Barakat syndrome

Title

Other Names:

Hypoparathyroidism, sensorineural deafness, and renal dysplasia; HDR syndrome; Nephrosis, nerve deafness, and hypoparathyroidism

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Kidney and Urinary Diseases See More

Summary Summary

Barakat syndrome, also known as HDR syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism, sensorineural deafness, and r enal (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.^[1]^[2]

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).^[1]^[2] 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.^[1]^[2]^[3]

Most cases of Barakat syndrome are caused by mutations in the GATA3 gene, or by a missing piece (deletion) of genetic material on chromosome 10 that includes the GATA3 gene.^[1]^[2] Inheritance is autosomal dominant.^[3]^[2] 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 mutation is needed to confirm the diagnosis.^[1]^[2]

Treatment for Barakat syndrome depends on the symptoms present and the severity in each person. Hypocalcemia may be treated with oral calcium and calcitriol, intravenous calcium gluconate, or parathyroid hormone injection. Hearing loss may be treated with hearing amplification and/or cochlear implantation.^[1] Treatment of kidney disease depends on the abnormality present. Some minor abnormalities may not need to be treated while others may require medications, surgery, or kidney transplantation.^[1]^[2] The long-term outlook (prognosis) usually depends on the severity of kidney disease, and those with minor kidney problems have a normal life expectancy.^[1]^[2]

Last updated: 7/9/2018

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
100% of people have these symptoms
Hypoparathyroidism		0000829
Progressive sensorineural hearing impairment		0000408
Renal dysplasia		0000110
30%-79% of people have these symptoms
Hydronephrosis		0000126
Hypocalcemic seizures	Low calcium seizures	0002199
Parathyroid hypoplasia	Small parathyroid glands Underdeveloped parathyroid glands [ more ]	0000860
Polycystic kidney dysplasia		0000113
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Unilateral renal agenesis	Absent kidney on one side Missing one kidney Single kidney [ more ]	0000122
Vesicoureteral reflux		0000076
5%-29% of people have these symptoms
Diabetes mellitus		0000819
Septate vagina	Double vagina	0001153
Uterus didelphys		0003762
1%-4% of people have these symptoms
Abnormal heart morphology	Abnormality of the heart Abnormally shaped heart [ more ]	0001627
Abnormality of T cell physiology		0011840
Aplasia of the uterus	Absent uterus uterus absent [ more ]	0000151
Cleft palate		0000175
Psoriasiform dermatitis		0003765
Rod-cone dystrophy		0000510
Sensorineural hearing impairment		0000407
Severe postnatal growth retardation	Marked growth retardation Severe growth delay in children Severe postnatal growth failure [ more ]	0008850
Vaginal atresia	Abnormally closed or absent vagina	0000148
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Chronic kidney disease		0012622
Distal renal tubular acidosis		0008341
Hematuria	Blood in urine	0000790
Nephrocalcinosis	Too much calcium deposited in kidneys	0000121
Nephrotic syndrome		0000100
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Proximal renal tubular acidosis		0002049
Thickening of the glomerular basement membrane		0004722

Showing of 31 |

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Last updated: 11/1/2018

Diagnosis 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.
Orphanet lists international laboratories offering diagnostic testing for this condition.

Statistics Statistics

Barakat syndrome is considered to be very rare, but the exact prevalence is not known. Less than 200 people with Barakat syndrome (from various countries) have been reported in the medical literature. It is not known to be more common among people of any particular gender or ethnic group.^[2]

Last updated: 6/21/2018

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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
Differential diagnoses include familial idiopathic hypoparathyroidism, progressive sensorineural deafness without renal disease, autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay, and deletion 22q11 syndrome. HDR syndrome should be considered in infants prenatally diagnosed with chromosome 10p defect or congenital anomalies of the kidney and urinary tract. Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

Differential diagnoses include familial idiopathic hypoparathyroidism, progressive sensorineural deafness without renal disease, autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay, and deletion 22q11 syndrome. HDR syndrome should be considered in infants prenatally diagnosed with chromosome 10p defect or congenital anomalies of the kidney and urinary tract.

Visit the Orphanet disease page for more information.

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

American Association of Kidney Patients
3505 E. Frontage Rd., Suite 315
Tampa, FL 33607-1796
Toll-free: 800-749-2257
Telephone: 813-636-8100
Fax: 813-636-8122
E-mail: info@aakp.org
Website: http://www.aakp.org
American Kidney Fund, Inc.
6110 Executive Boulevard
Suite 1010
Rockville, MD 20852
Toll-free: 800-638-8299
Telephone: 301-881-3052
E-mail: helpline@kidneyfund.org
Website: http://www.kidneyfund.org
American Society for Deaf Children (ASDC)
800 Florida Avenue Northeast
#2047
Washington, DC 20002-3695
Toll-free: 800-942-2732
Telephone: 202-644-9204
Fax: 410-795-0965
E-mail: http://www.deafchildren.org/index.php/contact.html?view=foxcontact
Website: http://www.deafchildren.org/
Hypopara UK
6 The Meads
East Grinstead
West Sussex, RH19 4DF United Kingdom
Telephone: 01342 316315
E-mail: lizglenister@hypopara.org.uk
Website: http://hypopara.org.uk/home.php
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/
National Association of the Deaf
8630 Fenton Street Suite 820
Silver Spring, MD 20910
Telephone: 301-587-1788
TTY: 301-587-1789
Fax: 301-587-1791
E-mail: NADinfo@nad.org
Website: http://www.nad.org
National Kidney Federation (NKF)
The Point
Shireoaks
Coach Road
Worksop
Notts S81 8BW
United Kingdom
Telephone: 0845 601 02 09
Website: http://www.kidney.org.uk/
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: info@kidney.org
Website: https://www.kidney.org/

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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.

Where to Start

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

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 Barakat syndrome. 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

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References References

Barakat AJ, Raygada M, Rennert OM. Barakat syndrome revisited. Send to Am J Med Genet A. June, 2018; 176(6):1341-1348. https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.38693.
Barakat Syndrome. National Organization for Rare Disorders (NORD). 2018; https://rarediseases.org/rare-diseases/barakat-syndrome/.
HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR. Online Mendelian Inheritance in Man (OMIM). September 30, 2011; https://www.omim.org/entry/146255.

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