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mucolipidosis II alpha/beta

Summary

Synonym

I-cell disease
inclusion-cell disease
mucolipidosis II

Definition

A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.

Super Class

mucolipidosis

External Links

Disease Ontology

DOID:0080070

Mondo Disease Ontology

MONDO:0009650

OMIM

252500

GARD

6749

MGI genotype (from TogoID)

Related Genes

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Gene ID	Gene Symbol	Description	Source
353	APRT	adenine phosphoribosyltransferase	DisGeNET
811	CALR	calreticulin	DisGeNET
1798	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	DisGeNET
2990	GUSB	glucuronidase beta	DisGeNET
3425	IDUA	alpha-L-iduronidase	DisGeNET
3482	IGF2R	insulin like growth factor 2 receptor	DisGeNET
5333	PLCD1	phospholipase C delta 1	DisGeNET
5335	PLCG1	phospholipase C gamma 1	DisGeNET
10724	OGA	O-GlcNAcase	DisGeNET
51172	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	DisGeNET

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
432486	Gnptab	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
553365	gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Alliance of Genome Resources

Related Glycoprotein

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UniProt ID	Protein Name	Source
O60502	Protein O-GlcNAcase	DisGeNET
P07741	Adenine phosphoribosyltransferase	DisGeNET
P08236	Beta-glucuronidase	DisGeNET
P11717	Cation-independent mannose-6-phosphate receptor	DisGeNET
P19174	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1	DisGeNET
P27797	Calreticulin	DisGeNET
P35475	Alpha-L-iduronidase	DisGeNET
P51178	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1	DisGeNET
Q3T906	N-acetylglucosamine-1-phosphotransferase subunits alpha/beta	Glyco-Disease Genes Database DisGeNET DisGeNET
Q9H3H5	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	DisGeNET

The Human Phenotype Ontology

Displaying entries **111 - 120** of **135** in total

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HPO ID	HPO Term
HP:0003311	Hypoplasia of the odontoid process
HP:0003333	Increased serum beta-hexosaminidase
HP:0003414	Atlantoaxial dislocation
HP:0003423	Thoracolumbar kyphoscoliosis
HP:0003538	Increased iduronate sulfatase level
HP:0003593	Infantile onset
HP:0003819	Death in childhood
HP:0004562	Beaking of vertebral bodies T12-L3
HP:0004626	Lumbar scoliosis
HP:0006362	Varus deformity of humeral neck