Osteopetrosis, Autosomal Recessive 8

Alternative Names

  • OPTB8

Associated Genes

Sorting Nexin 10
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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

615085

Mode of Inheritance

Autosomal recessive

Gene Map Locus

7p15.2

Description

Osteopetrosis is an inherited disorder characterised by abnormal bone growth and skeletal densification. Based on the mode of inheritance or severity of symptoms, different types of osteopetrosis have been described. Autosomal recessive osteopetrosis (ARO) is an early-onset type of the disease with distinguishing features such as macrocephaly, short stature, facial nerve palsy, loss of vision, intellectual disability, hepatomegaly, anemia and other skeletal abnormalities.

Autosomal recessive osteopetrosis-8 is caused by mutations in SNX10  (Sorting Nexin 10) gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615085.1.1IraqMaleYesYes Macrocephaly; Anemia; Leukopenia; Spl...NM_001199835.1:c.46C>THomozygousAutosomal, RecessiveMégarbané A et al. 2013 Jan Proband. Cousin with...
615085.2United Arab EmiratesUnknown Hypotonia; Optic atrophy; Osteopetrosi...NM_001199835.1:c.112-1G>CHomozygousAutosomal, RecessiveAl-Shamsi et al. 2016
615085.3Saudi ArabiaMaleYes Osteopetrosis; Abnormality of eye moveme...NM_001199835.1:c.425_426delHomozygousAutosomal, RecessiveMaddirevula et al. 2018
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