Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Search for a rare disease
Osteopetrosis with renal tubular acidosis
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
ORPHA:2785
Classification level: Disorder
- Carbonic anhydrase 2 deficiency
- Guibaud-Vainsel syndrome
- Marble brain disease
- Mixed RTA
- Mixed renal tubular acidosis
- Renal tubular acidosis type 3
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
Prevalence of this disorder is not known. Fewer than 100 cases have been reported to date. Many reports involved families of North African and Middle Eastern descent, but cases have been documented worldwide.
Patients present a triad of mild osteopetrosis, mixed proximal and distal RTA, and intracerebral calcifications. Other clinical manifestations include fractures, growth failure and short stature, developmental delay, intellectual deficit, dental malocclusions/malalignment, cranial nerve compression and hearing impairment.
Osteopetrosis with renal tubular acidosis is caused by mutations in the CA2 gene (8q22) encoding carbonic anhydrase II.
Diagnosis is based on radiological findings in the presence of acidosis and intracerebral calcifications, and can be confirmed by molecular genetic testing.
Antenatal diagnosis is possible if the mutation(s) causing the condition in the family are known.
Transmission is autosomal recessive.
Treatment is symptomatic. Referral to a renal physician to manage the acidosis is recommended.
Severity is variable but the disorder has a milder course than in patients with classic osteopetrosis.
Last update: October 2012 - Expert reviewer(s): Dr Ravi SAVARIRAYAN - Dr Zornitza STARK
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
General public
Guidelines
Disease review articles
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (58)
- Clinical trial(s) (1)
- Biobank(s) (13)
- Registry(ies) (32)
- Network of experts (8)
Newborn screening