Mucolipidosis IV

Common Name(s)

Mucolipidosis IV

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucolipidosis IV" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucolipidosis IV" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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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 "Mucolipidosis IV" returned 27 free, full-text research articles on human participants. First 3 results:

Quantitative neuroimaging in mucolipidosis type IV.
 

Author(s): Raphael Schiffmann, Joan Mayfield, Caren Swift, Igor Nestrasil

Journal: Mol. Genet. Metab.. 2014 Feb;111(2):147-51.

 

Mucolipidosis type IV (MLIV) is an autosomal recessive disorder resulting from mutations in the MCOLN1 gene. This gene encodes the endosomal/lysosomal transient receptor potential channel protein mucolipin-1 (TRPML1). Affected patients suffer from neurodevelopmental abnormalities ...

Last Updated: 30 Jan 2014

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Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.
 

Author(s): Anna Benini, Andrea Bozzato, Silvia Mantovanelli, Laura Calvarini, Edoardo Giacopuzzi, Roberto Bresciani, Silvia Moleri, Daniela Zizioli, Monica Beltrame, Giuseppe Borsani

Journal: Int. J. Dev. Biol.. 2013 ;57(1):85-93.

 

Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder caused by mutations in the MCOLN1 gene coding for mucolipin-1 (TRPML1). TRPML1 belongs to a transient receptor potential channels (TRP) subfamily, which in mammals includes two other members: mucolipin-2 ...

Last Updated: 15 Apr 2013

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Systematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1.
 

Author(s): Ellen Spooner, Brooke M McLaughlin, Talya Lepow, Tyler A Durns, Justin Randall, Cameron Upchurch, Katherine Miller, Erin M Campbell, Hanna Fares

Journal: PLoS ONE. 2013 ;8(2):e56780.

 

Mucolipidosis type IV is a lysosomal storage disorder resulting from mutations in the MCOLN1 gene, which encodes the endosomal/lysosomal Transient Receptor Potential channel protein mucolipin-1/TRPML1. Cells isolated from Mucolipidosis type IV patients and grown in vitro and in in ...

Last Updated: 18 Feb 2013

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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 "Mucolipidosis IV" returned 1 free, full-text review articles on human participants. First 3 results:

Mucolipidosis type IV: an update.
 

Author(s): Kazuyo Wakabayashi, Ann Marie Gustafson, Ellen Sidransky, Ehud Goldin

Journal: Mol. Genet. Metab.. 2011 Nov;104(3):206-13.

 

Mucolipidosis type IV (MLIV) is a neurodevelopmental as well as neurodegenerative disorder with severe psychomotor developmental delay, progressive visual impairment, and achlorydria. It is characterized by the presence of lysosomal inclusions in many cell types in patients. MLIV ...

Last Updated: 31 Oct 2011

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Natural History of Mucolipidosis Type IV
 

Status: Recruiting

Condition Summary: Mucolipidosis Type IV

 

Last Updated: 13 Mar 2015

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Biomarker for Mucolipidosis Disorder Type I, II, III or IV
 

Status: Recruiting

Condition Summary: Mucolipidosis Type I; Mucolipidosis Type II; Mucolipidosis Type III; Mucolipidosis Type IV; Mucolipidosis

 

Last Updated: 19 Nov 2014

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Rare Disease Patient Registry: Coordination of Rare Diseases at Sanford
 

Status: Recruiting

Condition Summary: Rare Disorders; Undiagnosed Disorders; Disorders of Unknown Prevalence

 

Last Updated: 19 Aug 2015

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