Details of Disease

General Information of Disease (ID: DIS1K7GJ)

• Disease Name: GNPTG-mucolipidosis
• Synonyms: mucolipidosis III, Iranian variant form; mucolipidosis III gamma; mucolipidosis 3 gamma; ML 3C; mucolipidosis 3C; mucolipidosis III, variant form; mucolipidosis III, complementation group C; mucolipidosis type 3 gamma; ML 3 gamma; ML III gamma; GNPTG-mucolipidosis; mucolipidosis type III gamma
• Definition: 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 II and mucolipidosis 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.
• Disease Hierarchy:
  DISZHA63: Lysosomal storage disease with skeletal involvement
  DIS2NALR: Familial mucolipidosis
  DIS1K7GJ: GNPTG-mucolipidosis
• Disease Identifiers:
  MONDO ID: MONDO_0009652
  MESH ID: C565367
  UMLS CUI: C1854896
  OMIM ID: 252605
  MedGen ID: 340743
  Orphanet ID: 423470

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNPTG	OTYO6ONR	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.