Waardenburg syndrome type 2

A form of Waardenburg Syndrome that is caused by mutations in the SOX10 gene. In addition to pigmentation and hearing abnormalities, affected individuals with type IIE may also experience mental impairment, myelination defects, and ATAXIA. OMIM: 611584

Also Known As:

Networked: 13 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hypopigmentation (Hypomelanosis)
2.	Deafness (Deaf Mutism)
3.	Hearing Loss (Hearing Impairment)
4.	Piebaldism (Partial Albinism)
5.	Unilateral Hearing Loss

Experts

1.	Shibahara, Shigeki: 3 articles (03/2007 - 08/2002)
2.	Takeda, Kazuhisa: 3 articles (03/2007 - 08/2002)
3.	Saito, Hideo: 2 articles (06/2003 - 08/2002)
4.	Takahashi, Kazuhiro: 2 articles (06/2003 - 08/2002)
5.	Yasumoto, Ken-Ichi: 2 articles (06/2003 - 08/2002)
6.	Akın, R: 1 article (09/2022)
7.	Bademci, G: 1 article (09/2022)
8.	Bozan, N: 1 article (09/2022)
9.	Doosti, M: 1 article (09/2022)
10.	Douzgou, S: 1 article (09/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Waardenburg syndrome type 2:

1.	Microphthalmia-Associated Transcription FactorIBA 03/01/2007 - "Moreover, heterozygous mutations in the gene coding for microphthalmia-associated transcription factor, a key regulator for melanocyte development, are associated with Waardenburg syndrome type 2, an auditory-pigmentary disorder. " 08/01/2010 - "Mutations in microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome type 2 (WS2), a dominantly inherited disorder involving hearing loss and pigment disturbances caused by a lack of melanocytes. " 02/28/2005 - "The deafness-pigmentary disorder Waardenburg Syndrome Type 2 is caused by mutations in the human Microphthalmia-associated transcription factor (MITF) gene. " 08/09/2002 - "Waardenburg syndrome type 2 (WS2) is associated with heterozygous mutations in the gene encoding microphthalmia-associated transcription factor (MITF) and characterized by deafness and hypopigmentation due to lack of melanocytes in the inner ear and skin. " 04/01/1998 - "Mutations in MITF (microphthalmia transcription factor) cause Waardenburg syndrome type 2 (WS2A) in humans, an autosomal dominant disorder consisting of deafness and hypopigmentation. "
2.	Transcription Factors (Transcription Factor)IBA 01/01/2006 - "The Snail-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to cause piebaldism and Waardenburg syndrome type 2 in a dose-dependent fashion. " 04/28/2005 - "The SNAIL-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to contribute to piebaldism and Waardenburg syndrome type 2 in a dose-dependent fashion. "
3.	Protein Isoforms (Isoforms)IBA 06/01/2003 - "Melanocyte-specific MITF isoform (MITF-M) is of particular interest, because a heterozygous mutation in the MITF gene is associated with Waardenburg syndrome type 2 (WS2) that is characterized by deafness and hypopigmentation because of lack of melanocytes in the inner ear and skin. "
4.	Endothelin-3 (Endothelin 3)IBA 04/01/1996 - "Here, we describe a mutation of the human gene for endothelin 3 (EDN3), homozygously present in a patient with a combined Waardenburg syndrome type 2 (WS2) and HSCR phenotype (Shah-Waardenburg syndrome). "
5.	Stem Cell FactorIBA 11/05/2015 - "Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2."
6.	Retinaldehyde (Retinal)IBA 01/01/2003 - "The 11 students were classified as having Waardenburg syndrome type 2. None had a critical visual deficit, and all had partial heterochromia irides and retinal hypopigmentation."
7.	Proteins (Proteins, Gene)FDA Link 09/01/2022 - "Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper- and hypopigmentation, all of which are inherited in an autosomal dominant manner. "
8.	AminoglycosidesIBA 10/12/2005 - "To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2. Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. "