Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Orpha code: 2239OMIM code: 146200

Definicja

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
Klasyfikacja

Clinical subtype

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl