{"Name":"Tietz syndrome","DiseaseID__c":"GARD:0007772","id":7772,"encodedName":"tietz-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Tietz syndrome","Xref_IDs__c":"403805009; C0391816; C536919; DOID:0090002; MEDGEN:98213; MONDO:0007077; OMIM:103500; ORPHA:42665","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007077","Disease_Description__c":"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.","GARD_Name__c":"Tietz syndrome","GARD_Synonym__c":"albinism-deafness of tietz; albinism-deafness syndrome of tietz; hypopigmentation-deafness syndrome; hypopigmentation-hearing loss syndrome; hypopigmentation/deafness of tietz; tads; tietz albinism-deafness syndrome","Curated_Disease_Description_Source__c":"GARD:0007772","Curated_Disease_Description__c":"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. 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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:42665","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007077","ORPHANET_ID__c":"ORPHA:42665","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de tietz","Spanish_Description_Source__c":"ORPHA:42665","Spanish_Description__c":"El síndrome de Tietz es un síndrome genético de hipopigmentación y sordera caracterizado por una pérdida auditiva neurosensorial profunda bilateral congénita y una hipopigmentación tipo albinismo generalizada de la piel, ojos y cabello.","Spanish_Disease_Name__c":"síndrome de tietz","Spanish_GARD_Synonym__c":"síndrome de hipopigmentación-hipoacusia; síndrome de hipopigmentación-sordera","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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. 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.","Curated_Disease_Description_Source__c":"GARD:0007772","GARD_Synonym__c":"albinism-deafness of tietz; albinism-deafness syndrome of tietz; hypopigmentation-deafness syndrome; hypopigmentation-hearing loss syndrome; hypopigmentation/deafness of tietz; tads; tietz albinism-deafness syndrome","Name":"Tietz syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hearing Loss Association of America","Website__c":"https://www.hearingloss.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:42665"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0391816"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007772","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090002","Source__c":"MONDO:0007077","Xref__c":"DOID:0090002"},{"URL__c":"https://www.omim.org/entry/103500","Source__c":"C0391816; MONDO:0007077; ORPHA:42665","Xref__c":"OMIM:103500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536919","Source__c":"MONDO:0007077","Xref__c":"C536919"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403805009","Source__c":"C0391816; MONDO:0007077","Xref__c":"403805009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98213","Source__c":"C0391816","Xref__c":"MEDGEN:98213"},{"URL__c":"https://www.orpha.net/en/disease/detail/42665","Source__c":"C0391816; MONDO:0007077; ORPHA:42665","Xref__c":"ORPHA:42665"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0391816","Source__c":"C0391816","Xref__c":"C0391816"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007077","Source__c":"GARD:0007772","Xref__c":"MONDO:0007077"},{"URL__c":"https://medlineplus.gov/genetics/condition/tietz-syndrome","Source__c":"GARD:0007772","Xref__c":"https://medlineplus.gov/genetics/condition/tietz-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MITF","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mitf","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:42665","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000593","HPO_Synonym__c":"Abnormality of the anterior chamber; Anterior chamber anomalies; Ocular anterior chamber abnormality","HPO_Name__c":"Abnormal anterior chamber morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42665","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of skin color related to a decrease in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001010","HPO_Synonym__c":"Hypopigmentation; Hypopigmented skin; Patchy lightened skin","HPO_Name__c":"Hypopigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42665","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005599","HPO_Synonym__c":"Hair hypopigmentation; Loss of hair color","HPO_Name__c":"Hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42665","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42665","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42665","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"White color (lack of pigmentation) of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002226","HPO_Synonym__c":"Depigmented eyebrow; Hypopigmented eyebrow; Pale eyebrow; White eyebrow","HPO_Name__c":"White eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Otolaryngology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["albinism-deafness of tietz"," albinism-deafness syndrome of tietz"," hypopigmentation-deafness syndrome"," hypopigmentation-hearing loss syndrome"," hypopigmentation/deafness of tietz"," tads"," tietz albinism-deafness syndrome"]}