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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
5%-29% of people have these symptoms
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Brachydactyly	Short fingers or toes	0001156
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Delayed eruption of teeth	Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]	0000684
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Full cheeks	Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ]	0000293
Hypoplasia of dental enamel	Underdeveloped teeth enamel	0006297
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Obesity	Having too much body fat	0001513
Osteoporosis		0000939
Pseudohypoparathyroidism		0000852
Round face	Circular face Round facial appearance Round facial shape [ more ]	0000311
Short metacarpal	Shortened long bone of hand	0010049
Short metatarsal	Short long bone of foot	0010743
Short neck	Decreased length of neck	0000470
Short stature	Decreased body height Small stature [ more ]	0004322

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis includes PHP 1a, PHP 1c and 2q37 microdeletion syndrome (see these terms). Visit the Orphanet disease page for more information.

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 related to Pseudopseudohypoparathyroidism. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

HypoPARAthyroidism Association, Inc. (HPTH )
P.O. Box 2258
Idaho Falls, ID 83403
Toll-free: 866-213-0394
Telephone: +1-208-524-3857
E-mail: jsanders@hypopara.org
Website: https://www.hypopara.org/

Do you know of an organization? We want to hear from you.

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

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
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

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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

Have a question? Contact a GARD Information Specialist.

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.