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There is currently no treatment or cure for Tietz syndrome. The symptom most likely to be of practical importance is sensorineural deafness, and this is treated as any other irreversible deafness would be. In marked cases, there may be cosmetic issues. Other abnormalities (neurological, structural,
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cells lack their normal pigment. The changes to these cells are generally detectable only by an eye examination; it is unclear whether the changes affect vision.
164:(chromosome 3 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
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Tietz syndrome is characterized by profound hearing loss from birth, white hair and pale skin (hair color may darken over time to blond or red).
132:) and is present from birth. Individuals with Tietz syndrome often have skin and hair color that is lighter than those of other family members.
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Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM (Jan 1998). "Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)".
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160:. It is inherited in an autosomal dominant manner. This indicates that the defective gene responsible for a disorder is located on an
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117:) gene. Tietz syndrome was first described in 1963 by Walter Tietz (1927–2003) a German Physician working in California.
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Tietz syndrome also affects the eyes. The iris in affected individuals is blue, and specialized cells in the eye called
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348:"A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance"
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Hirschsprung's disease) associated with the syndrome are treated symptomatically.
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225:"Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF"
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Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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Tietz syndrome has an autosomal dominant pattern of inheritance.
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The hearing loss is caused by abnormalities of the inner ear (
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Smith SD, Kelley PM, Kenyon JB, Hoover D (Jun 2000).
532:
Tietz syndrome; Albinism and complete nerve deafness
427:
2332:Ectrodactyly–ectodermal dysplasia–cleft syndrome 3
1020:Inherited patterned lentiginosis in black persons
2415:
1229:Eczematid-like purpura of Doucas and Kapetanakis
111:microphthalmia-associated transcription factor
2224:Yemenite deaf-blind hypopigmentation syndrome
1412:
881:Yemenite deaf-blind hypopigmentation syndrome
560:
298:
296:
147:Tietz syndrome is caused by mutations in the
949:Reticular pigmented anomaly of the flexures
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567:
553:
293:
69:
45:
2449:Syndromes with sensorineural hearing loss
363:
251:
1828:Posterior polymorphous corneal dystrophy
1658:Autoimmune polyendocrine syndrome type 1
1225:Doucas and Kapetanakis pigmented purpura
954:Naegeli–Franceschetti–Jadassohn syndrome
2019:Anterior segment mesenchymal dysgenesis
964:X-linked reticulate pigmentary disorder
944:Reticulate acropigmentation of Kitamura
939:Pigmentatio reticularis faciei et colli
345:
268:
2416:
1336:Dyschromatosis universalis hereditaria
1141:Familial progressive hyperpigmentation
1551:X-linked adrenal hypoplasia congenita
1400:
1331:Dyschromatosis symmetrica hereditaria
1166:Transient neonatal pustular melanosis
548:
218:
216:
214:
212:
1603:Greig cephalopolysyndactyly syndrome
1156:Photoleukomelanodermatitis of Kobori
934:Dermatopathia pigmentosa reticularis
109:. It is caused by a mutation in the
1977:Iridogoniodysgenesis, dominant type
412:Online Mendelian Inheritance in Man
201:Online Mendelian Inheritance in Man
194:
13:
2434:Disturbances of human pigmentation
2261:
1161:Postinflammatory hyperpigmentation
1081:Poikiloderma vasculare atrophicans
209:
40:Hypopigmentation-deafness syndrome
14:
2460:
2439:Transcription factor deficiencies
866:Postinflammatory hypopigmentation
810:Progressive macular hypomelanosis
423:
279:. St. Louis: Mosby. p. 925.
1991:Lymphedema–distichiasis syndrome
1587:Tricho–rhino–phalangeal syndrome
1561:Familial partial lipodystrophy 3
800:Idiopathic guttate hypomelanosis
317:10.1097/00019605-199801000-00003
85:Tietz albinism-deafness syndrome
2255:(0) Other transcription factors
1546:Estrogen insensitivity syndrome
1514:Androgen insensitivity syndrome
1284:Titanium metallic discoloration
1040:Partial unilateral lentiginosis
120:
2136:Hyperimmunoglobulin E syndrome
1541:PHA1AD pseudohypoaldosteronism
1057:Erythema dyschromicum perstans
405:
380:
89:albinism and deafness of Tietz
1:
2398:Atrichia with papular lesions
1246:Hemosiderin hyperpigmentation
1205:Pigmented purpuric dermatosis
1151:Periorbital hyperpigmentation
647:Vogt–Koyanagi–Harada syndrome
188:
2424:Autosomal dominant disorders
2105:Popliteal pterygium syndrome
2047:Enlarged vestibular aqueduct
1886:Waardenburg syndrome 1&3
1671:(3) Helix-turn-helix domains
1430:relating to deficiencies of
1113:Shiitake mushroom dermatitis
183:List of cutaneous conditions
167:
7:
2205:Premature ovarian failure 7
2061:Premature ovarian failure 3
1933:Congenital hypothyroidism 2
1200:Iron metallic discoloration
876:Vagabond's leukomelanoderma
176:
10:
2465:
2352:Transcription coregulators
2122:with minor groove contacts
1509:Thyroid hormone resistance
1146:Pallister–Killian syndrome
795:Albinism–deafness syndrome
137:retinal pigment epithelial
130:sensorineural hearing loss
18:
2384:
2374:Rubinstein–Taybi syndrome
2359:
2350:
2281:
2254:
2234:
2200:SRY XY gonadal dysgenesis
2170:
2144:
2128:
2119:
2085:
2005:Bamforth–Lazarus syndrome
1957:
1857:
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1670:
1650:
1617:Duane-radial ray syndrome
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1574:
1566:SF1 XY gonadal dysgenesis
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1467:
1446:
1439:
1344:
1321:
1292:
1254:
1187:
1178:
1121:
1095:
1062:Lichen planus pigmentosus
1010:Centrofacial lentiginosis
982:
926:
907:
898:
853:
822:
777:
767:Griscelli syndrome type 3
762:Griscelli syndrome type 2
742:Hermansky–Pudlak syndrome
730:
702:
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655:
634:
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600:
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431:
277:Dermatology: 2-Volume Set
58:
53:
44:
36:
31:
2242:Cleidocranial dysostosis
1459:Saethre–Chotzen syndrome
1015:Generalized lentiginosis
747:Chédiak–Higashi syndrome
142:
19:Not to be confused with
2219:Waardenburg syndrome 4c
1919:Coloboma of optic nerve
1767:Tooth and nail syndrome
1607:Pallister–Hall syndrome
1076:Poikiloderma of Civatte
712:Oculocutaneous albinism
392:Genetics Home Reference
153:gene, located on human
2429:Rare genetic syndromes
2162:Ulnar–mammary syndrome
2120:(4) β-Scaffold factors
2100:Van der Woude syndrome
1632:Townes–Brocks syndrome
1505:Intracellular receptor
1220:Gougerot–Blum syndrome
1103:Incontinentia pigmenti
959:Dyskeratosis congenita
886:Wende–Bauckus syndrome
805:Phylloid hypomelanosis
576:Pigmentation disorders
2336:Limb–mammary syndrome
2324:Rapp–Hodgkin syndrome
2296:Pitt–Hopkins syndrome
1872:Papillorenal syndrome
1847:Mowat–Wilson syndrome
1753:Nail–patella syndrome
1637:Acrocallosal syndrome
642:Alezzandrini syndrome
621:Quadrichrome vitiligo
2178:Campomelic dysplasia
2157:Li–Fraumeni syndrome
1642:Myotonic dystrophy 2
1612:Denys–Drash syndrome
1432:transcription factor
1239:Angioma serpiginosum
1131:Acanthosis nigricans
670:Waardenburg syndrome
346:Tietz W (Sep 1963).
244:10.1136/jmg.37.6.446
1972:Axenfeld syndrome 3
1786:Axenfeld syndrome 1
1725:SPD1 synpolydactyly
1490:DNA-binding domains
969:Galli–Galli disease
861:Nevus depigmentosus
99:congenital disorder
16:Congenital disorder
2328:Hay–Wells syndrome
2152:Holt–Oram syndrome
1914:Gillespie syndrome
1833:Fuchs' dystrophy 3
1711:Currarino syndrome
1215:Majocchi's disease
1108:Scratch dermatitis
1035:Mucosal lentigines
835:Vasospastic macule
752:Griscelli syndrome
504:External resources
2411:
2410:
2407:
2406:
2277:
2276:
2250:
2249:
2115:
2114:
1692:Ohtahara syndrome
1666:
1665:
1536:Kennedy's disease
1483:
1482:
1454:Feingold syndrome
1440:(1) Basic domains
1428:Genetic disorders
1394:
1393:
1317:
1316:
1313:
1312:
1274:Arsenic poisoning
1210:Schamberg disease
1174:
1173:
1067:Café au lait spot
894:
893:
818:
817:
757:Elejalde syndrome
683:
682:
527:
526:
352:Am. J. Hum. Genet
286:978-1-4160-2999-1
101:characterized by
78:
77:
26:Medical condition
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2258:
2126:
2125:
1697:Lissencephaly X2
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1674:
1582:Barakat syndrome
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1493:
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1414:
1407:
1398:
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1025:Ink spot lentigo
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626:Vitiligo ponctué
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388:"Tietz syndrome"
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305:Clin. Dysmorphol
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228:(Free full text)
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2269:Kabuki syndrome
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2111:
2081:
1953:
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1488:(2) Zinc finger
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1434:or coregulators
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1195:Hemochromatosis
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1117:
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1087:Riehl melanosis
1045:PUVA lentigines
1030:Lentigo maligna
1000:Lentigo simplex
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978:
974:Revesz syndrome
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912:
890:
871:Pityriasis alba
849:
840:Woronoff's ring
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717:Ocular albinism
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21:Tietze syndrome
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2444:Rare syndromes
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1475:Tietz syndrome
1471:
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1386:Depigmentation
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1357:Skin whitening
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1279:Lead poisoning
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845:Nevus anemicus
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785:Cross syndrome
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675:Tietz syndrome
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432:Classification
425:
424:External links
422:
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358:(3): 259–264.
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238:(6): 446–448.
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83:, also called
81:Tietz syndrome
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32:Tietz syndrome
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1305:Tar melanosis
1303:
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1272:
1270:
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1234:Lichen aureus
1232:
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985:circumscribed
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838:
836:
833:
832:
830:
828:hypomelanosis
825:
821:
811:
808:
806:
803:
801:
798:
796:
793:
791:
790:ABCD syndrome
788:
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541:
540:Rare Diseases
538:'s Office of
537:
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232:J. Med. Genet
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52:
48:
43:
39:
35:
30:
22:
2391:
2385:Corepressor:
2366:
2360:Coactivator:
2316:
2302:
2288:
2211:
2192:
2092:
2067:
2053:
2039:
2025:
2011:
1997:
1983:
1964:
1939:
1925:
1906:
1892:
1878:
1864:
1839:
1820:
1806:
1792:
1778:
1759:
1745:
1731:
1717:
1703:
1684:
1474:
1072:Poikiloderma
996:Lentiginosis
674:
511:
487:
476:
465:
444:
407:
396:. Retrieved
394:. 2016-02-22
391:
382:
355:
351:
341:
311:(1): 17–20.
308:
304:
276:
270:
235:
231:
196:
171:
158:3p14.1-p12.3
148:
146:
134:
127:
124:
121:Presentation
114:
88:
84:
80:
79:
1300:Carotenosis
927:Reticulated
658:development
604:melanocytes
37:Other names
2418:Categories
1352:Skin color
1323:Dyschromia
1269:Chrysiasis
1005:Liver spot
824:Leukoderma
732:Melanosome
665:Piebaldism
656:Melanocyte
580:Dyschromia
489:DiseasesDB
398:2016-03-01
189:References
155:chromosome
65:Pediatrics
2282:Ungrouped
1124:ungrouped
914:Melanosis
854:Ungrouped
722:in humans
695:amelanism
635:Syndromic
168:Treatment
93:autosomal
60:Specialty
1345:See also
1181:pigments
983:Diffuse/
919:Melanism
735:transfer
704:Albinism
688:Loss of
613:Vitiligo
513:Orphanet
462:E70.358)
414:(OMIM):
374:13985019
333:20222113
262:10851256
203:(OMIM):
177:See also
162:autosome
103:deafness
96:dominant
91:, is an
2033:ACD/MPV
1379:removal
1367:Sunless
1362:Tanning
1264:Argyria
1136:Freckle
1052:Melasma
992:Lentigo
909:Melanin
690:melanin
601:Loss of
593:leucism
483:C536919
365:1932384
325:9546825
253:1734605
107:leucism
2368:CREBBP
2188:MODY 5
2183:MODY 3
1947:STHAG3
1900:MODY 9
1808:POU3F4
1800:DFNA15
1794:POU4F3
1739:MODY 4
1719:HOXD13
1627:MRX 89
1622:MODY 7
1556:MODY 1
1374:Tattoo
1257:metals
1122:Other/
1096:Linear
900:Hyper-
472:103500
416:156845
372:
362:
331:
323:
283:
260:
250:
205:103500
67:
2310:TNDM1
2304:ZFP57
2213:SOX10
2069:FOXP3
2055:FOXL2
2041:FOXI1
2027:FOXF1
2013:FOXE3
1999:FOXE1
1985:FOXC2
1966:FOXC1
1814:DFNX2
1780:PITX2
1747:LMX1B
1293:Other
1255:Other
1179:Other
778:Other
588:Hypo-
518:42665
494:34108
455:E70.3
329:S2CID
143:Cause
2340:OFC8
2318:TP63
2290:TCF4
2235:4.11
2094:IRF6
2075:IPEX
1941:PAX9
1927:PAX8
1908:PAX6
1894:PAX4
1880:PAX3
1866:PAX2
1841:ZEB2
1822:ZEB1
1772:OFC5
1761:MSX1
1733:PDX1
1705:MNX1
1529:CAIS
1524:MAIS
1519:PAIS
1188:Iron
478:MeSH
467:OMIM
460:ILDS
370:PMID
321:PMID
281:ISBN
258:PMID
150:MITF
115:MITF
105:and
2262:0.6
2194:SF1
2171:4.7
2145:4.3
2129:4.2
2086:3.5
1958:3.3
1858:3.2
1686:ARX
1678:3.1
1651:2.5
1596:2.3
1575:2.2
1507:):
1497:2.1
1468:1.3
1447:1.2
826:w/o
536:NIH
534:at
446:ICD
360:PMC
313:doi
248:PMC
240:doi
87:or
2420::
2393:HR
998::
516::
492::
481::
470::
453::
450:10
390:.
368:.
356:15
354:.
350:.
327:.
319:.
307:.
295:^
256:.
246:.
236:37
234:.
230:.
211:^
2400:)
2396:(
2338:/
2334:/
2330:/
2326:/
1605:/
1503:(
1420:e
1413:t
1406:v
1227:/
1083:)
1074:(
994:/
916:/
911:/
692:/
590:/
578:/
568:e
561:t
554:v
458:(
448:-
438:D
401:.
376:.
335:.
315::
309:7
289:.
264:.
242::
113:(
23:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
