Rare Medical News

Disease Profile

Pseudohypoparathyroidism type 1C

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

ageofonset-infancy.svg

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

rnn-autosomaldominant.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

PHP1C

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;

Summary

Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood.[1] This condition 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. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene.[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
30%-79% of people have these symptoms
Basal ganglia calcification
0002135
Brachydactyly
Short fingers or toes
0001156
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
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
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
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
Short stature
Decreased body height
Small stature

[ more ]

0004322
5%-29% of people have these symptoms
Abdominal symptom
0011458
Anxiety
Excessive, persistent worry and fear
0000739
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
Confusion
Disorientation
Easily confused
Mental disorientation

[ more ]

0001289
Conjunctivitis
Pink eye
0000509
Depressivity
Depression
0000716
Dyspnea
Trouble breathing
0002094
Hypergonadotropic hypogonadism
0000815
Hypocalcemic tetany
0003472
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Increased bone mineral density
Increased bone density
0011001
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
Short 3rd metacarpal
Shortened 3rd long bone of hand
0010041
1%-4% of people have these symptoms
Hypocalcemic seizures
Low calcium seizures
0002199
Reduced circulating prolactin concentration
0008202
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Hypogonadism
Decreased activity of gonads
0000135
Hypothyroidism
Underactive thyroid
0000821
Osteoporosis
0000939
Seizure
0001250
Short metacarpal
Shortened long bone of hand
0010049
Short metatarsal
Short long bone of foot
0010743

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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.

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

          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 1C. Online Mendelian Inheritance of Man (OMIM). March 2010; https://omim.org/entry/612462. Accessed 10/7/2011.