Details of Disease

General Information of Disease (ID: DISTYFQS)

• Disease Name: Mucopolysaccharidosis type 4A
• Synonyms: MPS 4A; mucopolysaccharidosis, type IVA; MPS IVA; mucopolysaccharidosis, type 4A; Morquio A disease; Morquio disease type A; galactosamine-6-sulfatase deficiency; GALNS deficiency; mucopolysaccharidosis type IVA; mucopolysaccharidosis type 4A; Morquio syndrome A; mucopolysaccharidosis IVA; MPS IV A; N-acetylgalactosamine-6-sulfate sulfatase deficiency; MPS4A; MPSIVA
• Definition: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
• Disease Hierarchy:
  DIS2Y2P2: Morquio syndrome
  DISZHA63: Lysosomal storage disease with skeletal involvement
  DISB083T: Mucopolysaccharidosis
  DISTYFQS: Mucopolysaccharidosis type 4A
• Disease Identifiers:
  MONDO ID: MONDO_0009659
  MESH ID: D009085
  UMLS CUI: C0086651
  OMIM ID: 253000
  MedGen ID: 43375
  Orphanet ID: 309297
  SNOMED CT ID: 130197005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ARSB	TTESQTG	Limited	Genetic Variation	[1]
GALNS	TTT9YPO	Limited	Genetic Variation	[2]
GLB1	TTNGJPH	Strong	Biomarker	[3]
IDUA	TT0IUKX	Strong	Biomarker	[4]
TTK	TTP7EGM	Strong	Biomarker	[4]
GALNS	TTT9YPO	Definitive	Autosomal recessive	[5]
IDS	TTNY2AP	Definitive	Biomarker	[6]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LGSN	OTQG5Z82	Strong	Biomarker	[7]
MPEG1	OT7DAO0F	Strong	Biomarker	[4]
RPS27	OTFXKY7P	Strong	Biomarker	[4]
ST3GAL1	OTFCO8QX	Strong	Biomarker	[8]
ST3GAL2	OT8WM21E	Strong	Biomarker	[8]
SUMF1	OTALXO2A	Strong	Biomarker	[9]
TRAPPC2L	OT1LN60D	Strong	Genetic Variation	[10]
GALNS	OTAFFAE8	Definitive	Autosomal recessive	[5]

References

• [1] Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses.Diagnostics (Basel). 2019 Oct 14;9(4):148. doi: 10.3390/diagnostics9040148.
• [2] Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene.Stem Cell Res. 2019 Apr;36:101408. doi: 10.1016/j.scr.2019.101408. Epub 2019 Feb 15.
• [3] Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.Mol Genet Metab Rep. 2018 Jul 20;16:57-63. doi: 10.1016/j.ymgmr.2018.06.006. eCollection 2018 Sep.
• [4] Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.J Inherit Metab Dis. 2020 Mar;43(2):309-317. doi: 10.1002/jimd.12166. Epub 2019 Oct 1.
• [5] 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.
• [6] Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses.Mol Genet Genomic Med. 2019 May;7(5):e00617. doi: 10.1002/mgg3.617. Epub 2019 Mar 8.
• [7] Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro.Hum Gene Ther. 2001 Nov 1;12(16):2007-16. doi: 10.1089/104303401753204571.
• [8] Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.J Clin Invest. 1992 Sep;90(3):1049-53. doi: 10.1172/JCI115919.
• [9] Elosulfase alfa.Drugs Today (Barc). 2014 Jul;50(7):475-83. doi: 10.1358/dot.2014.50.7.2177904.
• [10] Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.Mol Genet Metab. 2014 Jun;112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Epub 2014 Mar 20.