familial hypoparathyroidism
MONDO:0016390Mondo
Findings
No curated finding names familial hypoparathyroidism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.
Definition from the Mondo Disease Ontology (MONDO:0016390), read 2026-09-29. CC BY 4.0.
Features
19 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.
- Abnormal circulating calcium-phosphate regulating hormone concentrationHPOHP:0100530
- Very frequent (80% to 99% of cases)
- HypocalcemiaHPOHP:0002901
- Very frequent (80% to 99% of cases)
- HypoparathyroidismHPOHP:0000829
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Cerebral calcificationHPOHP:0002514
- Frequent (30% to 79% of cases)
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
- HyperphosphatemiaHPOHP:0002905
- Frequent (30% to 79% of cases)
- Hypocalcemic tetanyHPOHP:0003472
- Frequent (30% to 79% of cases)
Show the remaining 7
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Cerebellar calcificationsHPOHP:0007352
- Occasional (5% to 29% of cases)
- Globus pallidus calcificationHPOHP:0031627
- Occasional (5% to 29% of cases)
- LaryngospasmHPOHP:0025425
- Occasional (5% to 29% of cases)
- NephropathyHPOHP:0000112
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: familial hypoparathyroidism
- Also called
- Familial Isolated Hypoparathyroidismhypoparathyroidism familial isolatedhypoparathyroidism, familialhypoparathyroidism, familial isolated