Details of Disease | DrugMAP

General Information of Disease (ID: DISUNVXN)

Disease Name	Mucolipidosis type II
Synonyms	inclusion cell disease; N-acetylglucosamine 1phosphotransferase deficiency; mucolipidosis 2; ML disorder type 2; mucolipidosis II alpha/beta; mucolipidosis 2 alpha/beta; GNPTA; I cell disease; Leroy disease; ML 2 Alpha/Beta; ML 2; mucolipidosis type II alpha/beta; I Cell Disease; N-acetylglucosamine 1-phosphotransferase deficiency; I-cell disease; mucolipidosis type II; mucolipidosis II
Definition	Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.
Disease Hierarchy	DISZHA63: Lysosomal storage disease with skeletal involvement DISBFVOW: GNPTAB-mucolipidosis DISUNVXN: Mucolipidosis type II
Disease Identifiers	MONDO ID MONDO_0009650 MESH ID C567100 UMLS CUI C2673377 OMIM ID 252500 MedGen ID 435914 Orphanet ID 576

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNPTG	OTYO6ONR	Limited	Biomarker	[1]
NAGPA	OTR0B67G	Strong	Biomarker	[1]
GNPTAB	OT2Z03OB	Definitive	Autosomal recessive	[2]
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References

1	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.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.