Mast syndrome

Common Name(s)

Mast syndrome

Mast syndrome is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish (summary by {3:Simpson et al., 2003}). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mast 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 "Mast syndrome" returned 31 free, full-text research articles on human participants. First 3 results:

Mast cell specific immunological biomarkers and metabolic syndrome among middle-aged and older Chinese adults.
 

Author(s): Zhen Wang, Xu-Hui Shen, Wen-Ming Feng, Wei Qiu

Journal: Endocr. J.. 2017 Mar;64(3):245-253.

 

The main aim of this study is to explore whether these mast cell specific immunological biomarkers [immunoglobulin E (IgE), chymase and tryptase] is an independent risk factor of MetS and whether the combined action of these biomarkers increased the associations with MetS. Three mast ...

Last Updated: 27 Oct 2016

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Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis.
 

Author(s): Arnold S Kirshenbaum, Glenn Cruse, Avanti Desai, Geethani Bandara, Maarten Leerkes, Chyi-Chia R Lee, Elizabeth R Fischer, Kevin J O'Brien, Bernadette R Gochuico, Kelly Stone, William A Gahl, Dean D Metcalfe

Journal:

 

Hermansky-Pudlak Syndrome type-1 (HPS-1) is an autosomal recessive disorder caused by mutations in HPS1 which result in reduced expression of the HPS-1 protein, defective lysosome-related organelle (LRO) transport and absence of platelet delta granules. Patients with HPS-1 exhibit ...

Last Updated: 27 Jul 2016

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Of Mouse Models of Mast Cell Deficiency and Metabolic Syndrome.
 

Author(s): Thorsten B Feyerabend, Dario A Gutierrez, Hans-Reimer Rodewald

Journal: Cell Metab.. 2016 07;24(1):1-2.

 

Last Updated: 14 Jul 2016

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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 "Mast syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Immunology and clinical manifestations of non-clonal mast cell activation syndrome.
 

Author(s): Juan-Carlos Cardet, Mariana C Castells, Matthew J Hamilton

Journal: Curr Allergy Asthma Rep. 2013 Feb;13(1):10-8.

 

There is a spectrum of disorders that clinically manifest as a result of mast cell activation. A non-clonal form has emerged in the literature where many of the clinical features of systemic mastocytosis are shared despite having a distinct mast cell biology. In this review, we summarize ...

Last Updated: 14 Jan 2013

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Mast cells and metabolic syndrome.
 

Author(s): Jie Zhang, Guo-Ping Shi

Journal: Biochim. Biophys. Acta. 2012 Jan;1822(1):14-20.

 

Mast cells are critical effectors in the development of allergic diseases and in many immunoglobulin E-mediated immune responses. These cells exert their physiological and pathological activities by releasing granules containing histamine, cytokines, chemokines, and proteases, including ...

Last Updated: 5 Dec 2011

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Irritable bowel syndrome immune hypothesis. Part one: the role of lymphocytes and mast cells.
 

Author(s): M Ortiz-Lucas, P Saz-Peiró, J J Sebastián-Domingo

Journal: Rev Esp Enferm Dig. 2010 Nov;102(11):637-47.

 

To review the available evidence on the role of T-lymphocytes and mast cells in the etiopathogenesis of Irritable Bowel Syndrome.

Last Updated: 14 Dec 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Mast Cells in Male Pelvic Pain and and Lower Urinary Tract Dysfunction
 

Status: Recruiting

Condition Summary: Chronic Prostatitis With Chronic Pelvic Pain Syndrome

 

Last Updated: 29 Aug 2017

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Platelets as Regulators of Inflammation in Cardiac Surgery
 

Status: Recruiting

Condition Summary: Systemic Inflammatory Response Syndrome; Acute Kidney Injury

 

Last Updated: 22 May 2017

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CD16/IL-15/CD33 Tri-Specific Killer Engagers (TriKes) for CD33+ Hem Malignancies
 

Status: Not yet recruiting

Condition Summary: High-risk Myelodysplastic Syndromes; Acute Myelogenous Leukemia; Acute Lymphoblastic Leukemia; Systemic Mastocytosis; Mast Cell Leukemia

 

Last Updated: 10 Jul 2017

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