Mucopolysaccharidosis, type VI

Preferred Label : Mucopolysaccharidosis, type VI;

Symbol : MPS6;

CISMeF acronym : MPS6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : N-acetylgalactosamine-4-sulfatase deficiency; Mps VI; Arylsulfatase b deficiency; Arsb deficiency; Maroteaux-lamy syndrome;

Description : Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the arylsulfatase B gene (ARSB, 611542.0001);

Laboratory abnormalities : Arylsulfatase B deficiency in fibroblasts and white blood cells; Dermatan sulfate excretion in urine;

Prefixed ID : #253200;

Details

Origin ID

253200;

UMLS CUI

C0026709;

Currated CISMeF NLP mapping
- Deficiency of N-acetylgalactosamine-4-sulfatase (disorder) [SNOMED CT concept]
- Maroteaux Lamy syndrome [Disease (Nov.)]
- Maroteaux-Lamy Syndrome [NCIt concept]
- Maroteaux-Lamy syndrome [MedDRA LLT]
- Maroteaux-Lamy syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis VI [MedDRA Preferred Term]
- Mucopolysaccharidosis type 6 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type 6 [ORDO Disease]
- maroteaux-lamy syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis VI [DO Concept]
- mucopolysaccharidosis VI [MeSH Descriptor]
- mucopolysaccharidosis VI [MeSH concept]
DO Cross reference
- mucopolysaccharidosis VI [DO Concept]
Genes related to phenotype
- Arylsulfatase b [OMIM gene]
HPO term(s)
- Abnormal heart valve morphology [HPO term]
- Anterior wedging of L1 [HPO term]
- Anterior wedging of L2 [HPO term]
- Autosomal recessive inheritance [HPO term]
- Avascular necrosis [HPO term]
- Broad ribs [HPO term]
- Cardiomyopathy [HPO term]
- Cervical myelopathy [HPO term]
- Coarse facial features [HPO term]
- Constrictive median neuropathy [HPO term]
- Corneal opacity [HPO term]
- Depressed nasal bridge [HPO term]
- Dermatan sulfate excretion in urine [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Dolichocephaly [HPO term]
- Dysostosis multiplex [HPO term]
- Epiphyseal dysplasia [HPO term]
- Flared iliac wing [HPO term]
- Frequent upper respiratory tract infections [HPO term]
- Genu valgum [HPO term]
- Glaucoma [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- Hip dysplasia [HPO term]
- Hirsutism [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Hypoplastic acetabulae [HPO term]
- Hypoplastic iliac wing [HPO term]
- Inguinal hernia [HPO term]
- Joint stiffness [HPO term]
- Low nasal bridge [HPO term]
- Lumbar hyperlordosis [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Metaphyseal irregularity [HPO term]
- Metaphyseal widening [HPO term]
- Mildly coarse facies [HPO term]
- Opacification of the corneal stroma [HPO term]
- Ovoid vertebral bodies [HPO term]
- Prominent sternum [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Short-trunked dwarfism [HPO term]
- Small, flared iliac wings [HPO term]
- Splenomegaly [HPO term]
- Split hand [HPO term]
- Umbilical hernia [HPO term]
- Widened, irregular metaphyses [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Mucopolysaccharidosis type 6 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of N-acetylgalactosamine-4-sulfatase (disorder) [SNOMED CT concept]
- Maroteaux Lamy syndrome [Disease (Nov.)]
- Maroteaux-Lamy Syndrome [NCIt concept]
- Maroteaux-Lamy syndrome [MedDRA LLT]
- Maroteaux-Lamy syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis VI [MedDRA Preferred Term]
- Mucopolysaccharidosis type 6 [ORDO Disease]
- Mucopolysaccharidosis type 6 [ICD-11 Sub-sub category]
- maroteaux-lamy syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis VI [MeSH Descriptor]
- mucopolysaccharidosis VI [MeSH concept]
- mucopolysaccharidosis VI [DO Concept]

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