Details of Disease

General Information of Disease (ID: DISOZ8DI)

• Disease Name: Mucolipidosis
• Definition: A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.
• Disease Hierarchy:
  DISMFQKM: Developmental anomaly of metabolic origin
  DISM78Q9: Glycoproteinosis
  DISOZ8DI: Mucolipidosis
• Disease Identifiers:
  MONDO ID: MONDO_0019248
  MESH ID: D009081
  UMLS CUI: C0026697
  MedGen ID: 7731
  Orphanet ID: 79212
  SNOMED CT ID: 70528007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MCOLN1	TT9XBVO	Limited	Genetic Variation	[1]
CTSA	TT5NILS	Strong	Genetic Variation	[2]
EGFL7	TT7WD0H	Strong	Genetic Variation	[3]
GLB1	TTNGJPH	Strong	Biomarker	[4]
IDS	TTNY2AP	Strong	Genetic Variation	[5]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Definitive	Biomarker	[6]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEURL1	OT2C4P70	Limited	Genetic Variation	[3]
DPAGT1	OTYEJAGZ	Strong	Genetic Variation	[7]
FUCA2	OTY5NVMJ	Strong	Biomarker	[8]
NEU1	OTH9BY8Y	Strong	Genetic Variation	[3]
GNPTAB	OT2Z03OB	Definitive	Autosomal recessive	[9]

References

• [1] Regulation of TRPML1 function.Biochem Soc Trans. 2015 Jun;43(3):442-6. doi: 10.1042/BST20140311.
• [2] Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.Biochem Soc Trans. 2010 Dec;38(6):1453-7. doi: 10.1042/BST0381453.
• [3] Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation.Stem Cell Res. 2018 Apr;28:39-43. doi: 10.1016/j.scr.2018.01.024. Epub 2018 Jan 31.
• [4] Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.Biochem Biophys Res Commun. 2015 Feb 20;457(4):554-60. doi: 10.1016/j.bbrc.2015.01.023. Epub 2015 Jan 16.
• [5] Mucopolysaccharidoses and mucolipidoses.Handb Clin Neurol. 2013;113:1723-9. doi: 10.1016/B978-0-444-59565-2.00042-3.
• [6] Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet. 2003 Jul 1;12(13):1631-41. doi: 10.1093/hmg/ddg172.
• [7] Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.Hum Mutat. 2009 Nov;30(11):E956-73. doi: 10.1002/humu.21099.
• [8] Homozygosity for the variant alpha-L-fucosidase trait and mucolipidosis III.Hum Genet. 1985;70(1):71-3. doi: 10.1007/BF00389462.
• [9] 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.