Menkes disease
Findings
No curated finding names Menkes disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
Definition from the Mondo Disease Ontology (MONDO:0010651), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
65 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlopeciaHPOHP:0001596
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Brittle hairHPOHP:0002299
- 1 of 1 reported patient
- Decreased circulating ceruloplasmin concentrationHPOHP:0010837
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Epileptic spasmHPOHP:0011097
- 1 of 1 reported patient
- Hypopigmentation of the skin
Show the remaining 53
- Aplasia/Hypoplasia of the abdominal wall musculatureHPOHP:0010318
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- HerniaHPOHP:0100790
- Very frequent (80% to 99% of cases)
- Hyperextensible skinHPOHP:0000974
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATP7AHGNC:869
- Definitive · Ambry Genetics · X-linked · 2015
- Definitive · ClinGen · X-linked · 2018
- Definitive · Natera · X-linked recessive · 2022
- Definitive · G2P · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
12 names
Resolves to: Menkes disease
- Also called
- kinky hair diseasekinky hair syndromeMDmenkes disease, X-linked recessiveMenkes kinky hair syndromeMenkes kinky-hair syndromeMenkes syndromeMkMNKsteely hair diseaseTrichopoliodystrophyX-linked copper deficiency