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autosomal recessive osteopetrosis 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include very common findings: Osteopetrosis, Renal tubular acidosis, and Abnormal circulating enzyme concentration or activity; and common findings: Basal ganglia calcification, Elevated serum acid phosphatase, Short stature, and Distal renal tubular acidosis and others. 69 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Cerebral calcification, Intellectual disability, Global developmental delay
Eyes	5	Optic nerve compression, Visual impairment, Abnormal retinal morphology
Kidneys and urinary system	4	Distal renal tubular acidosis, Renal tubular acidosis, Proximal renal tubular acidosis
Bones and joints	4	Osteopetrosis, Recurrent fractures, Bone marrow hypocellularity
Blood and immune system	4	Low red blood cell count (anemia), Low platelet count (thrombocytopenia), Low blood cell counts (all types) (pancytopenia)
Head and neck	4	Abnormal facial shape, Thick lower lip vermilion, High palate
Lab test results	2	Elevated serum acid phosphatase, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Growth and development	2	Short stature, Failure to thrive
Digestive system	2	Hepatosplenomegaly, Enlarged liver (hepatomegaly)
Muscles	2	Damage to the optic nerve (optic atrophy), Retinal atrophy
Lungs and breathing	2	High blood pressure in lung arteries (pulmonary arterial hypertension), Obstructive sleep apnea
Ears	1	Conductive hearing impairment
Metabolism	1	Metabolic acidosis
Heart and blood vessels	1	High blood pressure in lung arteries (pulmonary arterial hypertension)

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autosomal recessive osteopetrosis 3

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autosomal recessive osteopetrosis 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team