Synonym(s): - Carbonic anhydrase 2 deficiency - Guibaud-Vainsel syndrome - Marble brain disease - Mixed RTA - Mixed renal tubular acidosis - Renal tubular acidosis type 3
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 2 OMIM references - See 1 MeSH reference: C536058
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CA2	P00918	611492

- Anaemia
- Autosomal recessive inheritance
- Bone pain
- Epiphyseal anomaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Genu valgum
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mutiple fractures / bone fragility
- Osteonecrosis / bone infarction
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Osteosclerosis / osteopetrosis / bone condensation
- Renal tubular defect / tubulopathy
- Splenomegaly

- Intracranial / cerebral calcifications
- Multiple caries
- Peripheral neuropathy
- Prognathism / prognathia
- Thrombocytopenia / thrombopenia
- Tooth shape anomaly

- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Visual loss / blindness / amblyopia