Hurler syndrome

Preferred Label : Hurler syndrome;

CISMeF acronym : MPS1-H;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mucopolysaccharidosis type ih; MPS1-H;

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), Scheie (MPS IS; 607016), and Hurler-Scheie (MPS IH/S; 607015) 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). MPS I is more frequent than MPS II (Hunter syndrome; 309900), which has no corneal clouding and pursues a slower course.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-L-iduronidase gene (IDUA, 252800.0001);

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

Prefixed ID : #607014;

Details

Origin ID

607014;

UMLS CUI

C0086795;

Automatic exact mappings (from CISMeF team)
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
- Screaming syndrome [MedDRA LLT]
- Syndrome screaming [MedDRA LLT]
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis I [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hurler Syndrome [NCIt concept]
- Hurler syndrome [Disease (Nov.)]
- Hurler syndrome [PASCAL descriptor]
- Hurler syndrome [Radlex concept]
- Hurler syndrome [ORDO Disease]
- Hurler's syndrome [MedDRA LLT]
- Mucopolysaccharidosis type 1H [ICD-11 More detail]
- Mucopolysaccharidosis type I-H (disorder) [SNOMED CT concept]
- hurler syndrome [MeSH concept]
- mucopolysaccharidosis Ih [DO Concept]
DO Cross reference
- mucopolysaccharidosis Ih [DO Concept]
Genes related to phenotype
- Alpha-L-iduronidase [OMIM gene]
HPO term(s)
- Abnormal CNS myelination [HPO term]
- Anteverted nares [HPO term]
- Aortic regurgitation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biconcave vertebral bodies [HPO term]
- Bilateral ptosis [HPO term]
- Broad nasal tip [HPO term]
- C1-C2 subluxation [HPO term]
- Calvarial hyperostosis [HPO term]
- Cardiomyopathy [HPO term]
- Coarse facial features [HPO term]
- Constrictive median neuropathy [HPO term]
- Corneal opacity [HPO term]
- Coxa valga [HPO term]
- Cranial hyperostosis [HPO term]
- Depressed nasal bridge [HPO term]
- Dermatan sulfate excretion in urine [HPO term]
- Diaphyseal thickening [HPO term]
- Dysostosis multiplex [HPO term]
- Endocardial fibroelastosis [HPO term]
- Enlarged tonsils [HPO term]
- Flared iliac wing [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Gingival overgrowth [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Heparan sulfate excretion in urine [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hernia [HPO term]
- Hirsutism [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the femoral head [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- J-shaped sella turcica [HPO term]
- Joint stiffness [HPO term]
- Kyphosis [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Metaphyseal widening [HPO term]
- Microdontia [HPO term]
- Mitral regurgitation [HPO term]
- Neurodegeneration [HPO term]
- Opacification of the corneal stroma [HPO term]
- Progressive neurologic deterioration [HPO term]
- Protuberant abdomen [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Retinal degeneration [HPO term]
- Short clavicles [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Thick vermilion border [HPO term]
- Umbilical hernia [HPO term]
- Urinary glycosaminoglycan excretion [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Hurler syndrome [ORDO Disease]
- Mucopolysaccharidosis type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dysostosis multiplex [HPO term]
- Dysostosis multiplex (disorder) [SNOMED CT concept]
- Hurler Syndrome [NCIt concept]
- Hurler syndrome [ORDO Disease]
- Hurler syndrome [Radlex concept]
- Hurler syndrome [PASCAL descriptor]
- Hurler syndrome [Disease (Nov.)]
- Hurler's disease [MedDRA LLT]
- Hurler's syndrome [MedDRA LLT]
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- MPS I H [MedDRA LLT]
- Mucopolysaccharidosis type 1H [ICD-11 More detail]
- Mucopolysaccharidosis type I-H (disorder) [SNOMED CT concept]
- hurler syndrome [MeSH concept]
- mucopolysaccharidosis Ih [DO Concept]
- mucopolysaccharidosis, mps-i-h [SNOMED Notion]

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