Overview
Pseudohypoparathyroidism without Albright hereditary osteodystrophy (PHP without AHO) is a rare endocrine disorder in which the body does not respond properly to parathyroid hormone (PTH), even though the parathyroid glands produce normal or even elevated amounts of it. PTH normally helps regulate calcium and phosphorus levels in the blood. In this condition, the kidneys and bones do not respond to PTH the way they should, leading to low calcium (hypocalcemia) and high phosphorus (hyperphosphatemia) in the blood. What makes this form distinct from other types of pseudohypoparathyroidism is that affected individuals do not have the physical features of Albright hereditary osteodystrophy (AHO), such as short stature, round face, shortened fingers, or subcutaneous calcifications. Symptoms are mainly related to low calcium levels and can include muscle cramps, tingling or numbness in the hands and feet, seizures, and fatigue. Some patients may also experience dental problems and mood changes. The condition is typically managed with calcium supplements and active vitamin D (calcitriol) to restore and maintain normal blood calcium and phosphorus levels. With proper treatment, many patients can lead relatively normal lives, though lifelong monitoring and medication adjustments are necessary. This condition may also be referred to as PHP without AHO or a subtype of pseudohypoparathyroidism type Ib (PHP-Ib).
Key symptoms:
Low blood calcium levelsHigh blood phosphorus levelsMuscle cramps or spasmsTingling or numbness in hands, feet, or around the mouthSeizuresFatigue and low energyMood changes such as anxiety or irritabilityDental problems including weak tooth enamelDry skinBrittle nailsCataracts in some casesElevated parathyroid hormone levels in blood tests
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventMassachusetts General Hospital — PHASE4
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Pseudohypoparathyroidism without Albright hereditary osteodystrophy.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Pseudohypoparathyroidism without Albright hereditary osteodystrophy.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Pseudohypoparathyroidism without Albright hereditary osteodystrophy.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What are my current calcium and phosphorus levels, and what should they be?,How often do I need blood and urine tests to monitor my condition?,What are the signs that my calcium is too low or too high, and what should I do?,Should I follow a special diet to help manage my calcium and phosphorus levels?,Is genetic testing recommended for my family members?,What should I do if I become sick and cannot take my medications?,Are there any long-term complications I should watch for, such as kidney or brain calcifications?
Common questions about Pseudohypoparathyroidism without Albright hereditary osteodystrophy
What is Pseudohypoparathyroidism without Albright hereditary osteodystrophy?
Pseudohypoparathyroidism without Albright hereditary osteodystrophy (PHP without AHO) is a rare endocrine disorder in which the body does not respond properly to parathyroid hormone (PTH), even though the parathyroid glands produce normal or even elevated amounts of it. PTH normally helps regulate calcium and phosphorus levels in the blood. In this condition, the kidneys and bones do not respond to PTH the way they should, leading to low calcium (hypocalcemia) and high phosphorus (hyperphosphatemia) in the blood. What makes this form distinct from other types of pseudohypoparathyroidism is tha
How is Pseudohypoparathyroidism without Albright hereditary osteodystrophy inherited?
Pseudohypoparathyroidism without Albright hereditary osteodystrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Pseudohypoparathyroidism without Albright hereditary osteodystrophy?
Yes — 1 recruiting clinical trial is currently listed for Pseudohypoparathyroidism without Albright hereditary osteodystrophy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.