Details of Disease

General Information of Disease (ID: DISWJY3U)

Disease Name Mucolipidosis type IV
Synonyms
Berman syndrome; ML4; mucolipidosis 4; ganglioside sialidase deficiency; sialolipidosis; ganglioside neuraminidase deficiency; ML 4; mucolipidosis IV; Mucolipidosis IV; ML IV; mucolipidosis type IV; mucolipidosis type 4; MLIV
Definition A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.
Disease Hierarchy
DISB52BH: Eye disorder
DIS2NALR: Familial mucolipidosis
DISWJY3U: Mucolipidosis type IV
Disease Identifiers
MONDO ID
MONDO_0009653
MESH ID
D009081
UMLS CUI
C0238286
OMIM ID
252650
MedGen ID
68663
Orphanet ID
578
SNOMED CT ID
725296006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HEXA TTJI5JW Limited Genetic Variation [1]
TYRP1 TTFRV98 moderate Biomarker [2]
MCOLN1 TT9XBVO Definitive Autosomal recessive [3]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC30A3 DTKMECW Strong Altered Expression [4]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TBPL1 OT4I143E moderate Biomarker [2]
TFEB OTJUJJQY moderate Biomarker [5]
TMEM163 OTCT1Y1L moderate Biomarker [6]
MCOLN1 OTO8GJ70 Definitive Autosomal recessive [3]
NEB OT7P9IR3 Definitive Genetic Variation [7]
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References

1 The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.Neurology. 2013 Apr 23;80(17):1606-10. doi: 10.1212/WNL.0b013e31828f180e. Epub 2013 Mar 27.
2 Human TRPML1 channel structures in open and closed conformations.Nature. 2017 Oct 19;550(7676):366-370. doi: 10.1038/nature24036. Epub 2017 Oct 11.
3 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.
4 ZnT3 expression levels are down-regulated in the brain of Mcoln1 knockout mice.Mol Brain. 2019 Mar 26;12(1):24. doi: 10.1186/s13041-019-0446-3.
5 Current concepts in the neuropathogenesis of mucolipidosis type IV.J Neurochem. 2019 Mar;148(5):669-689. doi: 10.1111/jnc.14462. Epub 2018 Aug 30.
6 Cellular zinc levels are modulated by TRPML1-TMEM163 interaction.Traffic. 2014 Nov;15(11):1247-65. doi: 10.1111/tra.12205. Epub 2014 Sep 2.
7 Development of TaqMan allelic discrimination based genotyping of large DNA deletions.Genomics. 2012 Mar;99(3):127-31. doi: 10.1016/j.ygeno.2012.01.003. Epub 2012 Jan 17.