MCID: ATP004
MIFTS: 7

Atp7a-Related Copper Transport Disorders

Aliases & Classifications for Atp7a-Related Copper Transport Disorders

MalaCards integrated aliases for Atp7a-Related Copper Transport Disorders:

Name: Atp7a-Related Copper Transport Disorders 24

Summaries for Atp7a-Related Copper Transport Disorders

MalaCards based summary : Atp7a-Related Copper Transport Disorders is related to spinal muscular atrophy, distal, x-linked 3 and occipital horn syndrome. An important gene associated with Atp7a-Related Copper Transport Disorders is ATP7A (ATPase Copper Transporting Alpha).

GeneReviews: NBK1413

Related Diseases for Atp7a-Related Copper Transport Disorders

Diseases related to Atp7a-Related Copper Transport Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, x-linked 3 10.2
2 occipital horn syndrome 10.2
3 menkes disease 10.2
4 inguinal hernia 10.2
5 charcot-marie-tooth disease 10.2
6 tooth disease 10.2
7 hypoglycemia 10.2
8 hypotonia 10.2

Graphical network of the top 20 diseases related to Atp7a-Related Copper Transport Disorders:



Diseases related to Atp7a-Related Copper Transport Disorders

Symptoms & Phenotypes for Atp7a-Related Copper Transport Disorders

Drugs & Therapeutics for Atp7a-Related Copper Transport Disorders

Search Clinical Trials , NIH Clinical Center for Atp7a-Related Copper Transport Disorders

Genetic Tests for Atp7a-Related Copper Transport Disorders

Anatomical Context for Atp7a-Related Copper Transport Disorders

Publications for Atp7a-Related Copper Transport Disorders

Articles related to Atp7a-Related Copper Transport Disorders:

(show all 13)
# Title Authors PMID Year
1
ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. 4
21878905 2011
2
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. 4
20497190 2011
3
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. 4
20652413 2010
4
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 4
20170900 2010
5
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. 4
19153371 2009
6
Neonatal diagnosis and treatment of Menkes disease. 4
18256395 2008
7
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. 4
17496194 2007
8
Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family. 4
15238919 2004
9
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. 4
14635105 2003
10
Early copper therapy in classic Menkes disease patients with a novel splicing mutation. 4
8526465 1995
11
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. 4
7842019 1994
12
Ectodermal manifestations in Menkes disease. 4
4075564 1985
13
ATP7A-Related Copper Transport Disorders 38
20301586 2003

Variations for Atp7a-Related Copper Transport Disorders

Expression for Atp7a-Related Copper Transport Disorders

Search GEO for disease gene expression data for Atp7a-Related Copper Transport Disorders.

Pathways for Atp7a-Related Copper Transport Disorders

GO Terms for Atp7a-Related Copper Transport Disorders

Sources for Atp7a-Related Copper Transport Disorders

3 CDC
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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