Mucolipidosis type III gamma
Synonyms: ML 3 gamma | ML III gamma | Mucolipidosis type 3 gamma
Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease that has most often been observed in the Middle East characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders hips and finger joints; a gradual mild coarsening of facial features; and by a slower progression milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood but ultimately succumb to cardiorespiratory insufficiency.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Mucolipidosis type III gamma?
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Advocacy Organizations
Canadian Society for Mucopolysaccharide & Related Diseases Inc.
The Canadian Society for Mucopolysaccharide and Related Diseases Inc. (The Canadian MPS Society), founded in 1984, serves all Canadians affected by MPS and related diseases through support, education, advocacy and by advancing research.
Cure Mucolipidosis
Cure Mucolipidosis is a global organization that is committed to the identification and treatment of Mucolipidosis through education, advocacy and research. Cure Mucolipidosis will form partnerships with Science, Medicine and industry and will work towards finding a cure for people affected by Mucolipidosis globally. Our Vision To serve as a resource for stakeholders in the work, identification, treatment, and continual developments towards a cure for Mucolipidosis. To promote and support a global multi-stakeholder collaboration for Mucolipidosis. To identify patient numbers globally in preparation for clinical trials and drug company development for a therapy or cure.
Emory Lysosomal Storage Disease Center
The Emory Lysosomal and Peroxisomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment providing comprehensive and compassionate care for all of our patients affected by lysosomal storage diseases.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
International Society for Mannosidosis and Related Diseases
ISMRD is an internationally focused not-for-profit organization whose mission is to advocate for families and patients affected by, Alpha-Mannosidosis, Aspartylglucosaminuria, Beta-Mannosidosis, Fucosidosis, Galactosialidosis, Sialidosis (Mucolipidosis I), Mucolipidosis II, II/III, III alpha/beta, Mucolipidosis III Gamma, and Schindler Disease.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Lysosomal Storage Disorders Society – Pakistan
Our mission is to improve the lives of Lysosomal Storage Disease patients in Pakistan by advocating for patients’ rights and creating awareness in general public.
Lysosomal Storage Disorders Support Society
LSDSS endeavors to transform the life of children affected by rare Lysosomal Storage Disorders. Our mission is to increase awareness about the prevention of such disorders in future offspring as well as counsel the affected patients and families on how to cope with existing conditions, ensuring no patient or family living with an LSD ever feels alone.
MPS Society
The MPS Society supports families through difficult times and helps people living with rare diseases to live their lives to the full. Founded in 1982 and led by people directly affected by these diseases, we are the only registered charity in the UK which focusses on MPS (Mucopolysaccharide), Fabry and related conditions, a group of 27 rare, life-limiting genetic diseases.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Pompe Alliance
To provide supportive services, education and information to patients, caregivers, medical professionals and community stakeholders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.