Wieacker-Wolff Syndrome Resources

For those interested in our resource list, I’ve decided to put it all together in a blog post. Some of it seems redundant, but there are little things that are unique to each one and some are just easier to read than others.

MISC DISABILITY

WWW.CTDINSTITUTE.ORG

Center on Technology and Disability

Information on assistive technology for students; free webinars; resource library for parents of disabled students; if you create an account you can access classes; they also have a YouTube channel (linked at the bottom of their page)

http:/parentingspecialneeds.org

“Sharing information and inspiration”

An online magazine and website with special needs parenting information

www.amcsupport.org

Support and information about arthrogryposis multiplex congenita (congenital joint contractures)

www.211.org

Phone number and website (United States). Resources for information and assistance in a wide range of catagories, including: Disaster assistance, Housing/Utilities, Health, Food, Crisis, Jobs, etc

GENETICS / RARE DISEASE

www.eurordis.org

Information and educational materials relevant to rare disease

www.geneticalliance.org

Information on advocacy and understanding genetics and genetic conditions on their website, their YouTube channel, online publications, and webinars

www.geneticandrarediseasenetwork.org/au

In Western Australia, information and resources for advocacy and understanding genetic conditions and rare disease; resources for families, caregivers, and healthcare professionals

www.genome.gov

Genomics news and information for patients, students, and professionals

www.globalgenes.org

“We build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their disease.”

http://www.ncats.nih.gov/grdr

Discusses development of a centralized data hub for rare disease. Includes explanation of their terminology and a FAQ section

www.orpha.net

Lots of rare disease and orphan drug resources, information, and directories

www.rareconnect.org

A collection of rare-disease communities. WWS not yet included

www.rarediseaseday.org and

www.rarediseaseday.us

For rare disease advocacy and awareness; includes resource page for videos, fact sheets, handouts, social media content, etc

https://rarediseases.info.nih.gov

Genetics and rare disease resources, support, and research information

www.rarediseases.org

Rare disease database, advocacy resources, news

www.rarediseasesnetwork.org

Information on research, advocacy

http://rarediseaseunited.org

Rare Disease United Foundation

Genetics and rare disease advocacy and resources

www.raredr.com

Rare Disease Report

Genetics and rare disease news through publications, newsletter, on-website, YouTube

http://raregenomics.org/how-we-can-help

Assists with obtaining genomic sequencing and scientific consulting; on-website podcasts about genetics and rare disease

www.irdirc.org

International Rare Diseases Research Consortium

Rare disease research projects and clinical trials

UNDIAGNOSED

www.genome.gov/27544402

The national Institutes of Health (NIH) Undiagnosed Diseases Program (UDP)

Undiagnosed patients may apply to participate in clinical research program

http://inod.org

“In Need Of Diagnosis, Inc. (INOD) advocates for increased accuracy and timeliness of diagnoses and is a resource center for those who suffer with illnesses that have eluded diagnosis.”

www.undiagnosed-usa.org

“Syndromes Without A Name USA (SWAN USA) is a non-profit tax exempt organization that offers support, information and advice to families of children living with a syndrome without a name.”

https://rarediseases.info.nih.gov/gard/pages/24/tips-for-the-undiagnosed

Genetics and rare disease resources and support for patients families

WIEACKER-WOLFF SYNDROME / ZC4H2

http://www.genecards.org/cgi-bin/carddisp.pl?gene=zc4h2

http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=24931

http://ghr.nlm.nih.gov/gene/zc42

http://www.malacardsorg/card/wieacker_wolff_syndrome

http://www.ncbi.nlm.nih.gov/gene/55906

http://www.ncbi.nlm.nih.gov/gtr/conditions/c0796200/

http://neuromuscular.wustl.edu/msys/contract.html#lccs

http://www.omim.org/entry/300897

http://www.omim.org/entry/314580

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3454

https://rarediseases.info.nih.gov/gard/7890/wieacker-syndrome/resources/1

http://uswest.ensemble.org/Homo_sapeins/Gene/Summary?db=core:g=ENSG00000126970:r=X:64915802-65034713

RESEARCH ARTICLES related to WWS or ZC4H2

2011 – A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis.

http://www.ncbi.nlm.nih.gov/pubmed/21668950

2013 – Genes That Escape X-Inactivation in Humans Have High Intraspecific Variability in Expression, Are Associated with Mental Impairment but Are Not Slow Evolving

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3840307/

2013 – Cause of genetic disease discovered

http://www.molgen.mpg.de/283168/news_publication_7242146

2015 – Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332666

RESEARCH ARTICLES specific to WWS / ZC4H2

1985 – A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.  (abstract only, full article not available for free)

http://www.ncbinlm.nih.gov/pubmed/4039531

1987 – Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq   (abstract only, full article not available for free)

http://www.ncbi.nlm.nih.gov/pubmed/2890303

1997 – Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome   (abstract only, full article not available for free)

http://www.ncbi.nlm.nih.gov/pubmed/9272167

2013 – ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

http://www.ncbi.nlm.nih.gov/pubmed/23623388

2015 – ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

http://www.ncbi.nlm.nih.gov/pubmed/26056227

http://hmg.oxfordjournals.org/content/24/17/4848

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2 thoughts on “Wieacker-Wolff Syndrome Resources

  1. Hi! My name is Joary, I live in Brazil. Our daughter have Wieacker-Wolf syndrome. I saw your post and felt like talking about it. Forgive me because my English is bad. Falo português. Hablo español. Thanks!

    Like

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