type 1 familial Hypocalciuric hypercalcemia

A heritable form of hypercalcemia that is transmitted as an autosomal dominant trait with a high degree of PENETRANCE. It is characterized by chronic elevation of serum calcium levels, very low urinary calcium excretion, normal to slightly elevated circulating PARATHYROID HORMONE levels, and hypermagnesemia. Affected individuals are usually asymptomatic, but CHONDROCALCINOSIS and PANCREATITIS may occur in some cases. Mutations in the CASR gene have been identified. OMIM: 145980

Also Known As:

Hypocalciuric hypercalcemia, familial, type 1; Familial Benign Hypercalcemia 1; Familial benign hypercalcemia type 1; Familial hypocalciuric hypercalcemia; Hypercalcemia, Familial Benign; Hypercalcemia, familial benign type 1; Hypocalciuric Hypercalcemia, Familial, Type I

Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Water-Electrolyte Imbalance: 54
    - Hypercalcemia: 8166
      - type 1 familial Hypocalciuric hypercalcemia: 197
  - Calcium Metabolism Disorders: 47
    - Hypercalcemia: 8166
      - type 1 familial Hypocalciuric hypercalcemia: 197

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Disease

Drug/Important Bio-Agent (IBA)