Details of Disease | DrugMAP

General Information of Disease (ID: DISWOTAK)

Disease Name	Mucosulfatidosis
Synonyms	multiple sulfatase deficiency; sulfatidosis juvenile, Austin type; juvenile sulfatidosis; mucosulfatidosis; Multiple Sulfatase Deficiency; multiple sulfatase deficiency disease; MSD; sulfatidosis, juvenile, Austin type; juvenile sulfatidosis, Austin type
Definition	Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.
Disease Hierarchy	DISTXWNT: Integumentary system disorder DISEC08E: Sphingolipidosis DISMFQKM: Developmental anomaly of metabolic origin DISZHA63: Lysosomal storage disease with skeletal involvement DISWOTAK: Mucosulfatidosis
Disease Identifiers	MONDO ID MONDO_0010088 MESH ID D052517 UMLS CUI C0268263 OMIM ID 272200 MedGen ID 75664 Orphanet ID 585 SNOMED CT ID 54898003

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
SGSH	TTPJ2SH	Limited	Biomarker	[1]
STS	TTHM0R1	moderate	Biomarker	[2]
ARSA	TTYQANR	Strong	Altered Expression	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARSH	OTG0X9UQ	Strong	Altered Expression	[4]
SUMF1	OTALXO2A	Definitive	Autosomal recessive	[5]
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References

1	A block of autophagy in lysosomal storage disorders.Hum Mol Genet. 2008 Jan 1;17(1):119-29. doi: 10.1093/hmg/ddm289. Epub 2007 Oct 3.
2	Ichthyosis: the skin manifestation of multiple sulfatase deficiency.Pediatr Dermatol. 1997 Sep-Oct;14(5):369-72. doi: 10.1111/j.1525-1470.1997.tb00984.x.
3	Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.J Child Neurol. 2004 Jun;19(6):447-52. doi: 10.1177/088307380401900610.
4	Expert recommendations for the laboratory diagnosis of MPS VI.Mol Genet Metab. 2012 May;106(1):73-82. doi: 10.1016/j.ymgme.2012.02.005. Epub 2012 Feb 10.
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.