Autosomal recessive infantile hypercalcemia

Orpha code: 300547OMIM code: 143880

Definition

A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

Disease data
Classification

Disease

Synonyms
Familial infantile hypercalcemia with suppressed intact parathyroid hormone
Familial infantile hypercalcemia with suppressed intact parathyroid hormone
ORPHA code
300547
OMIM code
143880
ICD10 code
E83.5
ICD11 code
-

No additional description.

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