Mucolipidosis III Gamma

Results from mutation in gene for gamma subunit of N-acetylglucosamine-1-phosphotransferase (GNPTG)

Also Known As:

Mucolipidosis III, Complementation Group C; Mucolipidosis III, Iranian Variant Form; Mucolipidosis III, Variant Form; Mucolipidosis IIIC

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Metabolic Bone Diseases: 6245
    - Mucolipidoses: 797
      - Mucolipidosis III Gamma: 5
Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 797
        Mucolipidosis III Gamma: 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 797
        Mucolipidosis III Gamma: 5

Related Diseases

1.	Mucolipidoses (Sialidosis)
2.	Lysosomal Storage Diseases (Lysosomal Storage Disease)

Experts

1.	Raas-Rothschild, A: 2 articles (03/2003 - 03/2000)
2.	Zeigler, M: 2 articles (03/2003 - 03/2000)
3.	Alegra, Taciane: 1 article (06/2016)
4.	Guarany, Nicole Ruas: 1 article (06/2016)
5.	Ludwig, Nataniel Floriano: 1 article (06/2016)
6.	Matte, Ursula: 1 article (06/2016)
7.	Schwartz, Ida V D: 1 article (06/2016)
8.	Sperb-Ludwig, Fernanda: 1 article (06/2016)
9.	Velho, Renata Voltolini: 1 article (06/2016)
10.	Fujiwara, Hideji: 1 article (01/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mucolipidosis III Gamma:

1.	EnzymesIBA 01/01/2011 - "Mucolipidosis III gamma is an autosomal recessive disorder with defective phosphorylation and trafficking of lysosomal enzymes. " 03/01/2003 - "Mucolipidosis IIIC (MLIIIC) is a rare autosomal recessive lysosomal storage disease resulting from defective mannose 6-phosphate-dependent lysosomal enzyme trafficking; mutations of the gamma subunit of N-acetylglucosamine-1 phosphotransferase (GINAcPT) were recently found to cause its pathogenesis. " 03/01/2000 - "Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (N-Acetylglucosamine-1-phosphotransferase [GlcNAc-phosphotransferase]) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. "
2.	Phosphotransferases (Kinase)IBA 03/01/2003 - "Mucolipidosis IIIC (MLIIIC) is a rare autosomal recessive lysosomal storage disease resulting from defective mannose 6-phosphate-dependent lysosomal enzyme trafficking; mutations of the gamma subunit of N-acetylglucosamine-1 phosphotransferase (GINAcPT) were recently found to cause its pathogenesis. " 03/01/2000 - "Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (N-Acetylglucosamine-1-phosphotransferase [GlcNAc-phosphotransferase]) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. "
3.	Nonsense Codon (Nonsense Mutation)IBA 06/01/2016 - "Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations."
4.	TransferasesIBA 03/01/2000 - "Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (N-Acetylglucosamine-1-phosphotransferase [GlcNAc-phosphotransferase]) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. "
5.	Mannose (D-Mannose)IBA 03/01/2003 - "Mucolipidosis IIIC (MLIIIC) is a rare autosomal recessive lysosomal storage disease resulting from defective mannose 6-phosphate-dependent lysosomal enzyme trafficking; mutations of the gamma subunit of N-acetylglucosamine-1 phosphotransferase (GINAcPT) were recently found to cause its pathogenesis. "
6.	HydrolasesIBA 03/01/2000 - "Mucolipidosis IIIC, or variant pseudo-Hurler polydystrophy, is an autosomal recessive disease of lysosomal hydrolase trafficking. " 03/01/2000 - "Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (N-Acetylglucosamine-1-phosphotransferase [GlcNAc-phosphotransferase]) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. "
7.	AcetylglucosamineIBA 03/01/2000 - "Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (N-Acetylglucosamine-1-phosphotransferase [GlcNAc-phosphotransferase]) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. "
8.	mutalipocin IIIBA 01/01/2014 - "Mutations in the α/β subunit precursor gene cause the severe lysosomal storage disorder mucolipidosis II (ML II) or the more moderate mucolipidosis III alpha/beta (ML III α/β), while mutations in the γ subunit gene cause the mildest disorder, mucolipidosis III gamma (ML III γ). "