Familial isolated hypoparathyroidism due to impaired PTH secretion

Orpha code: 189466OMIM code: 146200

Definition

A rare genetic endocrine disease characterized by impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands not causing other endocrine or developmental disturbances. Complications include impaired renal function, psychomotor and growth delay, delayed dentition, and cataracts.

Disease data
Classification

Clinical subtype

ORPHA code
189466
OMIM code
146200
ICD10 code
E20.8
ICD11 code
5A50.0Y

No additional description.

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