X-linked copper transport disorder with kinky hair and neurodegeneration.
- Specialty
- Genetics
- Subspecialty
- Genetics / Metabolic disorders
- Sex & age distribution
- Male: affected, X-linked; Female: carriers; Children: yes, 2–3 months
- Gene(s) involved
- ATP7A
- Alternative names & eponyms
- Kinky hair disease
Etiology & mechanism
ATP7A copper transporter defect.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Menkes syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Cerebral folate deficiency syndrome
developmental regression, hypotonia, seizures
2 shared
Crigler–Najjar syndrome
hypotonia, seizures
2 shared
Leigh syndrome
developmental regression, hypotonia
2 shared
Miller–Dieker syndrome
hypotonia, seizures
2 shared
Potocki–Lupski syndrome
failure to thrive, hypotonia
2 shared
Sotos syndrome
hypotonia, seizures
2 shared
Zellweger syndrome
hypotonia, seizures
1 shared
Action myoclonus–renal failure syndrome
seizures
1 shared
Alcohol withdrawal syndrome
seizures
1 shared
Allan–Herndon–Dudley syndrome
hypotonia
Shares genes with
None.
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