Osteopetrosis, Autosomal Recessive 5

Alternative Names

  • OPTB5
  • Osteopetrosis, Infantile Malignant 3
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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

259720

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6q21

Description

Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
259720.1.1KuwaitFemaleYesYes Osteopetrosis; Autosomal recessive inhe...NM_014028.4:c.415_416delHomozygousAutosomal, RecessiveRamírez et al. 2004 Had an affected dece...
259720.2KuwaitMaleYes Osteopetrosis; Autosomal recessive inhe...NM_014028.4:c.415_416delHomozygousAutosomal, RecessivePangrazio et al. 2006
259720.3.1LebanonYesYes Hypochromic anemia; Pancytopenia ; I...NM_014028.4:c.36T>AHomozygousAutosomal, RecessivePangrazio et al. 2006 Had an affected dece...
259720.3.2LebanonMaleYesYes Anemia; Thrombocytopenia ; Increased b...NM_014028.4:c.36T>AHomozygousAutosomal, RecessiveSouraty et al. 2007 Sibling of 259720.3....
259720.4KuwaitFemaleYesYes Osteopetrosis; Cerebral atrophy; Opt...NM_014028.4:c.415_416delHomozygousAutosomal, RecessivePangrazio et al. 2006 Had three similarly ...
259720.5LebanonMaleNoYes Hypotonia; Optic atrophy; Increased bone...NM_014028.4:c.949+5G>AHomozygousAutosomal, RecessiveSouraty et al. 2007
259720.6Saudi ArabiaFemaleYes Hepatosplenomegaly; Anemia; Micrognathia...NM_014028.4:c.415_416delHomozygousAutosomal, RecessiveMaddirevula et al. 2018
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