Tietz syndrome
Classification according to ICD-10 | |
---|---|
E70.35 | Albinism deafness |
H91 | Other hearing loss |
ICD-10 online (WHO version 2019) |
The Tietz's syndrome is a very rare congenital disease with a combination of albinism and deafness .
The syndrome should not be confused with Tietze syndrome , a chondroosteopathia of the rib .
The term refers to the authors of the first description in 1960 by the German - American pediatrician Walter Tietz.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
root cause
The disease are "missense" - mutations in MITF - gene on Chromosome 3 locus p13 based on which the associated microphthalmia transcription factor encoded.
Other mutations in this gene are found in Waardenburg syndrome type 2A.
Clinical manifestations
Clinical criteria are:
- Genuine albinism, snow white at birth, fair skin as adults, white to blonde hair and eyelashes
- blue iris
- Hypoplasia of the white eyebrows
- Inner ear deafness on both sides, deafness
literature
- T. Shigemura, M. Shiohara, M. Tanaka, K. Takeuchi, K. Koike: Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. In: Journal of pediatric hematology / oncology. Vol. 32, No. 6, August 2010, pp. 442-447, doi: 10.1097 / MPH.0b013e3181d9da5d , PMID 20485200 .
- K. Izumi, T. Kohta, Y. Kimura, S. Ishida, T. Takahashi, A. Ishiko, K. Kosaki: Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. In: Clinical genetics. Vol. 74, No. 1, July 2008, pp. 93-95, doi: 10.1111 / j.1399-0004.2008.01010.x , PMID 18510545 .
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ Encyclopedia Dermatology
- ↑ a b c d Tietz syndrome. In: Orphanet (Rare Disease Database).
- ↑ W. Tietz: Dominant albinism associated with deaf-mutism. Presented at the American Society of Human Genetics , April 1960, pp. 28-30.
- ^ W. Tietz: A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. In: American Journal of Human Genetics . Volume 15, September 1963, pp. 259-264, PMID 13985019 , PMC 1932384 (free full text).
- ↑ Tietz albinism-deafness syndrome. In: Online Mendelian Inheritance in Man . (English)