Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
Preferred Name

MULTIPLE SULFATASE DEFICIENCY
Synonyms

MSD

SULFATIDOSIS, JUVENILE, AUSTIN TYPE

MUCOSULFATIDOSIS

ID

http://purl.bioontology.org/ontology/OMIM/272200

altLabel

MSD

SULFATIDOSIS, JUVENILE, AUSTIN TYPE

MUCOSULFATIDOSIS

cui

C0268263

Gene Locus

3p26

Gene Symbol

FGE

SUMF1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU032639

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU000744

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU002306

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU010928

http://purl.bioontology.org/ontology/OMIM/MTHU032636

http://purl.bioontology.org/ontology/OMIM/MTHU023235

http://purl.bioontology.org/ontology/OMIM/MTHU037359

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU007281

http://purl.bioontology.org/ontology/OMIM/MTHU010456

http://purl.bioontology.org/ontology/OMIM/MTHU032635

http://purl.bioontology.org/ontology/OMIM/MTHU000136

http://purl.bioontology.org/ontology/OMIM/MTHU005348

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU032640

http://purl.bioontology.org/ontology/OMIM/MTHU007185

http://purl.bioontology.org/ontology/OMIM/MTHU006883

http://purl.bioontology.org/ontology/OMIM/MTHU000702

http://purl.bioontology.org/ontology/OMIM/MTHU032641

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU032637

http://purl.bioontology.org/ontology/OMIM/MTHU004856

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU000260

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU012473

http://purl.bioontology.org/ontology/OMIM/MTHU032638

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

272200

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

MULTIPLE SULFATASE DEFICIENCY

Scope Statement

Later onset is associated with slower progression and lesser severity [MISCELLANEOUS]

Caused by mutation in the sulfatase-modifying factor 1 gene (SUMF1, 607939.0001) [MOLECULAR BASIS]

Onset usually in the first 4 years of life [MISCELLANEOUS]

Neonatal and late-infantile onset [MISCELLANEOUS]

tui

T047

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