Disease Profile

Barakat syndrome

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

All ages

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ICD-10

Q87.8

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)

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;

Summary

Barakat syndrome, also known as HDR 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.[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]

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
Hypoparathyroidism
Decreased parathyroid hormone secretion
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
Heart defect

[ more ]

0001627
Abnormality of T cell physiology
0011840
Aplasia of the uterus
Absent uterus
uterus absent

[ more ]

0000151
Cleft palate
Cleft roof of mouth
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
Thickened glomerular basement membrane
0004722

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.

    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

      Organizations Providing General Support

        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.

            References

            1. 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.
            2. Barakat Syndrome. National Organization for Rare Disorders (NORD). 2018; https://rarediseases.org/rare-diseases/barakat-syndrome/.
            3. HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR. Online Mendelian Inheritance in Man (OMIM). September 30, 2011; https://www.omim.org/entry/146255.