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Osteopetrosis with renal tubular acidosis

Disease definition

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

ORPHA:2785

Classification level: Disorder
  • Synonym(s):
    • Carbonic anhydrase 2 deficiency
    • Guibaud-Vainsel syndrome
    • Marble brain disease
    • Mixed RTA
    • Mixed renal tubular acidosis
    • Renal tubular acidosis type 3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.2
  • OMIM: 259730  267200
  • UMLS: C1849435
  • MeSH: C536058
  • GARD: 4154
  • MedDRA: -

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