Multiple Sulfatase Deficiency

Alternative Names

  • MSD
  • Mucosulfatidosis
  • Sulfatidosis, Juvenile, Austin Type
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

272200

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3p26.1

Description

Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
272200.1.1LebanonMaleNoNo Oligohydramnios; Intrauterine growth re...NM_182760.4:c.1045C>T, NM_182760.4:c.706C>THeterozygousAutosomal, RecessiveSabourdy et al, 2015 The patient had a la...
272200.2United Arab EmiratesUnknown Neurodevelopmental delay; Hepatomegaly;...NM_182760.4:c.691dup, NM_182760.4:c.689A>GHeterozygousAutosomal, RecessiveAl-Shamsi et al. 2016
272200.3Saudi ArabiaMaleYesYes Nystagmus; High palate; Congenital contr...NM_182760.4:c.785A>GHomozygousAutosomal, RecessiveMonies et al. 2019
272200.4Saudi ArabiaFemale Microcephaly; Delayed speech and languag...NM_182760.4:c.785A>GHomozygousAutosomal, RecessiveMonies et al. 2019
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