Cutis laxa, x-linked
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Cutis laxa, x-linked
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
|
11241493 |
2001 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
|
9246006 |
1997 |
Cutis laxa, x-linked
|
0.800 |
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 |
Cutis laxa, x-linked
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
|
23281160 |
2013 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As the only causal mutation in Atp7a has been reported in one very mild allele thought to be a model for OHS, Atp7aMo-blo (mottled blotchy), we sequenced the entire 4.5 kb coding region of three other mottled mutants, two of which are thought to be models for classical MD (AtpaMo-br, AtpaMo-13H) and one with a slightly milder phenotype (Atp7aMo-vbr).
|
9147645 |
1997 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
By Southern analysis we detected a small deletion in a region 5' to the MNK gene in one patient with OHS.
|
8923001 |
1996 |
Cutis laxa, x-linked
|
0.800 |
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 |
Cutis laxa, x-linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
|
17496194 |
2007 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Diverse mutations in the gene encoding the copper transporter ATP7A lead to X-linked recessive Menkes disease or occipital horn syndrome.
|
24754450 |
2014 |
Cutis laxa, x-linked
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early development of occipital horns in a classical Menkes patient.
|
15372525 |
2004 |
Cutis laxa, x-linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Furthermore, we report on ultrastructural abnormalities including increased collagen diameter, mild elastic fiber abnormalities and multiple autophagolysosomes reflecting the role of lysyl oxidase and defective ATP7A trafficking as pathomechanisms of OHS.
|
31336972 |
2019 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Investigation of RNA isolated from the fibroblasts of eleven patients with no identified mutations was performed, and revealed inclusion of new pseudo-exons into the ATP7A mRNA from three unrelated patients: two patients with OHS and one patient with classical Menkes disease.
|
24002164 |
2014 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function ATP7A mutations causing systemic Cu deficiency are associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome.
|
27293072 |
2016 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations.
|
21208200 |
2011 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease and occipital horn syndrome (OHS) are allelic neurogenetic disorders of copper transport associated with mutations in an X-linked gene, ATP7A.
|
12537648 |
2002 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease and occipital horn syndrome (OHS) are allelic disorders of copper transport caused by defects in a X-linked gene (ATP7A) that encodes a P-type ATPase that transports copper across cellular membranes, including the trans-Golgi network.
|
12594858 |
2003 |
Cutis laxa, x-linked
|
0.800 |
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 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP7A gene may lead to infantile-onset cerebral degeneration (Menkes disease); occipital horn syndrome (OHS), a related but much milder illness; or an adult-onset isolated distal motor neuropathy.
|
29599289 |
2018 |
Cutis laxa, x-linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding this multitasking molecule are now implicated in at least two other distinctive phenotypes: occipital horn syndrome and ATP7A-related isolated distal motor neuropathy.
|
24735419 |
2014 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Partial ATP7A gene duplication was identified in 20 unrelated patients including one patient with Occipital Horn Syndrome (OHS).
|
22074552 |
2011 |
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with Menkes syndrome are predicted to have little or no MNK activity, whereas patients with occipital horn syndrome have less severe mutations and some residual MNK activity is predicted.
|
9587146 |
1998 |