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Start free with EleplanFamilial isolated hypoparathyroidism due to impaired PTH secretion
ORPHA:189466Clinical subtype
What it is
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.
Key facts
- Inheritance
- Autosomal dominant, Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- <1 / 1 000 000Familial isolated hypoparathyroidism
- Age of onset
- All agesFamilial isolated hypoparathyroidism
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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