familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Findings
No curated finding names familial isolated hypoparathyroidism due to agenesis of parathyroid gland yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).
Definition from the Mondo Disease Ontology (MONDO:0010618), read 2026-09-29. CC BY 4.0.
Features
8 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.
- Congenital hypoparathyroidismHPOHP:0008198
- Obligate (100% of cases)
- HypocalcemiaHPOHP:0002901
- Obligate (100% of cases)
- Parathyroid agenesisHPOHP:0008211
- Obligate (100% of cases)
- HypercalciuriaHPOHP:0002150
- Very frequent (80% to 99% of cases)
- HyperphosphatemiaHPOHP:0002905
- Very frequent (80% to 99% of cases)
- Hypocalcemic seizuresHPOHP:0002199
- Very frequent (80% to 99% of cases)
- Male infertilityHPO
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
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: familial isolated hypoparathyroidism due to agenesis of parathyroid gland
- Also called
- X-linked hypoparathyroidism