hypoparathyroidism, familial isolated, 2
MONDO:0020798Mondo
Findings
No curated finding names hypoparathyroidism, familial isolated, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
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.
- Decreased circulating parathyroid hormone levelHPOHP:0031817
- 4 of 4 reported patients
- Hypocalcemic seizuresHPOHP:0002199
- 3 of 4 reported patients
- HypocalcemiaHPOHP:0002901
- 2 of 3 reported patients
- HyperphosphatemiaHPOHP:0002905
- 1 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.
- GCM2HGNC:4198
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: hypoparathyroidism, familial isolated, 2
- Also called
- FIH2hypoparathyroidism, familial isolated 2