Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":7,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":13,"sourceGroups":{"omim":0,"orphanet":6,"published":7}},"features":[{"hpoId":"HP:0000593","label":"Abnormal anterior chamber morphology","primary":false},{"hpoId":"HP:0001000","label":"Abnormal skin pigmentation","primary":false},{"hpoId":"HP:0000635","label":"Blue irides","primary":false},{"hpoId":"HP:0008527","label":"Congenital sensorineural hearing impairment","primary":false},{"hpoId":"HP:0007894","label":"Fundus hypopigmentation","primary":false},{"hpoId":"HP:0007513","label":"Generalized hypopigmentation","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0001100","label":"Heterochromia iridis","primary":false},{"hpoId":"HP:0005599","label":"Hypopigmentation of hair","primary":false},{"hpoId":"HP:0001010","label":"Lighter skin pigmentation","primary":false},{"hpoId":"HP:0002226","label":"White eyebrow","primary":false},{"hpoId":"HP:0002227","label":"White eyelashes","primary":false}],"ledeHtml":"Tietz syndrome is a disorder characterized by profound hearing loss from birth, 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. Although people with Tietz syndrome are born with white hair and very pale skin, their hair color often darkens over time to blond or red. The skin of affected individuals, which sunburns very easily, may tan slightly or develop reddish freckles with limited sun exposure; however, their skin and hair color remain lighter than those of other members of their family.","mondoId":"MONDO:0007077","records":[{"frequencyKind":"count","key":"4029af3ad2d9e3c70dd760c5c88cbafd0559466ce103dda62adf4329cfdd5d99","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:103500","disease_name":"Tietz albinism-deafness syndrome","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0007513","is_excluded":false,"label":"Generalized hypopigmentation","onset_id":null,"reference":"PMID:10851256","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"737b8fee00d7383f8fab588fd9dbda01c4ab1e6b768f6bbec36f994f5d3fb465","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:103500","disease_name":"Tietz albinism-deafness 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skin","onset_id":null,"reference":"ORPHA:42665","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f7250e47dec42d0531e73ac299d940b470ce7b0b358cbcd56ae2e30ce31aa5b2","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:103500","disease_name":"Tietz albinism-deafness syndrome","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0002226","is_excluded":false,"label":"White eyebrow","onset_id":null,"reference":"PMID:10851256","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f73dc40391c9b8e9d88357f800028b1952d7bddc72597361a35a7154a0bcaddb","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:103500","disease_name":"Tietz albinism-deafness syndrome","evidence":"PCS","frequency_raw":"0/11","hpo_id":"HP:0001100","is_excluded":true,"label":"Heterochromia iridis","onset_id":null,"reference":"PMID:10851256","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fd4dcbfc288bcde818f79b63eaf8fe0b0bc131b79149796274eb5ac36d856677","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:42665","disease_name":"Tietz syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:42665","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the MITF gene cause Tietz syndrome. The MITF gene provides instructions for making a protein that plays a role in the development, survival, and function of certain types of cells. MITF proteins attach to each other or to other proteins, creating a two-protein unit (dimer). The dimer attaches to specific areas of DNA and helps control the activity of particular genes. Proteins that are involved in controlling gene activity are called transcription factors.
The MITF protein plays a major role in controlling the development and function of pigment-producing cells called melanocytes. Within these cells, the MITF protein controls the production of the pigment melanin, which contributes to hair, eye, and skin color. Melanocytes are also found in the inner ear and play an important role in hearing. Additionally, the MITF protein regulates the development of the retinal pigment epithelium in the eyes.
The pathogenic variants in the MITF gene that cause Tietz syndrome lead to the production of an altered protein. Dimers that are made with the abnormal MITF protein cannot bind to DNA. As a result, the activity of the genes that are involved in the development of melanocytes and the production of melanin is impaired. A lack of melanocytes in the inner ear leads to hearing loss. Decreased melanin production causes the light skin and hair color and the retinal pigment epithelium changes that are characteristic of Tietz syndrome.
Researchers suggest that Tietz syndrome may represent a severe form of a disorder called Waardenburg syndrome, which can also be caused by pathogenic variants in the MITF gene.
","key":"forms","title":"What causes Tietz syndrome?"},{"bodyHtml":"Tietz syndrome also affects the eyes. The colored part of the eye (the iris) in affected individuals is blue, and specialized cells in the eye called retinal pigment epithelial cells lack their normal pigment. The retinal pigment epithelium nourishes the retina, the part of the eye that detects light and color. The changes to the retinal pigment epithelium are generally detectable only by an eye examination; it is unclear whether the changes affect vision.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"tietz-syndrome","sourceDocuments":[{"name":"Tietz syndrome","reviewed":"2015-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:28.853249+00:00","label":"Causes","pageSha256":"0eaf4ac0e20e12afe4c517b0e68335daaa9921ba5cb0d1fe799d1dd60bafc000","sourceUrl":"https://medlineplus.gov/genetics/condition/tietz-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/tietz-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Tietz syndrome"},"schemaVersion":1}