Morquio syndrome C

Preferred Label : Morquio syndrome C;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Morquio syndrome, nonkeratosulfate-excreting type;

Description : Morquio syndrome is an autosomal recessive mucopolysaccharidosis characterized by short trunk dwarfism, fine corneal opacities, skeletal changes, and normal intelligence. Morquio syndromes A (MPS4A; 253000) and B (MPS4B; 253010) are caused by mutations in the N-acetylglucosamine-6-sulfate sulfatase (GALNS; 612222) and beta-galactosidase (GLB1; 611458) genes, respectively. MPS4A and MPS4B are characterized biochemically by increased urinary excretion of keratan sulfate (Beck et al., 1986). There is some evidence of an additional form of Morquio syndrome, referred to here as type C, in which urinary excretion of keratan sulfate is absent. However, McKusick (1972) suggested that the nonkeratosulfate- excreting Morquio syndrome may be allelic to other forms of Morquio syndrome.;

Inheritance : Autosomal recessive; ?MPS IVB or an allelic variety of MPS IVA;

Prefixed ID : 252300;

Details

Origin ID

252300;

UMLS CUI

C2931140;

Automatic exact mappings (from CISMeF team)
- Morquio Syndrome [NCIt concept]
- Mucopolysaccharidosis type 4 [ORDO Disease]
- mucopolysaccharidosis IV [MeSH Descriptor]
Currated CISMeF NLP mapping
- nonkeratan-sulfate-excreting morquio syndrome [MeSH Supplementary Concept]
- nonkeratan-sulfate-excreting morquio syndrome [MeSH concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Corneal opacity [HPO term]
- Dwarfism [HPO term]
- Fibroblast metachromasia [HPO term]
- Intellectual disability [HPO term]
- Moderate platyspondyly [HPO term]
- Platyspondyly [HPO term]
- Severe short stature [HPO term]
- Shoe-shaped sella turcica [HPO term]
- Slight corneal clouding [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
ORDO concept(s)
- Mucopolysaccharidosis type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nonkeratan-sulfate-excreting morquio syndrome [MeSH Supplementary Concept]
- nonkeratan-sulfate-excreting morquio syndrome [MeSH concept]

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