About: Tietz syndrome

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Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized by deafness and leucism. It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene. Tietz syndrome was first described in 1963 by Walter Tietz (1927–2003) a German Physician working in California.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:WikicatCongenitalDisorders yago:WikicatTranscriptionFactorDeficiencies yago:Abnormality114501726 yago:Abstraction100002137 yago:Act100030358 yago:Activity100407535 yago:Anomaly114505821 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:BirthDefect114465048 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:Event100029378 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:Lack114449405 yago:Need114449126 yago:PathologicalState114051917 yago:Perturbation107428450 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders yago:YagoPermanentlyLocatedEntity disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatDisturbancesOfHumanPigmentation yago:WikicatSyndromes
rdfs:label	Tietz-Syndrom (de) Síndrome de Tietz (es) Zespół Tietza (pl) Tietz syndrome (en)
rdfs:comment	Das Tietz-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Albinismus und Taubheit. Das Syndrom ist nicht zu verwechseln mit dem Tietze-Syndrom, einer Chondroosteopathia der Rippe. Die Bezeichnung bezieht sich auf den Autoren der Erstbeschreibung aus dem Jahre 1960 durch den deutsch-US-amerikanischen Kinderarzt Walter Tietz. (de) El síndrome de Tietz es una enfermedad hereditaria muy rara que cursa con falta de pigmentación en la piel y déficit auditivo. No debe confundirse con el síndrome de Tietze o costocondritis con el que no tiene relación alguna. (es) Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized by deafness and leucism. It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene. Tietz syndrome was first described in 1963 by Walter Tietz (1927–2003) a German Physician working in California. (en) Zespół Tietza (ang. Tietz syndrome) – zespół wad wrodzonych, na którego fenotyp składają się głęboka, wrodzona utrata słuchu o charakterze czuciowo-nerwowym oraz albinizm (jasne rzęsy i brwi, bardzo jasne włosy, hipopigmentacja dna oka, jasna skóra, błękitne oczy). Nie stwierdza się różnobarwności tęczówek; odstęp między wewnętrznymi kącikami oczu jest w normie. Zespół jest spowodowany mutacjami w genie czynnika transkrypcyjnego związanego z mikroftalmią w locus 3p14.1-p12.3, podobnie jak zespół Waardenburga typu 2A; są to więc schorzenia alleliczne. Dziedziczony jest autosomalnie dominująco. Zespół opisał Tietz w 1967 roku. (pl)
differentFrom	Tietze syndrome
name	Tietz syndrome (en)
foaf:depiction
dcterms:subject	Rare genetic syndromes Rare syndromes Disturbances of human pigmentation Autosomal dominant disorders Transcription factor deficiencies Syndromes with sensorineural hearing loss
Wikipage page ID	317453 (xsd:integer)
Wikipage revision ID	1117705156 (xsd:integer)
Link from a Wikipage to another Wikipage	Deafness Leucism Rare genetic syndromes Chromosome 3 (human) Microphthalmia-associated transcription factor Chromosome Retinal pigment epithelium Rare syndromes Disturbances of human pigmentation Autosomal dominant disorders Transcription factor deficiencies Syndromes with sensorineural hearing loss Dominance (genetics) Autosome Congenital abnormality Sensorineural hearing loss List of cutaneous conditions ILDS
sameAs	Tietz syndrome Tietz syndrome Tietz syndrome Tietz syndrome Tietz syndrome Tietz syndrome Tietz syndrome Tietz syndrome
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Cn dbt:Distinguish dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Short_description dbt:Pigmentation_disorders dbt:RareDiseases dbt:Transcription_factor/coregulator_deficiencies
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
DiseasesDB	34108 (xsd:integer)
ICD	(en) E70.3 (en)
OMIM	103500 (xsd:integer)

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