autosomal dominant hypocalcemia
Findings
No curated finding names autosomal dominant hypocalcemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistent normal or elevated calciuria.
Definition from the Mondo Disease Ontology (MONDO:0018543), read 2026-09-29. CC BY 4.0.
Features
31 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.
- AnxietyHPOHP:0000739
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Cortical myoclonusHPOHP:0040148
- Very frequent (80% to 99% of cases)
- DepressionHPOHP:0000716
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- Emotional labilityHPOHP:0000712
- Very frequent (80% to 99% of cases)
- Fatigable weaknessHPOHP:0003473
- Very frequent (80% to 99% of cases)
- HypercalciuriaHPOHP:0002150
- Very frequent (80% to 99% of cases)
- HypocalcemiaHPO · MondoHP:0002901
- Very frequent (80% to 99% of cases)
- ParesthesiaHPOHP:0003401
- Very frequent (80% to 99% of cases)
- Writer's crampHPOHP:0002356
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
Show the remaining 19
- Abnormal fingernail morphologyHPOHP:0001231
- Frequent (30% to 79% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Frequent (30% to 79% of cases)
- Abnormal pattern of respirationHPOHP:0002793
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: autosomal dominant hypocalcemia
- Also called
- AD hypocalcemiahypocalcemia, autosomal dominant