Scheie syndrome

Preferred Label : Scheie syndrome;

CISMeF acronym : MPS1-S; MPS5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mps V; MPS1-S; MPS5; Mucopolysaccharidosis type V; Mucopolysaccharidosis type is;

Description : The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function. Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; 607014), Hurler-Scheie (MPS IH/S; 607015), and Scheie (MPS IS) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-L-iduronidase gene (IDUA, 252800.0004);

Laboratory abnormalities : Excretion of heparan sulfate in urine; Excretion of dermatan sulfate in urine;

Prefixed ID : #607016;

Details

Origin ID

607016;

UMLS CUI

C0026708;

Automatic exact mappings (from CISMeF team)
- 40S Ribosomal Protein S27 [NCIt concept]
- Mucopolysaccharidosis type 1 [ORDO Disease]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
- mucopolysaccharidosis I [MeSH Descriptor]
Currated CISMeF NLP mapping
- Mucopolysaccharidosis V [MedDRA Preferred Term]
- Mucopolysaccharidosis type 1S [ICD-11 More detail]
- Mucopolysaccharidosis type I-S (disorder) [SNOMED CT concept]
- Scheie Syndrome [NCIt concept]
- Scheie syndrome [DO Concept]
- Scheie syndrome [Disease (Nov.)]
- Scheie syndrome [ORDO Disease]
- Scheie's syndrome [MedDRA LLT]
- mucopolysaccharidosis, mps-i-s [SNOMED Notion]
- scheie syndrome [MeSH concept]
DO Cross reference
- Scheie syndrome [DO Concept]
Genes related to phenotype
- Alpha-L-iduronidase [OMIM gene]
HPO term(s)
- Aortic regurgitation [HPO term]
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad face [HPO term]
- Cervical cord compression [HPO term]
- Constrictive median neuropathy [HPO term]
- Corneal opacity [HPO term]
- Depressed nasal bridge [HPO term]
- Dysostosis multiplex [HPO term]
- Full cheeks [HPO term]
- Genu valgum [HPO term]
- Glaucoma [HPO term]
- Mandibular prognathia [HPO term]
- Obstructive sleep apnea [HPO term]
- Pes cavus [HPO term]
- Retinal degeneration [HPO term]
- Short neck [HPO term]
- Spondylolisthesis [HPO term]
- Wide nose [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Mucopolysaccharidosis type 1 [ORDO Disease]
- Scheie syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis IS [MedDRA LLT]
- Mucopolysaccharidosis V [MedDRA Preferred Term]
- Mucopolysaccharidosis type 1S [ICD-11 More detail]
- Mucopolysaccharidosis type I-S (disorder) [SNOMED CT concept]
- Scheie Syndrome [NCIt concept]
- Scheie syndrome [ORDO Disease]
- Scheie syndrome [DO Concept]
- Scheie syndrome [Disease (Nov.)]
- Scheie's syndrome [MedDRA LLT]
- mucopolysaccharidosis, mps-i-s [SNOMED Notion]
- scheie syndrome [MeSH concept]

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