Details of Disease | DrugMAP

General Information of Disease (ID: DIS5ZHNR)

Disease Name	Sialidosis type 2
Synonyms	glycoproteinosis; glycoprotein neuraminidase deficiency; mucolipidosis 1; mucolipidosis type 1; Neu deficiency; myoclonus--cherry Red spot syndrome; NEU 1 deficiency; sialidase deficiency; sialidosis, type 1; Neu1 deficiency; neuraminidase deficiency; cherry Red spot--myoclonus syndrome; ML1; sialidosis, type II; neuraminidase 1 deficiency; Neug deficiency; ML 1; lipomucopolysaccharidosis; sialidosis; dysmorphic sialidosis; sialidosis caused by mutation in NEU1; dysmorphic sialidosis with renal involvement; nephrosialidosis; sialidosis, type 2; mucolipidosis I; NEU1 sialidosis; sialidosis, type I; infantile dysmorphic sialidosis; mucolipidosis type I; sialidosis type II
Definition	A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.
Disease Hierarchy	DISZHA63: Lysosomal storage disease with skeletal involvement DISF3OAZ: Sialidosis DIS2NALR: Familial mucolipidosis DIS5ZHNR: Sialidosis type 2
Disease Identifiers	MONDO ID MONDO_0009738 MESH ID C537366 UMLS CUI C4282398 OMIM ID 256550 MedGen ID 924303 Orphanet ID 87876 SNOMED CT ID 124461006

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
GLB1	TTNGJPH	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEU1	OTH9BY8Y	Definitive	Autosomal recessive	[2]
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References

1	Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene.Hum Mutat. 1998;11(6):461-9. doi: 10.1002/(SICI)1098-1004(1998)11:6<461::AID-HUMU7>3.0.CO;2-F.
2	Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. J Hum Genet. 2002;47(1):29-37. doi: 10.1007/s10038-002-8652-7.