Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy.
|
25172213 |
2015 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While the spectrum of mutations detected in the Atp7a murine gene provides an explanation for at least part of the wide phenotypic variation observed in mottled mutant mice, there is a singular absence of deletions which are associated with a sizeable fraction of human Menkes syndrome cases.
|
9147646 |
1997 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.
|
11936860 |
2001 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
ATPase copper transporting α (ATP7A), also known as Menkes disease protein, is a P-type ATPase that transports copper across cell membranes.
|
31396659 |
2019 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we analyzed changes in the systemic iron metabolism using an animal model of Menkes disease: copper-deficient mosaic mutant mice with dysfunction of the ATP7A copper transporter.
|
25247420 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Collectively, these insights refine our knowledge of the neurology of ATP7A-related copper transport diseases and pave the way for further progress in understanding ATP7A function.
|
21221114 |
2011 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Solution structures of the reduced and Cu(I) bound forms of the first metal binding sequence of ATP7A associated with Menkes disease.
|
16211579 |
2005 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Based on review of X-inactivation patterns in female carriers of other X-linked recessive diseases, our findings imply that substantial expression of a mutant ATP7A at the expense of the normal allele could be associated with neurologic symptoms in female carriers of Menkes disease and its allelic variants, occipital horn syndrome, and ATP7A-related distal motor neuropathy.
|
20497190 |
2011 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis revealed hemizygous deletion mutation of ATP7A previously reported in classical MD.
|
31109608 |
2019 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease is caused by mutations in the copper-transporting P(1B)-type ATPase ATP7A.
|
17989919 |
2008 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene.
|
26239182 |
2015 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a child with classical Menkes disease with a novel ATP7A mutation, intractable seizures, severe hypotonia and developmental delay, hypopigmentation of the skin and hair, and failure to thrive, who was treated with daily subcutaneous copper histidine injections for 2(1/2) years, beginning at 15 months of age.
|
16098018 |
2005 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The phenotype we report represents a further example of this rare genotype-phenotype correlation and highlights the possible occurrence in SMAX3 of autonomic disturbances, as described for Menkes disease and Occipital Horn Syndrome.
|
31558336 |
2019 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Despite the deletion, eliminating the first of six metal-binding domains in ATP7A, no signs for Menkes disease or occipital horn syndrome associated with ATP7A mutations were found in male carriers.
|
26242992 |
2016 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A candidate gene for WD (ATP7B) has recently been identified based upon apparent disease-specific mutations and a striking amino acid homology to the gene (ATP7A) responsible for another human copper transport disorder, X-linked Menkes disease (MNK).
|
7833924 |
1994 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Impaired intestinal transport of copper, resulting from mutations in the ATP7A gene, lead to Menkes disease in humans.
|
12539960 |
2002 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.
|
22695177 |
2012 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease (MD) is caused by mutations in the ATP7A gene.
|
21494555 |
2011 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease is an X-linked copper deficiency disorder that results from mutations in the ATP7A ( MNK ) gene.
|
10332039 |
1999 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In all these patients, an identical missense mutation in the ATP7A gene was found and confirmed Menkes' disease.
|
15238919 |
2004 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Severe ATP7A loss-of-function alleles trigger Menkes disease, a copper deficiency condition where systemic and neurodegenerative phenotypes dominate clinical outcomes.
|
25583185 |
2015 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP7A may cause three distinct X-linked conditions in infants, children, or adolescents: Menkes disease, occipital horn syndrome (OHS), and a newly identified allelic variant restricted to motor neurons called X-linked distal hereditary motor neuropathy.
|
23622398 |
2013 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.
|
20170900 |
2010 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The present data suggests that gross deletion of ATP7A is the disease-causing mutation in 14.9% of the Menkes disease patients.
|
14635105 |
2003 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The nature of the mutation in the brindled mouse is of importance in our understanding of the role of MNK and for devising treatment strategies for Menkes disease.
|
9215672 |
1997 |