Rare Endocrinology News
Disease Profile
Pseudohypoparathyroidism type 1B
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Neonatal
ICD-10
E20.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
PHP1B
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Kidney and Urinary Diseases
Summary
Pseudohypoparathyroidism type 1B (PHP1B) is a disorder characterized by lack of response (resistance) to parathyroid hormone (PTH) and other
Severity can vary considerably, even among people in the same family. Symptoms usually begin in childhood due to low calcium levels and may include numbness,
The inheritance and genetics of PHP1B is complex. PHP1B is usually sporadic (not
Treatment is lifelong, aiming to normalize calcium and PTH levels with active vitamin D metabolites such as alfacalcidol or calcitriol, and calcium supplementation.[1]
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
100% of people have these symptoms | ||
Pseudohypoparathyroidism | 0000852 | |
80%-99% of people have these symptoms | ||
Elevated circulating parathyroid |
0003165 | |
Hyperphosphatemia |
High blood phosphate levels
|
0002905 |
Low urinary cyclic AMP response to PTH administration | 0003456 | |
30%-79% of people have these symptoms | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
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 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Short neck |
Decreased length of neck
|
0000470 |
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
Abdominal symptom | 0011458 | |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Short fingers or toes
|
0001156 | |
Chest pain | 0100749 | |
Conjunctivitis |
Pink eye
|
0000509 |
Cortical subperiosteal resorption of humeral metaphyses | 0003909 | |
Depressivity |
Depression
|
0000716 |
Diaphyseal sclerosis |
Increased bone density in shaft of long bone
|
0003034 |
Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
Dyspnea |
Trouble breathing
|
0002094 |
Hypocalcemic tetany | 0003472 | |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Increased bone density with cystic changes | 0005700 | |
Irritability |
Irritable
|
0000737 |
Laryngeal |
0012049 | |
Muscle spasm | 0003394 | |
Myoclonic spasms | 0003739 | |
Obesity |
Having too much body fat
|
0001513 |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 |
Prolonged QT interval | 0001657 | |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
1%-4% of people have these symptoms | ||
Growth hormone deficiency | 0000824 | |
Hypocalcemic |
Low calcium seizures
|
0002199 |
Pituitary resistance to thyroid hormone | 0008227 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Hypocalcemia |
Low blood calcium levels
|
0002901 |
Sporadic |
No previous family history
|
0003745 |
Cause
Methylation is a chemical reaction that attaches small
Epigenetic changes involving PHP1B can be caused by a maternal
Diagnosis
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.
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
|
---|
Differential diagnoses include primary hypoparathyroidism (which can be ruled out by the absence of hypercalciuria), secondary hyperparathyroidism, autoimmune polyendocrinopathy (see this term), and vitamin D deficiency. It should also be excluded from other forms of PHP (see this term) based on the absence of Albright hereditary osteodystrophy (AHO; see this term) and normal expression of Gs protein.
Visit the Orphanet disease page for more information.
|
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
-
American Thyroid Association
6066 Leesburg Pike, Suite 550
Falls Church, VA 22041
Toll-free: 800–THYROID (849–7643)
Telephone: 703–998–8890
Fax: 703–998–8893
E-mail: [email protected]
Website: https://www.thyroid.org -
Hormone Health Network
Toll-free: 1-800-HORMONE (1-800-467-6663)
E-mail: [email protected]
Website: https://www.hormone.org -
Hypopara UK
6 The Meads
East Grinstead
West Sussex, RH19 4DF United Kingdom
Telephone: 01342 316315
E-mail: [email protected]
Website: https://hypopara.org.uk/home.php -
HypoPARAthyroidism Association, Inc. (HPTH )
695 Montecito Ct
Lemoore, CA 93245
Telephone: +1-559-817-7170
E-mail: [email protected]
Website: https://hypopara.org/ -
The Endocrine Society
8401 Connecticut Avenue, Suite 900
Chevy Chase, MD 20815
Toll-free: 888–363–6274
Telephone: 301–941–0200
Fax: 301–941–0259
E-mail: [email protected]
Website: https://www.endo-society.org
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.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Pseudohypoparathyroidism type 1B. Click on the link to view a sample search on this topic.
References
- Giovanna Mantovani. Pseudohypoparathyroidism type 1B. Orphanet. October, 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089.
- Haldeman-Englert CR, Hurst ACE, Levine MA. Disorders of GNAS Inactivation. GeneReviews. October 26, 2017; https://www.ncbi.nlm.nih.gov/books/NBK459117/.
- Cassandra L. Kniffin. PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B. OMIM. June 2010; https://omim.org/entry/603233.
- Poradosu S, Bravenboer B, Takatani R, Jüppner H. Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus. BMJ Case Rep. May 11, 2016; 2016:
- Beckwith-Wiedeman syndrome. Genetics Home Reference. June, 2015; https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome#genes.
- Epigenetics. NHGRI Talking Glossary. https://www.genome.gov/glossary/index.cfm?id=528.
- HM LUK, IFM LO, TMF TONG, KKS LAI, STS LAM. Pseudohypoparathyroidism Type 1b: First Case Report in Chinese and Literature Review. HK J Paediatr. 2015; 20:32-36.
- Valentina Donghi, Stefano Mora, Ilaria Zamproni, Giuseppe Chiumello and Giovanna Weber. Pseudohypoparathyroidism, an often delayed diagnosis: a case series. Cases Journal. 2009; https://www.casesjournal.com/content/2/1/6734.
Rare Endocrinology News