Details of Disease

General Information of Disease (ID: DIS2Y2P2)

• Disease Name: Morquio syndrome
• Synonyms: galactosamine-6-sulfatase deficiency; mucopolysaccharidosis type IVA; mucopolysaccharidosis type IVB; MPS IV - Morquio syndrome B; chondroosteodystrophy; mucopolysaccharidosis, MPS-IV-A; Morquio syndrome A; deficiency of N-acetylgalactosamine-6-sulphatase; Osteochondrodystrophy; Morquio A disease; MPS IV - Morquio syndrome A; Morquio syndrome; mucopolysaccharidosis, MPS-IV; mucopolysaccharidosis IV; mucopolysaccharidosis type 4; Morquio disease; MPS4; mucopolysaccharidosis type IV; deficiency of chondroitinsulphatase; Mucopolysaccharidosis IV; MPSIV
• Disease Class: 5C56: Lysosomal disease
• Definition: Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DIS6SVEE: Syndromic disease
  DISE1F82: Bone disease
  DISB083T: Mucopolysaccharidosis
  DIS2Y2P2: Morquio syndrome
• ICD Code:
  ICD-11: ICD-11: 5C56.32
  ICD-10: ICD-10: E76.2
  Expand ICD-11: '5C56.32
  Expand ICD-10: 'E76.2
• Disease Identifiers:
  MONDO ID: MONDO_0018938
  MESH ID: D009085
  UMLS CUI: C0026707
  MedGen ID: 44513
  Orphanet ID: 582
  SNOMED CT ID: 378007

Drug-Interaction Atlas (DIA) of This Disease

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
BMN-110	DMBXR23	Phase 3	NA	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ARSB	TTESQTG	Strong	Genetic Variation	[2]
GLB1	TTNGJPH	Strong	Biomarker	[3]
IDS	TTNY2AP	Strong	Biomarker	[2]
NEK1	TTO5QT2	Strong	Genetic Variation	[4]
GALNS	TTT9YPO	Definitive	Biomarker	[5]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC13A1	DTIZEMV	Strong	Genetic Variation	[6]
SLC26A2	DTFSLX5	Strong	Genetic Variation	[6]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
P3H1	DEW527E	Strong	Genetic Variation	[7]

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL10A1	OTC4G2YC	Strong	Biomarker	[8]
COMP	OTS2FPMI	Strong	Genetic Variation	[9]
CRTAP	OT53H5U6	Strong	Genetic Variation	[7]
FKBP14	OT55W5WC	Strong	Biomarker	[10]
GNPTG	OTYO6ONR	Strong	Genetic Variation	[11]
GOLGB1	OT2S0GK8	Strong	Altered Expression	[12]
HYAL1	OT2SJN0X	Strong	Altered Expression	[13]
SHOX	OTE0YZJO	Strong	Genetic Variation	[14]
SPAM1	OTMPOB4E	Strong	Altered Expression	[13]
TAPT1	OT3Z51KH	Strong	Genetic Variation	[15]
TRAPPC2	OTWL5H45	Strong	Genetic Variation	[16]

References

• [1] ClinicalTrials.gov (NCT01415427) Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome). U.S. National Institutes of Health.
• [2] Incidence of the mucopolysaccharidoses in Western Australia.Am J Med Genet A. 2003 Dec 15;123A(3):310-3. doi: 10.1002/ajmg.a.20314.
• [3] Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B.Mol Genet Metab. 2019 Feb;126(2):139-150. doi: 10.1016/j.ymgme.2018.11.002. Epub 2018 Nov 22.
• [4] NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004.
• [5] Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
• [6] Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed.PLoS One. 2012;7(12):e51917. doi: 10.1371/journal.pone.0051917. Epub 2012 Dec 26.
• [7] Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.Cell Tissue Res. 2010 Jan;339(1):59-70. doi: 10.1007/s00441-009-0872-0. Epub 2009 Oct 28.
• [8] Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.Hum Mutat. 1997;9(2):131-5. doi: 10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C.
• [9] Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.Chin Med J (Engl). 2010 Aug;123(16):2181-4.
• [10] Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.Clin Genet. 2014 Nov;86(5):469-72. doi: 10.1111/cge.12414. Epub 2014 May 22.
• [11] Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.J Pathol. 2011 Sep;225(1):12-8. doi: 10.1002/path.2941.
• [12] Giantin is required for coordinated production of aggrecan, link protein and type XI collagen during chondrogenesis.Biochem Biophys Res Commun. 2018 May 15;499(3):459-465. doi: 10.1016/j.bbrc.2018.03.163. Epub 2018 Mar 27.
• [13] Serum hyaluronidase aberrations in metabolic and morphogenetic disorders.Glycoconj J. 2005 Nov;22(7-9):395-400. doi: 10.1007/s10719-005-1390-2.
• [14] Auxological and anthropometric evaluation in skeletal dysplasias.J Endocrinol Invest. 2010 Jun;33(6 Suppl):19-25.
• [15] Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi: 10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10.
• [16] Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.J Clin Endocrinol Metab. 2001 Jul;86(7):3233-6. doi: 10.1210/jcem.86.7.7688.