GTR Home > Conditions/Phenotypes > Mucopolysaccharidosis, MPS-III-D

Summary

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003). [from OMIM]

Available tests

32 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

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  • Hirsutism
  • Splenomegaly
  • Short neck
  • Prominent forehead
  • Dysarthria
  • Intellectual disability
  • Anteverted nares
  • Dysphagia
  • Coarse facial features
  • Ovoid thoracolumbar vertebrae
  • Joint stiffness
  • Heparan sulfate excretion in urine
  • Seizure
  • Diarrhea
  • Synophrys
  • Wide mouth
  • Thick lower lip vermilion
  • Hearing impairment
  • Low-set ears
  • Thick eyebrow
  • Hyperactivity
  • Thickened ribs
  • Dysostosis multiplex
  • Flexion contracture
  • Growth abnormality
  • Asymmetric septal hypertrophy
  • Frontal bossing
  • Coarse hair
  • Hepatomegaly
  • Drooling
  • Sleep disturbance
  • Recurrent upper respiratory tract infections
  • Cellular metachromasia
  • Depressed nasal bridge
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