loading...| Preferred Name | Menkes disease | |
| Synonyms |
MNKD |
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| Definitions |
(MNKD) - An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances - focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate. |
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| ID |
http://identifiers.org/omim/309400 |
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| altLabel |
MNKD |
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| definition |
(MNKD) - An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances - focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate. |
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| id |
OMIM:309400 |
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| notation |
OMIM:309400 |
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| prefLabel |
Menkes disease |
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| subClassOf |