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Autosomal recessive osteopetrosis

MONDO:0019026

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.

Also known as: OPTB, autosomal recessive malignant osteopetrosis, autosomal recessive osteopetrosis, autosomal recessive osteopetrosis (disease), infantile malignant osteopetrosis, osteopetrosis (disease), autosomal recessive, malignant osteopetrosis

46 clinical trials for this condition and its sub-types.

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Sub-types

Autosomal recessive osteopetrosis 1 (1) Autosomal recessive osteopetrosis 2 (1) Autosomal recessive osteopetrosis 3 (0) Autosomal recessive osteopetrosis 4 (0) Autosomal recessive osteopetrosis 5 (0) Autosomal recessive osteopetrosis 6 (0) Autosomal recessive osteopetrosis 7 (0) Autosomal recessive osteopetrosis 8 (0) Leukocyte adhesion deficiency 3 (0) Osteopetrosis, autosomal recessive 9 (0)

Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Eye disorder (97) Bone disorder (47) Human disease (14) Osteopetrosis (6) Bone remodeling disease (5) Autosomal recessive disease (4) Skeletal system disorder (4)
Trials to join now! 25 Not yet recruiting 6 Not yet finished but already full! 5 Completed 8 Terminated 2
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