osteopetrosis, autosomal dominant 3
MONDO:0020848Mondo
Findings
No curated finding names osteopetrosis, autosomal dominant 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- AstheniaHPOHP:0025406
- 1 of 1 reported patient
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- GingivitisHPOHP:0000230
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HyperparathyroidismHPOHP:0000843
- 1 of 1 reported patient
- OsteopeniaHPOHP:0000938
- 1 of 1 reported patient
- Pectus carinatumHPOHP:0000768
- 1 of 1 reported patient
- Recurrent fracturesHPOHP:0002757
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
- Spontaneous tooth lossHPOHP:0006480
- 1 of 1 reported patient
- Thickened calvariaHPOHP:0002684
- 1 of 1 reported patient
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.
- PLEKHM1HGNC:29017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · ClinGen · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: osteopetrosis, autosomal dominant 3
- Also called
- OPTA3