Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Orpha code: 2239OMIM code: 146200

Definition

A rare genetic endocrine disease characterized by severe hypocalcemia, seizures, hyperphosphatemia, and impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands (not affecting other endocrine glands). Complications include psychomotor and growth delay, delayed dentition, and cataracts.

Disease data
Classification

Clinical subtype

ORPHA code
2239
OMIM code
146200
ICD10 code
E20.8
ICD11 code
5A50.0Y

No additional description.

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