Tietz syndrome
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Tietz syndrome is a disorder characterised 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 colour 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 colour remain lighter than those of other members of their family.
Descrição
Tietz syndrome is a disorder characterised 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 colour 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 colour 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 colour. The changes to the retinal pigment epithelium are generally detectable only by an eye examination; it is unclear whether the changes affect vision.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Albinism and complete nerve deafness
Albinism-deafness of Tietz
Hypopigmentation-deafness syndrome
Hypopigmentation/deafness of Tietz
Tietz albinism-deafness syndrome
Tietz's syndrome
Related patient information and medicines
Patient information leaflet
Albinismo
(Differential diagnosis) Based on hair and skin having less pigmentation: Hermansky-Pudlak syndrome. Chediak-Higashi syndrome. Angelman syndrome and Prader-Willi syndrome. Vici syndrome. Waardenburg syndrome type II. Tietz albinism-deafness syndrome. Griscelli syndrome. What problems do people with albinism have. People with albinism typically.
Patient information leaflet
Cistite intersticial
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Síndrome de Tourette
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Síndrome da fadiga crônica
Chronic fatigue syndrome (CFS), sometimes known as myalgic encephalomyelitis (ME) or myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) , is a condition where there is long-term disabling tiredness (fatigue). Most people with also have one or more ... Chronic fatigue syndrome (CFS) is defined as persistent or recurrent debilitating.
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Costela cervical
About 1 in 100 pessoas are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. Treatment can include painkillers, physiotherapy and sometimes surgery to relieve the compression caused.
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Cri du chat syndrome
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. A syndrome is called cri du chat (French for cry of the cat) porque affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Leitura adicional e referências
- Tietz syndrome; MedlinePlus, National Library of Medicine.
- Centeno PP, Pavet V, Marais R. The journey from melanocytes to melanoma. Nat Rev Cancer. 2023 Jun;23(6):372-390. doi: 10.1038/s41568-023-00565-7. Epub 2023 Apr 24.
- Grill C, Bergsteinsdottir K, Ogmundsdottir MH, Pogenberg V, Schepsky A, Wilmanns M, Pingault V, Steingrimsson E. MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. Hum Mol Genet. 2013 Nov 1;22(21):4357-67. doi: 10.1093/hmg/ddt285. Epub 2013 Jun 20.
- Izumi K, Kohta T, Kimura Y, Ishida S, Takahashi T, Ishiko A, Kosaki K. Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. Clin Genet. 2008 Jul;74(1):93-5. doi: 10.1111/j.1399-0004.2008.01010.x. Epub 2008 May 28. No abstract available.
- Leger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V. Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. Eur J Hum Genet. 2012 May;20(5):584-7. doi: 10.1038/ejhg.2011.234. Epub 2012 Jan 18.
- Yamamoto K, Okamura K, Wakamatsu K, Ito S, Akabane K, Arai Y, Kawaguchi J, Hozumi Y, Suzuki T. Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF. Pigment Cell Melanoma Res. 2024 Jul;37(4):430-437. doi: 10.1111/pcmr.13166. Epub 2024 Mar 4.
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