autosomal dominant hypocalcemia 2
Findings
No curated finding names autosomal dominant hypocalcemia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.
Definition from the Mondo Disease Ontology (MONDO:0014146), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
4 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.
- HypocalcemiaHPOHP:0002901
- 2 of 2 reported patients
- Muscle spasmHPOHP:0003394
- 1 of 2 reported patients
- ParesthesiaHPOHP:0003401
- 1 of 2 reported patients
- Abnormal circulating phosphate ion concentrationHPOHP:0100529
- 0 of 2 reported patients
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.
- GNA11HGNC:4379
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: autosomal dominant hypocalcemia 2
- Also called
- autosomal dominant hypocalcemia type 2HYPOC2hypocalcemia, autosomal dominant type 2