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Questions about rare diseases?
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Disease at a Glance

Summary
Hypoparathyroidism-sensorineural deafness-renal disease syndrome (HDR syndrome), also known as Barakat syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism, sensorineural deafness, and renal (kidney) disease. However, specific symptoms and severity can vary. About 65% of people with Barakat syndrome have all three of these features, while the others have various combinations of these features. Some people with Barakat syndrome have one or more of these as well as additional features. Hypoparathyroidism leads to low levels of calcium in the blood (hypocalcemia), which can cause symptoms such as muscle pain, muscle spasms, seizures, and rarely, cardiomyopathy. Hearing loss is the most consistent feature of Barakat syndrome. It is usually bilateral and can range from moderate to profound. The type of kidney disease present can vary from person to person. For example, some people with Barakat syndrome are born with structural kidney or urinary tract abnormalities (underdeveloped or abnormally-formed), while others may have functional abnormalities (such as nephrotic syndrome, hematuria, renal tubular acidosis, or chronic kidney disease). Various additional features have been reported in some people with Barakat syndrome such as polycystic ovaries, distinctive facial features, ischemic stroke, retinitis pigmentosa, intellectual disability, growth failure, congenital heart disease, and other birth defects. Most cases of Barakat syndrome are caused by genetic changes in the GATA3 gene, or by a missing piece (deletion) of genetic material on chromosome 10 that includes the GATA3 gene. Inheritance is autosomal dominant. In some cases, the genetic cause is unknown. Barakat syndrome can be clinically diagnosed (without genetic testing) in a person with the complete triad of hypoparathyroidism, sensorineural deafness, and renal disease; or, in a person with two of these features who also has a positive family history. For those who have only deafness or renal disease, and for others who do not fit this criteria, genetic testing that identifies a GATA3 genetic change is needed to confirm the diagnosis.
Summary
Hypoparathyroidism-sensorineural deafness-renal disease syndrome (HDR syndrome), also known as Barakat syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism, sensorineural deafness, and renal (kidney) disease. However, specific symptoms and severity can vary. About 65% of people with Barakat syndrome have all three of these features, while the others have various combinations of these features. Some people with Barakat syndrome have one or more of these as well as additional features. Hypoparathyroidism leads to low levels of calcium in the blood (hypocalcemia), which can cause symptoms such as muscle pain, muscle spasms, seizures, and rarely, cardiomyopathy. Hearing loss is the most consistent feature of Barakat syndrome. It is usually bilateral and can range from moderate to profound. The type of kidney disease present can vary from person to person. For example, some people with Barakat syndrome are born with structural kidney or urinary tract abnormalities (underdeveloped or abnormally-formed), while others may have functional abnormalities (such as nephrotic syndrome, hematuria, renal tubular acidosis, or chronic kidney disease). Various additional features have been reported in some people with Barakat syndrome such as polycystic ovaries, distinctive facial features, ischemic stroke, retinitis pigmentosa, intellectual disability, growth failure, congenital heart disease, and other birth defects. Most cases of Barakat syndrome are caused by genetic changes in the GATA3 gene, or by a missing piece (deletion) of genetic material on chromosome 10 that includes the GATA3 gene. Inheritance is autosomal dominant. In some cases, the genetic cause is unknown. Barakat syndrome can be clinically diagnosed (without genetic testing) in a person with the complete triad of hypoparathyroidism, sensorineural deafness, and renal disease; or, in a person with two of these features who also has a positive family history. For those who have only deafness or renal disease, and for others who do not fit this criteria, genetic testing that identifies a GATA3 genetic change is needed to confirm the diagnosis.
Read More
Resource(s) for Medical Professionals and Scientists on This Disease:
  • Orphanet  provides GARD with information for this disease.
  • RARe-SOURCE™  offers rare disease gene variant annotations and links to rare disease gene literature.

About Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Population Estimate:This section is currently indevelopment.
  • Symptoms:May start to appear at any time in life.
  • Cause:This disease is caused by changes to the number or structure of a person’s chromosomes.
  • Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
  • Categories:Birth DefectsGenetic DiseasesKidney DiseasesEndocrine Diseases
When Do Symptoms of Hypoparathyroidism-sensorineural deafness-renal disease syndrome Begin?
Symptoms of this disease may start to appear at any time in life.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
Symptoms may start to appear at any time in life.
This information comes from Orphanet

Symptoms

The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.

The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
Endocrine System Endocrine System

18 Symptoms

Tile View
List View
Tile View
List View

Endocrine System

The endocrine system is made up of a series of glands that produce and secrete hormones throughout the body, including the thyroid, pituitary, pineal, and adrenal glands, and the thymus, pancreas, testes, and ovaries. When endocrine glands produce too much or too little hormone, health problems such as weight gain, high blood pressure, and changes in sleep, mood, and behavior can occur. Disease of the endocrine can be diagnosed and treated by an endocrinologist.
Medical Term

Hypoparathyroidism

Frequency
Uncommon
Always
Always
Always
Description

A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.

A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.

Synonym

Decreased parathyroid hormone secretion; Low parathyroid hormone

Decreased parathyroid hormone secretion; Low parathyroid hormone

18 Symptoms
This information comes from the Human Phenotype Ontology (HPO)

Causes

Genetic Mutations

Genetic mutations may be inherited, they may occur randomly as cells divide, or they may result from other factors such as contracted viruses or exposure to harmful environmental elements.
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.
Can This Disease Be Passed Down From Parent to Child?

Yes. It is possible for a biological parent to pass down genetic mutations that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team. This tool from the Surgeon General can help you collect your family health history.

There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD's current data, this disease can be inherited in the following pattern(s):

Autosomal Dominant

Autosomal dominant is an inheritance pattern of some genetic diseases. A child only needs to inherit a copy of the mutated gene from one biological parent to be affected.
Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

Find Your Community

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page. Request an update or to have your organization added to GARD. 

Patient Organizations

9 Organizations

Organization Name

Who They Serve

Helpful Links

Country

HypoPARAthyroidism Association, Inc.
People With

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Helpful Links
Country

United States

Hypopara UK
People With

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Helpful Links
Country

United Kingdom

National Kidney Federation
People With

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Helpful Links
Country

United Kingdom

National Kidney Foundation
People With

Kidney Diseases

Helpful Links
Country

United States

Renal Support Network
People With

Kidney Diseases

Helpful Links
Country

United States

EveryLife Foundation for Rare Diseases
People With

Rare Diseases

Helpful Links
Country

United States

Genetic Alliance
People With

Rare Diseases

Helpful Links
Country

United States

Global Genes
People With

Rare Diseases

Helpful Links
Country

United States

National Organization for Rare Disorders
People With

Rare Diseases

Helpful Links
Country

United States

Participating in Clinical Studies

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies  with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

Join the All of Us Research Program!

The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Read More

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Read More

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies  with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

Join the All of Us Research Program!

The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Search ClinicalTrials.gov for this disease
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
1-888-205-2311
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Contact GARD
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Search ClinicalTrials.gov for this disease
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
1-888-205-2311
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Contact GARD
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
About the Disease

Learn about symptoms, cause, support, and research for a rare disease. 

Getting a Diagnosis

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Resources and Support

Find resources for patients and caregivers that address the challenges of navigating life with a rare disease.

Getting a Diagnosis

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Last Updated: February 2024