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Osteopetrosis-hypogammaglobulinemia syndrome

Disease definition

Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.

ORPHA:178389

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • Autosomal recessive osteopetrosis type 7
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q78.2
  • OMIM: 612301
  • UMLS: C2676766
  • MeSH: -
  • GARD: 10106
  • MedDRA: -

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