Details of Disease

General Information of Disease (ID: DIS87GLG)

Disease Name	Mucopolysaccharidosis II
Synonyms	I2S deficiency; sulfoiduronate sulfatase deficiency; mucopolysaccharidosis, MPS-II; Hunter syndrome; mucopolysaccharidosis type II; MPS2; mucopolysaccharidosis, type 2; deficiency of iduronate-2-sulphatase; MPS with skin involvement; SIDS deficiency; MPS II; MPS 2; Hunter's syndrome; mucopolysaccharidosis II, X-linked recessive; IDS deficiency; iduronate 2-sulfatase deficiency; mucopolysaccharidosis with skin involvement; MPS II - Hunter syndrome; severe MPS II; mucopolysaccharidosis II; attenuated MPS (subtype; formerly known as mild MPS II); mucopolysaccharidosis type 2; Mucopolysaccharidosis Type II; MPSII; mucopolysaccharidosis, type II
Disease Class	5C56: Lysosomal disease
Definition	A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISZHA63: Lysosomal storage disease with skeletal involvement DISB083T: Mucopolysaccharidosis DIS87GLG: Mucopolysaccharidosis II
ICD Code	ICD-11 ICD-11: 5C56.31
Disease Identifiers	MONDO ID MONDO_0010674 MESH ID D016532 UMLS CUI C0026705 OMIM ID 309900 MedGen ID 7734 Orphanet ID 580 SNOMED CT ID 70737009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Idursulfase	DM30SXV	Approved	NA	[1]
------------------------------------------------------------------------------------

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
DNL310	DMO3QAZ	Phase 2/3	Enzyme replacement	[2]
Pabinafusp alfa	DMYO1IO	Phase 2/3	Fusion protein	[3]
------------------------------------------------------------------------------------

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
F9	TTFEZ5Q	Strong	Biomarker	[4]
IDUA	TT0IUKX	Strong	Genetic Variation	[5]
TTK	TTP7EGM	Strong	Genetic Variation	[5]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
IDS	DEL45C2	Definitive	X-linked	[6]
------------------------------------------------------------------------------------

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AFF2	OTMF1PZW	Strong	Genetic Variation	[7]
ARSH	OTG0X9UQ	Strong	Genetic Variation	[8]
DESI1	OTFNIW98	Strong	Altered Expression	[9]
FMR1	OTWEV0T5	Strong	Genetic Variation	[10]
MPEG1	OT7DAO0F	Strong	Genetic Variation	[5]
RPS27	OTFXKY7P	Strong	Genetic Variation	[5]
SLC35G1	OTKZUA8O	Strong	Altered Expression	[9]
IDS	OTZO94EO	Definitive	X-linked	[6]
------------------------------------------------------------------------------------


⏷ Show the Full List of 8 DOT(s)

References

1	Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study. Mol Genet Metab. 2022 Sep-Oct;137(1-2):127-139.
2	ClinicalTrials.gov (NCT05371613) A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II. U.S.National Institutes of Health.
3	A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II. Mol Ther. 2021 Feb 3;29(2):671-679.
4	Genetic heterogeneity of X-linked mental retardation with fragile X. Association of tight linkage to factor IX and incomplete penetrance in males.Ann Hum Genet. 1987 May;51(2):107-24. doi: 10.1111/j.1469-1809.1987.tb01052.x.
5	Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration.J Mol Med (Berl). 2017 Oct;95(10):1043-1052. doi: 10.1007/s00109-017-1562-0. Epub 2017 Jun 29.
6	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.
7	Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).J Child Neurol. 2012 Jun;27(6):786-90. doi: 10.1177/0883073811425860. Epub 2011 Dec 21.
8	Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.J Trop Pediatr. 2007 Dec;53(6):434-7. doi: 10.1093/tropej/fmm056. Epub 2007 Jul 5.
9	Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS/MS.Bioanalysis. 2019 Apr;11(8):727-740. doi: 10.4155/bio-2018-0306. Epub 2019 Apr 17.
10	Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.BMC Med Genet. 2013 May 1;14:49. doi: 10.1186/1471-2350-14-49.