multicentric carpo-tarsal osteolysis with or without nephropathy
Findings
No curated finding names multicentric carpo-tarsal osteolysis with or without nephropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0008152), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
38 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.
- Ankle painHPOHP:0030840
- 9 of 9 reported patients
- Bilateral elbow dislocationsHPOHP:0005021
- 1 of 1 reported patient
- Bilateral renal atrophyHPOHP:0012586
- 1 of 1 reported patient
- Carpal osteolysisHPOHP:0001495
- 29 of 29 reported patients
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- 1 of 1 reported patient
- Inability to walkHPO
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.
- MAFBHGNC:6408
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: multicentric carpo-tarsal osteolysis with or without nephropathy
- Also called
- idiopathic multicentric osteolysis with or without nephropathy