Mucolipidosis type III gamma

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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 Data version December 2023

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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.

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

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.