Osteopetrosis, Autosomal Recessive 7

Alternative Names

  • OPTB7
  • Osteopetrosis, Osteoclast-Poor, with Hypogammaglobulinemia
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

612301

Mode of Inheritance

Autosomal recessive

Gene Map Locus

18q21.33

Description

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. [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612301.1United Arab EmiratesMaleYes Widened subarachnoid space; Hydrocephalu...NM_003839.4:c.400G>AHomozygousAutosomal, RecessiveAlabdullatif et al. 2017
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