Menkes disease
Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency. Characteristic findings include kinky hair, growth failure, and nervous system deterioration. Like all X-linked recessive conditions, Menkes disease is more common in males than in females. The disorder was first described by John Hans Menkes in 1962.
known for
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ATP7A1,2-dimethoxyethaanCopper deficiencyCopper in healthCopper transport diseaseEhlers–Danlos_syndromesElastic fiberElastinHMA domainHuman geneticsHypotoniaIris cystJohn Danks & SonJohn MenkesKinky hair diseaseKinky hair syndromeList of MeSH codes (C10)List of MeSH codes (C16)List of MeSH codes (C17)List of MeSH codes (C18)List of OMIM disorder codesList of diseases (C)List of eponymous diseasesList of genes mutated in cutaneous conditionsList of genetic disordersList of geneticistsList of neurological conditions and disordersList of radiographic findings associated with cutaneous conditionsList of skin conditionsList of syndromesLong bone spursLysyl oxidaseMEDNIK syndromeMNKMenke's diseaseMenke's kinky hair syndromeMenke's syndromeMenkesMenkes' disease
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Menkes disease
Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency. Characteristic findings include kinky hair, growth failure, and nervous system deterioration. Like all X-linked recessive conditions, Menkes disease is more common in males than in females. The disorder was first described by John Hans Menkes in 1962.
has abstract
A doença de Menkes', síndrome ...... mais tarde e são menos graves.
@pt
Choroba Menkesa (choroba kręco ...... pońskiej wynosi 1:2,8 miliona.
@pl
Das Menkes-Syndrom, auch die M ...... b der ersten drei Lebensjahre.
@de
De ziekte van Menkes is een X- ...... am is het kinky hair syndrome.
@nl
El síndrome del cabello acerad ...... i y en la membrana plasmática.
@es
La maladie de Menkès est un tr ...... caractéristique de la maladie.
@fr
La sindrome di Menkes è una ma ...... 'acciaio" (Tricoressi nodosa).
@it
La síndrome de Menkes o síndro ...... us per manifestar la malaltia.
@ca
Menkes disease (MNK), also kno ...... oms emerge later in childhood.
@en
Menkes syndrom eller kinky hai ...... er för att utveckla sjukdomen.
@sv
DiseasesDB
eMedicine subject
neuro
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eMedicine topic
569
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medical cause
MedlinePlus
MeSH ID
OMIM id
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Wikipage page ID
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Wikipage revision ID
1,004,453,762
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caption
causes
Mutations in genes coding for the copper-transport protein ATP7A
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DiseasesDB
eMedicineSubj
neuro
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eMedicineTopic
frequency
ICD
ICDO
?
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MedlinePlus
MeshID
D007706
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name
Menkes disease
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OMIM
Orphanet
synonyms
Trichopoliodystrophy, copper transport disease, steely hair disease, kinky hair disease
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wikiPageUsesTemplate
wordnet_type
subject
hypernym
comment
A doença de Menkes', síndrome ...... mais tarde e são menos graves.
@pt
Choroba Menkesa (choroba kręco ...... genie ATP7A w locus Xq12-q13.
@pl
Das Menkes-Syndrom, auch die M ...... b der ersten drei Lebensjahre.
@de
De ziekte van Menkes is een X- ...... am is het kinky hair syndrome.
@nl
El síndrome del cabello acerad ...... i y en la membrana plasmática.
@es
La maladie de Menkès est un tr ...... caractéristique de la maladie.
@fr
La sindrome di Menkes è una ma ...... 'acciaio" (Tricoressi nodosa).
@it
La síndrome de Menkes o síndro ...... us per manifestar la malaltia.
@ca
Menkes disease (MNK), also kno ...... d by John Hans Menkes in 1962.
@en
Menkes syndrom eller kinky hai ...... er för att utveckla sjukdomen.
@sv
label
Choroba Menkesa
@pl
Doença de Menkes
@pt
Maladie de Menkès
@fr
Menkes disease
@en
Menkes syndrom
@sv
Menkes-Syndrom
@de
Menkes氏症候群
@zh
Sindrome di Menkes
@it
Síndrome de Menkes
@ca
Síndrome del cabello acerado
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sameAs
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name
Menkes disease
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