autosomal recessive osteopetrosis 3
Findings
No curated finding names autosomal recessive osteopetrosis 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
Definition from the Mondo Disease Ontology (MONDO:0009818), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
60 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral calcificationHPOHP:0002514
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Distal renal tubular acidosisHPOHP:0008341
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- OsteopetrosisHPOHP:0011002
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Renal tubular acidosisHPOHP:0001947
Show the remaining 48
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HypocalcemiaHPOHP:0002901
- Frequent (30% to 79% of cases)
- Proximal renal tubular acidosisHPOHP:0002049
- Frequent (30% to 79% of cases)
- Recurrent fracturesHPOHP:0002757
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Abnormal periventricular white matter morphologyHPOHP:0002518
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CA2HGNC:1373
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
15 names
Resolves to: autosomal recessive osteopetrosis 3
- Also called
- autosomal recessive osteopetrosis type 3Autosomal Recessive osteopetrosis, type 3CA2 osteopetrosis (disease)carbonic anhydrase 2 deficiencycarbonic anhydrase II deficiencyGuibaud-Vainsel syndromemarble brain diseasemixed renal tubular acidosismixed RTAOPTB3osteopetrosis (disease) caused by mutation in CA2osteopetrosis with renal tubular acidosisosteopetrosis, autosomal recessive 3, with renal tubular acidosisosteopetrosis, autosomal recessive type 3renal tubular acidosis type 3