ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small σ subunit of the AP-1 complex.
|
31630791 |
2019 |
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.
|
30244301 |
2018 |
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MEDNIK syndrome is caused by mutation of the AP1S1 gene, which codes for the σ1A subunit of adaptor protein complex 1, and directs intracellular trafficking of copper pumps ATP7A and ATP7B.
|
24754424 |
2014 |
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
|
0.750 |
Biomarker
|
disease |
BEFREE |
AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.
|
24754424 |
2014 |
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
|
0.750 |
Biomarker
|
disease |
CTD_human |
We solved the pathogenetic mechanism of MEDNIK syndrome, demonstrating that AP1S1 regulates intracellular copper machinery mediated by copper-pump proteins.
|
23423674 |
2013 |
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We solved the pathogenetic mechanism of MEDNIK syndrome, demonstrating that AP1S1 regulates intracellular copper machinery mediated by copper-pump proteins.
|
23423674 |
2013 |
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
|
0.750 |
Biomarker
|
disease |
BEFREE |
Together, these results confirm AP1S1 as the gene responsible for MEDNIK syndrome and demonstrate a critical role of AP1S1 in development of the skin and spinal cord.
|
19057675 |
2008 |
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Together, these results confirm AP1S1 as the gene responsible for MEDNIK syndrome and demonstrate a critical role of AP1S1 in development of the skin and spinal cord.
|
19057675 |
2008 |
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Together, these results confirm AP1S1 as the gene responsible for MEDNIK syndrome and demonstrate a critical role of AP1S1 in development of the skin and spinal cord.
|
19057675 |
2008 |
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Erythrokeratodermia variabilis 3 (Kamouraska type) or EKV3 is a newly described autosomal recessive disorder observed in patients from the Bas St-Laurent region of Quebec.
|
15668823 |
2005 |
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Intrahepatic Cholestasis
|
0.400 |
Biomarker
|
disease |
CTD_human |
A Sephardic-Jewish patient, carrying a new AP1S1 homozygous mutation, showed severe perturbations of copper metabolism with hypocupremia, hypoceruloplasminemia and liver copper accumulation, along with intrahepatic cholestasis.
|
23423674 |
2013 |
Intrahepatic Cholestasis
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Lipoidosis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Determination of phospholipidosis potential based on gene expression analysis in HepG2 cells.
|
17175557 |
2007 |
Intellectual Disability
|
0.110 |
Biomarker
|
group |
BEFREE |
MEDNIK (mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia) syndrome has been recently described as a new disorder of copper metabolism.
|
24754424 |
2014 |
Ichthyoses
|
0.110 |
Biomarker
|
disease |
BEFREE |
EKV3 is also characterized by ichthyosis, sensorineural hearing loss, peripheral neuropathy, psychomotor retardation, congenital chronic diarrhea, and an elevation of very long chain fatty acids (VLCFAs).
|
15668823 |
2005 |
Ichthyoses
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Intellectual Disability
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
Cholestasis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Diarrhea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Erythema
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
High forehead
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Fibrosis, Liver
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|