Tietz syndrome

[3] It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene.Individuals with Tietz syndrome often have skin and hair color that is lighter than those of other family members.The changes to these cells are generally detectable only by an eye examination; it is unclear whether the changes affect vision.[6] Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3.Other abnormalities (neurological, structural, Hirschsprung's disease) associated with the syndrome are treated symptomatically.
Tietze syndromeSpecialtyPediatricsautosomaldominantcongenital disorderdeafnessleucismmicrophthalmia-associated transcription factorsensorineural hearing lossretinal pigment epithelialchromosome3p14.1-p12.3autosomeList of cutaneous conditionsOnline Mendelian Inheritance in ManDiseasesDBOrphanetRare DiseasesPigmentation disordersDyschromiamelanocytesVitiligoQuadrichrome vitiligoVitiligo ponctuéAlezzandrini syndromeVogt–Koyanagi–Harada syndromePiebaldismWaardenburg syndromemelaninamelanismAlbinismOculocutaneous albinismOcular albinismin humansMelanosomeHermansky–Pudlak syndromeChédiak–Higashi syndromeGriscelli syndromeElejalde syndromeGriscelli syndrome type 2Griscelli syndrome type 3Cross syndromeABCD syndromeAlbinism–deafness syndromeIdiopathic guttate hypomelanosisPhylloid hypomelanosisProgressive macular hypomelanosisLeukodermaVasospastic maculeWoronoff's ringNevus anemicusNevus depigmentosusPostinflammatory hypopigmentationPityriasis albaVagabond's leukomelanodermaYemenite deaf-blind hypopigmentation syndromeWende–Bauckus syndromeHyper-MelanosisMelanismDermatopathia pigmentosa reticularisPigmentatio reticularis faciei et colliReticulate acropigmentation of KitamuraReticular pigmented anomaly of the flexuresNaegeli–Franceschetti–Jadassohn syndromeDyskeratosis congenitaX-linked reticulate pigmentary disorderGalli–Galli diseaseRevesz syndromeLentigoLentiginosisLentigo simplexLiver spotCentrofacial lentiginosisGeneralized lentiginosisInherited patterned lentiginosis in black personsInk spot lentigoLentigo malignaMucosal lentiginesPartial unilateral lentiginosisPUVA lentiginesMelasmaErythema dyschromicum perstansLichen planus pigmentosusCafé au lait spotPoikilodermaPoikiloderma of CivattePoikiloderma vasculare atrophicansRiehl melanosisIncontinentia pigmentiScratch dermatitisShiitake mushroom dermatitisAcanthosis nigricansFreckleFamilial progressive hyperpigmentationPallister–Killian syndromePeriorbital hyperpigmentationPhotoleukomelanodermatitis of KoboriPostinflammatory hyperpigmentationTransient neonatal pustular melanosisHemochromatosisIron metallic discolorationPigmented purpuric dermatosisSchamberg diseaseMajocchi's diseaseGougerot–Blum syndromeDoucas and Kapetanakis pigmented purpuraEczematid-like purpura of Doucas and KapetanakisLichen aureusAngioma serpiginosumHemosiderin hyperpigmentationArgyriaChrysiasisArsenic poisoningLead poisoningTitanium metallic discolorationCarotenosisTar melanosisDyschromatosis symmetrica hereditariaDyschromatosis universalis hereditariaSkin colorSkin whiteningTanningSunlessTattooremovalDepigmentationGenetic disorderstranscription factorFeingold syndromeSaethre–Chotzen syndromeIntracellular receptorThyroid hormone resistanceAndrogen insensitivity syndromeKennedy's diseasePHA1AD pseudohypoaldosteronismEstrogen insensitivity syndromeX-linked adrenal hypoplasia congenitaMODY 1Familial partial lipodystrophy 3SF1 XY gonadal dysgenesisBarakat syndromeTricho–rhino–phalangeal syndromeGreig cephalopolysyndactyly syndromePallister–Hall syndromeDenys–Drash syndromeDuane-radial ray syndromeMODY 7MRX 89Townes–Brocks syndromeAcrocallosal syndromeMyotonic dystrophy 2Autoimmune polyendocrine syndrome type 1Ohtahara syndromeLissencephaly X2Currarino syndromeHOXD13SPD1 synpolydactylyMODY 4Nail–patella syndromeTooth and nail syndromeAxenfeld syndrome 1POU4F3DFNA15POU3F4Posterior polymorphous corneal dystrophyFuchs' dystrophy 3Mowat–Wilson syndromePapillorenal syndromeWaardenburg syndrome 1&3MODY 9Gillespie syndromeColoboma of optic nerveCongenital hypothyroidism 2STHAG3Axenfeld syndrome 3Iridogoniodysgenesis, dominant typeLymphedema–distichiasis syndromeBamforth–Lazarus syndromeAnterior segment mesenchymal dysgenesisACD/MPVEnlarged vestibular aqueductPremature ovarian failure 3Van der Woude syndromePopliteal pterygium syndromeHyperimmunoglobulin E syndromeHolt–Oram syndromeLi–Fraumeni syndromeUlnar–mammary syndromeCampomelic dysplasiaMODY 3MODY 5SRY XY gonadal dysgenesisPremature ovarian failure 7Waardenburg syndrome 4cCleidocranial dysostosisKabuki syndromePitt–Hopkins syndromeRapp–Hodgkin syndromeHay–Wells syndromeEctrodactyly–ectodermal dysplasia–cleft syndrome 3Limb–mammary syndromeTranscription coregulatorsCREBBPRubinstein–Taybi syndromeAtrichia with papular lesions