Osteopetrosis with renal tubular acidosis: genes and variants
Osteopetrosis with renal tubular acidosis is linked to 1 analyzed protein (CA2). 2 DNA variants are known to cause it; 33 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Osteopetrosis with renal tubular acidosis
CA2: Carbonic anhydrase 2
It rapidly interconverts carbon dioxide and bicarbonate, supporting acid-base balance, renal acidification, respiration, bone remodeling, and fluid secretion. Biallelic loss-of-function variants cause carbonic anhydrase II deficiency, with osteopetrosis, renal tubular acidosis, and cerebral calcification.
2 disease-causing and 33 uncertain variants in CA2 are linked to Osteopetrosis with renal tubular acidosis.
Known disease-causing variants in Osteopetrosis with renal tubular acidosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CA2 Q92P | 92 | Alpha-carbonic anhydrase | Disease-causing (★★) |
| CA2 H107Y | 107 | Alpha-carbonic anhydrase | Disease-causing |
Diseases related to Osteopetrosis with renal tubular acidosis
- Epilepsy, also linked to CA2
- Lennox-Gastaut syndrome, also linked to CA2
Frequently asked questions
Which genes are linked to Osteopetrosis with renal tubular acidosis?
In CATVariant, Osteopetrosis with renal tubular acidosis is linked to 1 analyzed protein: CA2 (Carbonic anhydrase 2).
How many genetic variants are linked to Osteopetrosis with renal tubular acidosis?
42 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 33 are of uncertain significance or have conflicting reports.
Which uncertain variants in Osteopetrosis with renal tubular acidosis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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