Pseudopseudohypoparathyroidism

Title

Other Names:

PPHP; Albright hereditary osteodystrophy without multiple hormone resistance; Pseudopseudo-Hypoparathyroidism; PPHP; Albright hereditary osteodystrophy without multiple hormone resistance; Pseudopseudo-Hypoparathyroidism; Pseudo-Pseudohypoparathyroidism See More

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases; Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases; Kidney and Urinary Diseases; Musculoskeletal Diseases; Skin Diseases See More

Summary Summary

Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones.^[1]^[2] PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain.^[3] Some people with PPHP (10%) also have learning disability.^[2] PHPP is caused by mutations in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting).^[1]

PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a). Signs and symptoms are similar, however people with PPHP do not show resistance to parathyroid hormone while people with PHP-1a do. Obesity is characteristic for PHP-1a and may be severe, while obesity is less prominent and may be absent among people with PPHP. Both PHP-1a and PPHP are caused by mutations that affect the function of the GNAS gene. But people who inherit the mutation from their mother develop PHP-1a; whereas those who inherit the mutation from their father develop PPHP.^[1]

Last updated: 3/9/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Intellectual disability	5%
Autosomal dominant inheritance	-
Brachydactyly syndrome	-
Cataract	-
Cognitive impairment	-
Delayed eruption of teeth	-
Depressed nasal bridge	-
Full cheeks	-
Hypoplasia of dental enamel	-
Nystagmus	-
Obesity	-
Osteoporosis	-
Phenotypic variability	-
Pseudohypoparathyroidism	-
Round face	-
Short metacarpal	-
Short metatarsal	-
Short neck	-
Short stature	-

Last updated: 9/1/2016

Diagnosis Diagnosis

Diagnosis of PPHP is based on the presence of features of Albright hereditary osteodystrophy (AHO) without parathyroid hormone (PTH) resistance. If there are features of AHO and resistance to PTH a different form of pseudohypoparathyroidism (PHP) will be considered. Other forms of PHP are usually ruled out by blood tests including serum calcium, phosphate and PTH. X-rays will show shortening of the fourth metacarpal (long bone of the hand) and advanced bone age. All metacarpals and metatarsals (long bones of the foot) may be affected. The diagnosis is confirmed by genetic testing identifying a mutation or change in the GNAS gene. ^[2]^[4]

Last updated: 7/11/2016

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Pseudopseudohypoparathyroidism. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudopseudohypoparathyroidism. Click on the link to view a sample search on this topic.

News & Events News & Events

News

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June 21, 2016

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I was diagnosed in my teens with pseudopseudohypoparathyroidism. I am now an adult. My question is: Is abnormal pain a symptom of this condition? I have had pain all through my body for as long I can remember, but it has gotten much worse over the past few years. I receive physical therapy and medication, but the pain is still there. The pain is along my spine and shoulders and arms and legs and head. The pain gets so bad that I get stabbing headaches and feel faint. See answer

References References

Pseudopseudohypoparathyroidism. Online Mendelian Inheritance of Man. November 2010; http://www.ncbi.nlm.nih.gov/omim/612463. Accessed 4/1/2011.
Mantovani G. Pseudopseudohypoparathyroidism. Orphanet. October 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445.
Iwase T, Nokura K, Mizuno T, Inagaki T. Spastic tetraparesis in a patient with pseudopseudohypoparathyroidism. J Neurol. 2002 Oct;249(10):1457-8; http://www.ncbi.nlm.nih.gov/pubmed/12532935. Accessed 3/18/2013.
Abraham MR. Pseudohypoparathryroidism Workup. Medscape Reference. December 11 2015; http://emedicine.medscape.com/article/124836-workup.