Familial isolated hypoparathyroidism due to impaired PTH secretion

Orpha code: 189466OMIM code: 146200

Definicja

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
Klasyfikacja

Clinical subtype

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

No additional description.

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