Occipital horn syndrome

Common Name(s)

Occipital horn syndrome

Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints.  Individuals with OHS are said to have normal or slightly reduced intelligence. This condition is considered to be a mild type of Menkes diseases, which affects copper levels in the body.  Occipital horn syndrome may be caused by mutations in the ATP7A gene, and it is inherited in an x-linked recessive pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Occipital horn syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Occipital horn syndrome" returned 8 free, full-text research articles on human participants. First 3 results:

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
 

Author(s): Saiqa Yasmeen, Katrine Lund, Anne De Paepe, Sylvia De Bie, Arvid Heiberg, João Silva, Márcia Martins, Tina Skjørringe, Lisbeth B Møller

Journal: Eur. J. Hum. Genet.. 2014 Apr;22(4):517-21.

 

Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. Whereas most of the patients exhibit a severe classical form, about 9% of the patients exhibit a milder form of Menkes disease. The mildest form is called occipital horn syndrome (OHS). ...

Last Updated: 13 Mar 2014

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Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
 

Author(s): Anthony Donsante, Jingrong Tang, Sarah C Godwin, Courtney S Holmes, David S Goldstein, Alexander Bassuk, Stephen G Kaler

Journal: J. Med. Genet.. 2007 Aug;44(8):492-7.

 

Pronounced intrafamilial variability is unusual in Menkes disease and its variants. We report two unrelated families featuring affected members with unusually disparate clinical and biochemical phenotypes and explore the underlying molecular mechanisms.

Last Updated: 3 Aug 2007

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A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
 

Author(s): S L Dagenais, A N Adam, J W Innis, T W Glover

Journal: Am. J. Hum. Genet.. 2001 Aug;69(2):420-7.

 

Menkes disease and occipital horn syndrome (OHS) are allelic, X-linked recessive copper-deficiency disorders resulting from mutations in ATP7A, or MNK. Classic Menkes disease has a severe phenotype, with death in early childhood, whereas OHS has a milder phenotype, with, mainly, connective-tissue ...

Last Updated: 13 Jul 2001

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Occipital horn syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
 

Status: Recruiting

Condition Summary: Menkes Disease; Occipital Horn Syndrome; Unexplained Copper Deficiency

 

Last Updated: 30 Jun 2015

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