pseudohypoparathyroidism type IB
MeSH: C548075ORPHA: 94089
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with pseudohypoparathyroidism type IB, sourced from HPO and Orphanet clinical annotations.
PseudohypoparathyroidismHypocalcemiaHyperphosphatemiaElevated circulating parathyroid hormone levelLow urinary cyclic AMP response to PTH administrationFull cheeksRound faceShort neckCataractNystagmusDelayed eruption of teethShort statureDepressed nasal bridgeEnamel hypoplasiaConjunctivitisDepressionIrritabilityAnxietyHyporeflexiaProlonged QT intervalDyspneaDiaphyseal sclerosisMuscle spasmParesthesiaHypocalcemic tetanyMyoclonic spasmsCortical subperiosteal resorption of humeral metaphysesIncreased bone density with cystic changesIncreased bone mineral densityAbdominal symptomLaryngeal dystoniaDyskinesiaChest painDecreased response to growth hormone stimulation testHypocalcemic seizuresPituitary resistance to thyroid hormone
Classification & Codes
MeSH Code
C548075Orphanet Code
ORPHA:94089pseudohypoparathyroidism type IB
| MeSH | C548075 |
| Orphanet | ORPHA:94089 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO