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Autosomal recessive osteopetrosis

rare

An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.

Identifiers
MONDO:0019026 Orphanet:667
Part of
Autosomal recessive diseaseHereditary optic neuropathyOsteopetrosis
Also known as
autosomal recessive malignant osteopetrosis · autosomal recessive osteopetrosis (disease) · infantile malignant osteopetrosis · OPTB · osteopetrosis (disease), autosomal recessive

Subtypes

All diseases Rare only
Disease Subtypes
Autosomal recessive osteopetrosis 1
Autosomal recessive osteopetrosis 2
Autosomal recessive osteopetrosis 3
Autosomal recessive osteopetrosis 4
Autosomal recessive osteopetrosis 5
Autosomal recessive osteopetrosis 6
Autosomal recessive osteopetrosis 7
Autosomal recessive osteopetrosis 8
Leukocyte adhesion deficiency 3
Osteopetrosis, autosomal recessive 9

Rare disease

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