · menkes disease, X-linked recessive · steely hair disease
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ATP7A
- LiteraturePresent
3,388 matched papers (1,284 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
6 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (ATP7A).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
3,388
3,388 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
3,388 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1,284 in the last 10 years · low confidence
Phrase hits: 3,388 · MeSH hits: 0
Who's working on it?
975
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01
- 02Møller LB7 papers · 2023
Kennedy Center, Gl. Landevej 7, 2600 Glostrup, Denmark. lbm@kennedy.dk
Papers in Europe PMC - 03Kaler SG6 papers · 2026
Jerry R. Mendell Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA.
Papers in Europe PMC - 04Fujisawa C5 papers · 2019
Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.
Papers in Europe PMC - 05Gohil VM5 papers · 2026
Department of Biochemistry & Biophysics, Texas A&M University, College Station, Texas, USA.
Papers in Europe PMC - 06Hiroki T5 papers · 2019
Diabetes and Metabolic Disease Research Center, Hidaka Hospital, Takasaki, Japan.
Papers in Europe PMC - 07Horn N5 papers · 2025
Department of Genetics, Kennedy Centre and Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Papers in Europe PMC - 08Yagi M5 papers · 2016
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Pediatrics, Nikoniko House Medical and Welfare Center, Kobe, Japan. Electronic address: marikoyagi.sgt@gmail.com.
Papers in Europe PMC - 09Iijima K4 papers · 2016
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 10Kusunoki N4 papers · 2016
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
6
interventional trials for this specific condition
6 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).
low confidence · 89th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
6 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07398508·RECRUITING·NORTHERA (DROXIDOPA) for Dysautonomia in Pediatric Survivors of Menkes Disease
Conditions: Menkes Disease·Matched via name phrase
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Menkes disease" OR "Menkes kinky hair disease" OR "Menkes syndrome" OR "Menkes kinky hair syndrome" OR "Menkes kinky-hair syndrome" OR "Trichopoliodystrophy" OR "X-linked copper deficiency" OR "kinky hair disease" OR "kinky hair syndrome" OR "menkes disease, X-linked recessive" OR "steely hair disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Menkes disease" OR "Menkes kinky hair disease" OR "Menkes syndrome" OR "Menkes kinky hair syndrome" OR "Menkes kinky-hair syndrome" OR "Trichopoliodystrophy" OR "X-linked copper deficiency" OR "kinky hair disease" OR "kinky hair syndrome" OR "menkes disease, X-linked recessive" OR "steely hair disease" OR "ATP7A"
Recall-expansion terms: ATP7A
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 6 interventional · 3 observational · 1 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MD; MNK; Mk
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 3 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T14:21:57.416Z