KEGG DISEASE: Tietz syndrome

KEGG

DISEASE: Tietz syndrome

Entry

H01187                      Disease

Name

Tietz syndrome;
Albinism-deafness syndrome

Description

Tietz syndrome is an autosomal dominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2) [DS:H00169], which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2.

Category

Skin disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC23  Genetic disorders of skin pigmentation
    H01187  Tietz syndrome

Pathway

Mitophagy - animal

Osteoclast differentiation

Melanogenesis

Gene

MITF [HSA:4286] [KO:K09455]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S

Title

Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.

Journal

Nat Genet 37:1247-52 (2005)
DOI:10.1038/ng1654

Reference

Authors

Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S

Title

The syndrome of inherited partial SBP2 deficiency in humans.

Journal

Antioxid Redox Signal 12:905-20 (2010)
DOI:10.1089/ars.2009.2892

Reference

Authors

Smith SD, Kelley PM, Kenyon JB, Hoover D

Title

Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.

Journal

J Med Genet 37:446-8 (2000)
DOI:10.1136/jmg.37.6.446

Reference

Authors

Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM

Title

Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).

Journal

Clin Dysmorphol 7:17-20 (1998)

LinkDB

» Japanese version

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