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Features include always present findings: Hypocalcemic seizures, Decreased circulating parathyroid hormone level, Hypoparathyroidism, and Hyperphosphatemia and others; and common findings: Nephrocalcinosis, Tetany, Irritability, and Chvostek sign. 11 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Hypocalcemic seizures, Irritability, Cerebral calcification |
Kidneys and urinary system | 1 | Nephrocalcinosis |
Lab test results | 1 | Decreased circulating parathyroid hormone level |
Eyes | 1 | Cataract |
PTH function has not been fully characterized.
Hypoparathyroidism, familial isolated 1 is associated with mutations in the PTH gene on chromosome 11.
Genetic testing for PTH is available. Testing is considered confirmatory for diagnosis.
1 FDA-approved treatment is available for hypoparathyroidism, familial isolated 1, including PARATHYROID HORMONE (NATPARA (PARATHYROID HORMONE), approved 2015).
Brand Name | Generic Name | Mechanism | Approved | Market Status |
|---|---|---|---|---|
NATPARA (PARATHYROID HORMONE) | PARATHYROID HORMONE | — | 2015 | Available |
View trials for hypoparathyroidism, familial isolated 1
Phenotype severity distribution: 5 always present features, 4 common features.
No clinical trials have been registered for hypoparathyroidism, familial isolated 1.
2 publications have been identified in PubMed for hypoparathyroidism, familial isolated 1. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).
Jiang Y (2025). [PMID: 40256360](https://pubmed.ncbi.nlm.nih.gov/40256360/). *Osteoporos Sarcopenia*. [Basic Science / Preclinical]
Thambundit A (2024). [PMID: 39439810](https://pubmed.ncbi.nlm.nih.gov/39439810/). *JCEM Case Rep*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:58 PM UTC
Online Mendelian Inheritance in Man