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ORPHA:565

Menkes disease

low confidenceDisorder

Also known as: MD · Menkes kinky hair disease · Menkes syndrome

Publications

6,950

Trials

5

Interventional, condition-specific

Researchers

975

Distinct authors in sample

Gene link

ATP7A

Definitive

Readiness

6/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ATP7A

  2. LiteraturePresent

    6,950 matched papers (3,847 in last 10 years) Source

  3. Phenotype characterisedPresent

    83 HPO annotations (e.g. Metaphyseal widening; Hypothermia; Alopecia) Source

  4. Animal modelPresent

    17 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 3 EMA designations (1 FDA orphan-indication approval) — e.g. copper histidinate Source

  6. Interventional trialPresent

    5 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)

83

Associated phenotypes · MONDO:0010651

  • Metaphyseal widening
  • Hypothermia
  • Alopecia
  • Short stature
  • Seizure

Showing 5 of 83 — open Monarch for the full list.

Animal models (Monarch / Alliance)

17

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

4

Designations · 1 with FDA orphan-indication approval

  • FDA copper histidinateMenkes disease · 2012-05-14 · Not FDA Approved for Orphan Indication
  • EMA Elesclomol-copperTreatment of Menkes disease · 22/06/2025 · PositiveEMA designation
  • EMA copper histidinateTreatment of Menkes disease · 21/08/2020 · PositiveEMA designation
  • EMA copper nanocluster conjugated to acetate, histidinate and ascorbateTreatment of Menkes disease · 11/11/2022 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

7

Drugs / clinical candidates · MONDO_0010651

CTD chemicals (MyDisease.info)

4 associated chemicals · 17 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Copper · therapeutic
  • copper histidine · therapeutic
  • copper pyruvaldehyde bis(N(4)-methylthiosemicarbazone) complex · therapeutic
  • Ditiocarb · therapeutic

Pathways: Porphyrin and chlorophyll metabolism; Platinum drug resistance; Ferroptosis; Mineral absorption; Innate Immune System; Immune System; Cellular responses to stress; Detoxification of Reactive Oxygen Species

MyDisease.info · MONDO:0010651

Literature

Is anyone studying this?

6,950

6,950 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,950 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

3,847 in the last 10 years · low confidence

Phrase hits: 3,388 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Kodama H21 papers · 2025

    kodamah2018@gmail.com

    Papers in Europe PMC
  2. 02
    Møller LB7 papers · 2023

    Kennedy Center, Gl. Landevej 7, 2600 Glostrup, Denmark. lbm@kennedy.dk

    Papers in Europe PMC
  3. 03
    Kaler SG6 papers · 2026

    Jerry R. Mendell Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA.

    Papers in Europe PMC
  4. 04
    Fujisawa C5 papers · 2019

    Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Gohil VM5 papers · 2026

    Department of Biochemistry & Biophysics, Texas A&M University, College Station, Texas, USA.

    Papers in Europe PMC
  6. 06
    Hiroki T5 papers · 2019

    Diabetes and Metabolic Disease Research Center, Hidaka Hospital, Takasaki, Japan.

    Papers in Europe PMC
  7. 07
    Horn N5 papers · 2025

    Department of Genetics, Kennedy Centre and Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

    Papers in Europe PMC
  8. 08
    Yagi 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
  9. 09
    Iijima K4 papers · 2016

    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

    Papers in Europe PMC
  10. 10
    Kusunoki 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?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

low confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

5 interventional trials matched after quoted-phrase search and title/condition post-filter.

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.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Menkes disease — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("ATP7A" OR "ATP7A syndrome" OR "ATP7A-related")

Run this search on Europe PMC

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"

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: 5 interventional · 3 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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