Details of Disease

General Information of Disease (ID: DISU1TGJ)

Disease Name Mucolipidosis type III, alpha/beta
Synonyms
mucolipidosis 3 Alpha/Beta, atypical; mucolipidosis 3 Alpha/Beta; mucolipidosis type 3A; ML 3 A; mucolipidosis 3A; mucolipidosis type III alpha/beta; ML 3 Alpha/Beta; mucolipidosis III ALPHA/BETA; ML3; mucolipidosis 3; mucolipidosis III; ML 3; ML III alpha/beta; Pseudo Hurler Polydystrophy; mucolipidosis type 3 alpha/beta; MLIII; mucolipidosis type III; ML 3 alpha/beta; pseudo-Hurler polydystrophy
Definition
Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.
Disease Hierarchy
DISZHA63: Lysosomal storage disease with skeletal involvement
DIS2NALR: Familial mucolipidosis
DISBFVOW: GNPTAB-mucolipidosis
DISU1TGJ: Mucolipidosis type III, alpha/beta
Disease Identifiers
MONDO ID
MONDO_0018931
MESH ID
D009081
UMLS CUI
C0033788
OMIM ID
252600
MedGen ID
10988
Orphanet ID
423461
SNOMED CT ID
65764006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MCOLN1 TT9XBVO Strong Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GNPTG OTYO6ONR Strong Biomarker [2]
NAGPA OTR0B67G Strong Biomarker [3]
GNPTAB OT2Z03OB Definitive Autosomal recessive [4]
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References

1 Reconstitution of lysosomal NAADP-TRP-ML1 signaling pathway and its function in TRP-ML1(-/-) cells.Am J Physiol Cell Physiol. 2011 Aug;301(2):C421-30. doi: 10.1152/ajpcell.00393.2010. Epub 2011 May 25.
2 Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the Subunit of GlcNAc-1-Phosphotransferase.Hum Mutat. 2016 Jul;37(7):623-6. doi: 10.1002/humu.22993. Epub 2016 Apr 22.
3 Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.Eur J Hum Genet. 2016 Apr;24(4):529-34. doi: 10.1038/ejhg.2015.154. Epub 2015 Jul 1.
4 Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. Am J Hum Genet. 2006 Mar;78(3):451-63. doi: 10.1086/500849. Epub 2006 Jan 24.