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Autosomal dominant osteopetrosis 2

Synonyms
ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT; Albers-Schoenberg disease; Albers-Schonberg disease; Albers-Schönberg osteopetrosis; Autosomal Dominant Osteopetrosis Type II; MARBLE BONES, AUTOSOMAL DOMINANT; Marble bones; OSTEOSCLEROSIS FRAGILIS GENERALISATA; Osteopetroses; Osteosclerosis fragilis
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: CLCN7-Related Osteopetrosis
The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related autosomal recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII; Albers-Schönberg disease). ARO. Onset is at birth. Findings may include: fractures; reduced growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. IAO. Onset is in childhood. Findings may include: fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. ADOII. Onset is usually late childhood or adolescence. Findings may include: fractures (in any long bone and/or the posterior arch of a vertebra), scoliosis, hip osteoarthritis, and osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Cristina Sobacchi
Anna Villa
Ansgar Schulz
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Available tests

44 tests are in the database for this condition.

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Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63, CLCN7
    Summary: chloride voltage-gated channel 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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