Multiple sulfatase deficiency

Preferred Label : Multiple sulfatase deficiency;

Symbol : MSD;

CISMeF acronym : MSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MUCOSULFATIDOSIS; Sulfatidosis, juvenile, austin type;

Description : Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. The enzymatic defect affects the whole family of sulfatase enzymes; thus, the disorder combines features of metachromatic leukodystrophy (250100) and of various mucopolysaccharidoses (see, e.g., MPS6; 253200). Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and ichthyosis. Different types of MSD can be distinguished according to the age of onset: neonatal, late infantile (0 to 2 years), and juvenile (2 to 4 years). Neonatal MSD is the most severe form with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. Late-infantile MSD, which includes the majority of cases, resembles late-infantile metachromatic leukodystrophy with progressive loss of mental and motor abilities and skeletal changes. There is also an attenuated form of late-infantile MSD with onset beyond the second year of life. Rare cases of juvenile-onset MSD have been reported with onset of symptoms in late childhood and slower progression (Blanco-Aguirre et al., 2001) (summary by Schlotawa et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sulfatase-modifying factor 1 gene (SUMF1, 607939.0001);

Laboratory abnormalities : Decreased activities of multiple sulfatases; Urinary excretion of mucopolysaccharides; Accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids;

Prefixed ID : #272200;

Details

Origin ID

272200;

UMLS CUI

C0268263;

Currated CISMeF NLP mapping
- Mucosulfatidosis [ICD-11 More detail]
- Multiple Sulfatase Deficiency Disease [NCIt concept]
- Multiple sulfatase deficiency [ORDO Disease]
- Multiple sulfatase deficiency (disorder) [SNOMED CT concept]
- mucosulfatidosis [DO Concept]
- multiple sulfatase deficiency [Disease (Nov.)]
- multiple sulfatase deficiency disease [MeSH Descriptor]
- multiple sulfatase deficiency disease [MeSH concept]
- multiple sulfatase deficiency, nos [SNOMED Notion]
DO Cross reference
- mucosulfatidosis [DO Concept]
Genes related to phenotype
- Sulfatase-modifying factor 1 [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Anteverted nares [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad hallux [HPO term]
- Broad thumb [HPO term]
- CNS demyelination [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Coarse facial features [HPO term]
- Corneal opacity [HPO term]
- Deafness [HPO term]
- Dysostosis multiplex [HPO term]
- Flat face [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- Hydrocephalus [HPO term]
- Hypoplastic vertebral bodies [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Increased CSF protein [HPO term]
- Intellectual disability [HPO term]
- Large forehead [HPO term]
- Lower limb hyperreflexia [HPO term]
- Mildly coarse facies [HPO term]
- Mucopolysacchariduria [HPO term]
- Neonatal hypotonia [HPO term]
- Periorbital edema [HPO term]
- Peripheral demyelination [HPO term]
- Prominent forehead [HPO term]
- Rapid neurologic deterioration [HPO term]
- Retinal degeneration [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Splenomegaly [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Multiple sulfatase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucosulfatidosis [ICD-11 More detail]
- Multiple Sulfatase Deficiency Disease [NCIt concept]
- Multiple sulfatase deficiency [ORDO Disease]
- Multiple sulfatase deficiency [LOINC component]
- Multiple sulfatase deficiency (disorder) [SNOMED CT concept]
- mucosulfatidosis [DO Concept]
- multiple sulfatase deficiency [Disease (Nov.)]
- multiple sulfatase deficiency disease [MeSH Descriptor]
- multiple sulfatase deficiency disease [MeSH concept]
- multiple sulfatase deficiency, nos [SNOMED Notion]

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