Hurler-scheie syndrome

Preferred Label : Hurler-scheie syndrome;

CISMeF acronym : MPS1-HS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MPS1-HS; Mucopolysaccharidosis type ih/s;

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), Scheie (MPS IS; 607016), and Hurler-Scheie (MPS IH/S) 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). Roubicek et al. (1985) presented 5 patients with alpha-L-iduronidase deficiency and a phenotype atypical for both Hurler and Scheie syndromes. They felt that the genetic compound explanation was acceptable for some cases, but that others must represent different mutations.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-L-iduronidase gene (IDUA, 252800.0012);

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

Prefixed ID : #607015;

Details

Origin ID

607015;

UMLS CUI

C0086431;

Automatic exact mappings (from CISMeF team)
- Hurler syndrome [ORDO Disease]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis I [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hurler-Scheie Syndrome [NCIt concept]
- Hurler-Scheie syndrome [Disease (Nov.)]
- Hurler-Scheie syndrome [MeSH concept]
- Hurler-Scheie syndrome [ORDO Disease]
- Hurler-Scheie syndrome [MedDRA LLT]
- Mucopolysaccharidosis IH/S [MedDRA LLT]
- Mucopolysaccharidosis type 1H/S [ICD-11 More detail]
- Mucopolysaccharidosis type I-H/S (disorder) [SNOMED CT concept]
- Scheie Syndrome [NCIt concept]
- mucopolysaccharidosis, mps-i-h/s [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis Ih/s [DO Concept]
Genes related to phenotype
- Alpha-L-iduronidase [OMIM gene]
HPO term(s)
- Aortic regurgitation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Childhood onset [HPO term]
- Contracture of the distal interphalangeal joint of the fingers [HPO term]
- Corneal opacity [HPO term]
- Depressed nasal bridge [HPO term]
- Dermatan sulfate excretion in urine [HPO term]
- Dysostosis multiplex [HPO term]
- Growth delay [HPO term]
- Hand pain [HPO term]
- Heparan sulfate excretion in urine [HPO term]
- Hepatomegaly [HPO term]
- Hirsutism [HPO term]
- Inguinal hernia [HPO term]
- Joint stiffness [HPO term]
- Kyphosis [HPO term]
- Micrognathia [HPO term]
- Mitral regurgitation [HPO term]
- Obstructive sleep apnea [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Recurrent respiratory infections [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Thenar muscle atrophy [HPO term]
- Thick vermilion border [HPO term]
- Thickened skin [HPO term]
- Tracheal stenosis [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Hurler-Scheie syndrome [ORDO Disease]
- Mucopolysaccharidosis type 1 [ORDO Disease]
See also inter- (CISMeF)
- Mucopolysaccharidosis type 1S [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hurler-Scheie Syndrome [NCIt concept]
- Hurler-Scheie syndrome [MedDRA LLT]
- Hurler-Scheie syndrome [ORDO Disease]
- Hurler-Scheie syndrome [MeSH concept]
- Mucopolysaccharidosis IH/S [MedDRA LLT]
- Mucopolysaccharidosis type 1H/S [ICD-11 More detail]
- Mucopolysaccharidosis type I-H/S (disorder) [SNOMED CT concept]
- mucopolysaccharidosis Ih/s [DO Concept]
- mucopolysaccharidosis, mps-i-h/s [SNOMED Notion]

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