KEGG DISEASE: Woodhouse-Sakati syndrome

KEGG

DISEASE: Woodhouse-Sakati syndrome

Entry

H00682                      Disease

Name

Woodhouse-Sakati syndrome;
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome

Description

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alopecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal signs. Additional manifestations include sensorineural hearing loss, seizures, T-wave abnormalities on ECG, and polyneuropathy. The syndrome is caused by mutation of the C2orf37 gene encoding a nucleolar protein.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain other specified disorders of pituitary gland
     H00682  Woodhouse-Sakati syndrome

Gene

C2orf37 [HSA:80067] [KO:K23331]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Medica I, Sepcic J, Peterlin B

Title

Woodhouse-Sakati syndrome: case report and symptoms review.

Journal

Genet Couns 18:227-31 (2007)

Reference

Authors

Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS

Title

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Journal

Am J Hum Genet 83:684-91 (2008)
DOI:10.1016/j.ajhg.2008.10.018

Reference

Authors

Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS

Title

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

Journal

Clin Genet 78:585-90 (2010)
DOI:10.1111/j.1399-0004.2010.01441.x

Reference

Authors

Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A

Title

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene.

Journal

Am J Med Genet A 155:2647-53 (2011)
DOI:10.1002/ajmg.a.34219

LinkDB

» Japanese version

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