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Disease Profile

Pseudohypoparathyroidism type 1A

Prevalence
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

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

PHP1A; Albright hereditary osteodystrophy with multiple hormone resistance

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;

Summary

Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parathyroid hormone levels are too low). The main symptoms are low calcium levels and high phosphate levels in the blood. This results in cataracts, dental problems, seizures, numbness, and tetany (muscle twitches and hand and foot spasms). Symptoms are generally first seen in childhood. People with this disorder are also resistant to other hormones, such as thyroid-stimulating hormone and gonadotropins. Type 1A is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. Pseudohypoparathyroidism type 1A is caused by a spelling mistake (mutation) in the GNAS gene and is inherited in an autosomal dominant manner.[1][2]

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 hormone level
0003165
Hyperphosphatemia
High blood phosphate levels
0002905
Low urinary cyclic AMP response to PTH administration
0003456
Pituitary resistance to thyroid hormone
0008227
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Short stature
Decreased body height
Small stature

[ more ]

0004322
30%-79% of people have these symptoms
Basal ganglia calcification
0002135
Brachydactyly
Short fingers or toes
0001156
Broad 1st metacarpal
Wide 1st long bone of hand
0010027
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Choroid plexus calcification
0006960
Constrictive median neuropathy
0012185
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
Ectopic ossification
0011986
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]

0000293
Growth hormone deficiency
0000824
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Increased bone mineral density
Increased bone density
0011001
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Obesity
Having too much body fat
0001513
Polyphagia
Voracious appetite
0002591
Short 4th metacarpal
Shortened 4th long bone of hand
0010044
Short 5th metacarpal
Shortened 5th long bone of hand
0010047
Short fifth metatarsal
Short 5th long bone of foot
0004704
Short neck
Decreased length of neck
0000470
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap

[ more ]

0002684
5%-29% of people have these symptoms
Abdominal symptom
0011458
Abnormal platelet function
0011869
Anxiety
Excessive, persistent worry and fear
0000739
Band keratopathy
0000585
Broad distal phalanx of the thumb
Broad outermost bone of the thumb
Wide outermost bone of thumb

[ more ]

0009642
Calcinosis
Calcium buildup in soft tissues of body
0003761
Chest pain
0100749
Choreoathetosis
0001266
Confusion
Disorientation
Easily confused
Mental disorientation

[ more ]

0001289
Conjunctivitis
Pink eye
0000509
Depressivity
Depression
0000716
Dyspnea
Trouble breathing
0002094
Hypergonadotropic hypogonadism
0000815
Hyperostosis frontalis interna
0004438
Hypertension
0000822
Hypocalcemic tetany
0003472
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Irritability
Irritable
0000737
Laryngeal dystonia
0012049
Muscle spasm
0003394
Myoclonic spasms
0003739
Oligomenorrhea
Light or infrequent menstrual periods
0000876
Osteoma cutis
0025027
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Prolonged QT interval
0001657
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Sensorineural hearing impairment
0000407
Short 3rd metacarpal
Shortened 3rd long bone of hand
0010041
Spinal cord compression
Pressure on spinal cord
0002176
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
1%-4% of people have these symptoms
Elevated calcitonin
0003528
Hypocalcemic seizures
Low calcium seizures

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

    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

      • 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 1A. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. Topiwala S. Pseudohypoparathyroidism. MedlinePlus. July 2012; https://www.nlm.nih.gov/medlineplus/ency/article/000364.htm. Accessed 10/17/2012.
          2. Pseudohypoparathyroidism type 1A. Online Mendelian Inheritance of Man (OMIM). June 2010; https://omim.org/entry/103580. Accessed 10/7/2011.

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