GTR Home > Conditions/Phenotypes > Sialuria

Disease characteristics

Excerpted from the GeneReview: Sialuria
Sialuria is characterized by variable and transient signs and symptoms, especially in infancy. These include slightly flat and coarse facies, prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, and episodes of gastroenteritis, dehydration, and transient failure to thrive. Mild developmental delay and hypotonia have been neither consistent nor permanent. Learning difficulty and seizures have been observed later in childhood. Sialuria has been detected retrospectively in an adult without subjective signs or complaints of disease. The long-term outcome of the disorder is unknown to date.

Available tests

21 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

  • Also known as: DMRV, GLCNE, IBM2, NM, Uae1, GNE
    Summary: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Clinical features

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  • Splenomegaly
  • Epicanthus
  • Prominent forehead
  • Protuberant abdomen
  • Generalized hirsutism
  • Hypoplastic nipples
  • Coarse facial features
  • Periorbital fullness
  • 2-3 toe syndactyly
  • Low posterior hairline
  • Long philtrum
  • Seizure
  • Synophrys
  • Inguinal hernia
  • High palate
  • Thin upper lip vermilion
  • Hypertelorism
  • Smooth philtrum
  • Low-set ears
  • Wide nasal bridge
  • Global developmental delay
  • Long hallux
  • Abnormality of metabolism/homeostasis
  • Frontal bossing
  • Hepatomegaly
  • Scoliosis
  • Thoracic hypoplasia
  • Attention deficit hyperactivity disorder
  • Sleep apnea
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