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Disease Profile

Tietz 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

-

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)

Albinism-deafness of Tietz; Hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;

Summary

Tietz syndrome is a rare condition characterized by hearing loss, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. People with Tietz syndrome are born with white hair and very pale skin but their hair color often darkens over time; The colored part of the eye (the iris) is blue.[1][2] It is caused by changes (mutations) in the MITF gene which affects the development of melanocytes. The inheritance is autosomal dominant.[3] The goal of treatment is to improve hearing; cochlear implantation may be considered.[4]

Symptoms

The signs and symptoms of Tietz syndrome are usually present at birth and may include:[3][5][1]

  • Severe, bilateral (both ears) sensorineural hearing loss
  • Fair skin
  • Light-colored hair
  • Blue eyes

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
80%-99% of people have these symptoms
Abnormal anterior chamber morphology
0000593
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hypopigmentation of hair
Loss of hair color
0005599
Hypopigmentation of the skin
Patchy lightened skin
0001010
White eyebrow
Pale eyebrow
0002226
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Bilateral sensorineural hearing impairment
0008619
Blue irides
Blue eyes
0000635
Congenital sensorineural hearing impairment
0008527
Generalized hypopigmentation
Fair skin
Pale pigmentation

[ more ]

0007513
Hypopigmentation of the fundus
0007894
White eyelashes
Blonde eyelashes
Pale eyelashes

[ more ]

0002227

Diagnosis

A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis.[3][1]

Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the MITF gene.[3] It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics.

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

        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 Tietz syndrome. Click on the link to view a sample search on this topic.

          References

          1. Tietz Syndrome. OMIM. 2015; https://omim.org/entry/103500.
          2. Tietz syndrome. MedlinePlus Genetics. December 2015; https://ghr.nlm.nih.gov/condition/tietz-syndrome.
          3. Smith SD, Kelley PM, Kenyon JB, Hoover D. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet. 2000; 37:446-448. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734605/pdf/v037p00446.pdf.
          4. Moody Antonio SA. Genetic Sensorineural Hearing Loss. Medscape. August 25, 2014; https://emedicine.medscape.com/article/855875-overview.
          5. Tietz syndrome. Orphanet. 2003; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10575&Disease_Disease_Search_diseaseGroup=TIETZ-&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Tietz-syndrome&title=Tietz-syndrome&search=Disease_Search_Simple. Accessed 1/28/2010.
          6. Tietz syndrome. Genetics Home Reference. May, 2016; https://ghr.nlm.nih.gov/condition/tietz-syndrome.

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