Mucopolysaccharidosis, type VII

Preferred Label : Mucopolysaccharidosis, type VII;

Symbol : MPS7;

CISMeF acronym : MPS7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Beta-glucuronidase deficiency; Gusb deficiency; Sly syndrome; Mps VII;

Description : Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-glucuronidase gene (GUSB, 611499.0001);

Laboratory abnormalities : Beta-glucuronidase deficiency in fibroblasts and leukocytes; Dermatan and heparan sulfate excretion in urine; Coarse metachromatic granules in white blood cells; Chondroitin 4-, 6-sulfate excretion in urine;

Prefixed ID : #253220;

Details

Origin ID

253220;

UMLS CUI

C0085132;

Automatic exact mappings (from CISMeF team)
- GUSB wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Deficiency of beta-glucuronidase (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis VII [MedDRA Preferred Term]
- Mucopolysaccharidosis type 7 [ICD-11 More detail]
- Mucopolysaccharidosis type 7 [ORDO Disease]
- Mucopolysaccharidosis type VII (disorder) [SNOMED CT concept]
- Sly Syndrome [NCIt concept]
- Sly mucopolysaccharidosis [PASCAL descriptor]
- Sly syndrome [DO Concept]
- Sly's syndrome [MedDRA LLT]
- mucopolysaccharidosis VII [MeSH concept]
- mucopolysaccharidosis type 7 [Disease (Nov.)]
- mucopolysaccharidosis vii [MeSH Descriptor]
- mucopolysaccharidosis, mps-vii [SNOMED Notion]
DO Cross reference
- Sly syndrome [DO Concept]
Genes related to phenotype
- Beta-glucuronidase [OMIM gene]
HPO term(s)
- Abnormal heart valve morphology [HPO term]
- Acetabular dysplasia [HPO term]
- Airway obstruction [HPO term]
- Anterior beaking of lower thoracic vertebrae [HPO term]
- Anterior beaking of lumbar vertebrae [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Chronic bronchitis [HPO term]
- Coarse facial features [HPO term]
- Coarse hair [HPO term]
- Corneal opacity [HPO term]
- Decreased pulmonary function [HPO term]
- Dermatan sulfate excretion in urine [HPO term]
- Dysostosis multiplex [HPO term]
- Fetal onset [HPO term]
- Flexion contracture [HPO term]
- Genu valgum [HPO term]
- Gingival overgrowth [HPO term]
- Hearing impairment [HPO term]
- Heparan sulfate excretion in urine [HPO term]
- Hepatomegaly [HPO term]
- Hirsutism [HPO term]
- Hydrocephalus [HPO term]
- Hydrops fetalis [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- J-shaped sella turcica [HPO term]
- Joint stiffness [HPO term]
- Kyphosis [HPO term]
- Limitation of joint mobility [HPO term]
- Loud snoring [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Metatarsus adductus [HPO term]
- Narrow greater sciatic notch [HPO term]
- Neurodegeneration [HPO term]
- Obstructive sleep apnea [HPO term]
- Pectus carinatum [HPO term]
- Photophobia [HPO term]
- Platyspondyly [HPO term]
- Poor speech [HPO term]
- Postnatal growth retardation [HPO term]
- Proximal tapering of metacarpals [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Talipes equinovarus [HPO term]
- Thick eyebrow [HPO term]
- Thoracolumbar kyphosis [HPO term]
- Umbilical hernia [HPO term]
- Urinary glycosaminoglycan excretion [HPO term]
- Visual impairment [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Mucopolysaccharidosis type 7 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of beta-glucuronidase (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis VII [MedDRA Preferred Term]
- Mucopolysaccharidosis type 7 [ORDO Disease]
- Mucopolysaccharidosis type 7 [ICD-11 More detail]
- Mucopolysaccharidosis type VII (disorder) [SNOMED CT concept]
- Sly Syndrome [NCIt concept]
- Sly mucopolysaccharidosis [PASCAL descriptor]
- Sly syndrome [DO Concept]
- Sly's syndrome [MedDRA LLT]
- mucopolysaccharidosis VII [MeSH concept]
- mucopolysaccharidosis type 7 [Disease (Nov.)]
- mucopolysaccharidosis vii [MeSH Descriptor]
- mucopolysaccharidosis, mps-vii [SNOMED Notion]

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