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autosomal dominant hypocalcemia

MeSH: C562783ORPHA: 428

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

calcium metabolism disease characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with autosomal dominant hypocalcemia, sourced from HPO and Orphanet clinical annotations.

NephrocalcinosisOptic atrophyAtypical behaviorEmotional labilityDepressionAnxietyDry skinEczematoid dermatitisAbnormal fingernail morphologyAlopeciaAbnormal nail morphologyCongestive heart failureAbdominal painHypercalciuriaWriter's crampIncreased intracranial pressureHypotensionAbnormal pattern of respirationHypocalcemiaHyperphosphatemiaHypomagnesemiaParesthesiaEMG abnormalityFatigable weaknessReduced bone mineral densityReduced consciousnessIrregular hyperpigmentationArrhythmiaHypermagnesiuriaCortical myoclonus

Classification & Codes

MeSH Code

C562783

Orphanet Code

ORPHA:428
autosomal dominant hypocalcemia
MeSHC562783
OrphanetORPHA:428
Treatments0 drug(s)
Symptoms on record30 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO