Literature DB >> 6876115

A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.

N J Woodhouse, N A Sakati.   

Abstract

A distinct and previously undescribed syndrome has been observed in six Saudi Arabian patients from two highly inbred families. The parents were normal, indicating an autosomal recessive pattern of inheritance. All the patients have a distinctive facial appearance, hypogonadism, sparse or absent hair, diabetes mellitus, mental retardation, mild deafness, and variable S-T and T wave abnormalities on the electrocardiograph.

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Year:  1983        PMID: 6876115      PMCID: PMC1049050          DOI: 10.1136/jmg.20.3.216

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  4 in total

1.  Congenital familial testicular deficiency.

Authors:  A R SOHVAL; L J SOFFER
Journal:  Am J Med       Date:  1953-03       Impact factor: 4.965

2.  Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function.

Authors:  J L Males; J L Townsend; R A Schneider
Journal:  Arch Intern Med       Date:  1973-04

3.  A familial syndrome of deafness, alopecia, and hypogonadism.

Authors:  B F Crandall; L Samec; R S Sparkes; S W Wright
Journal:  J Pediatr       Date:  1973-03       Impact factor: 4.406

4.  Pili torti and sensory neural hearing loss.

Authors:  G C Robinson; M M Johnston
Journal:  J Pediatr       Date:  1967-04       Impact factor: 4.406

  4 in total
  25 in total

1.  Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.

Authors:  Mansoor C Abdulla; Anas M Alazami; Jemshad Alungal; Jassim M Koya; Mohthash Musambil
Journal:  J Genet       Date:  2015-09       Impact factor: 1.166

2.  Woodhouse Sakati syndrome associated with bilateral keratoconus.

Authors:  S A Al-Swailem; A A Al-Assiri; A A Al-Torbak
Journal:  Br J Ophthalmol       Date:  2006-01       Impact factor: 4.638

Review 3.  Genetics of neurodegeneration with brain iron accumulation.

Authors:  Allison Gregory; Susan J Hayflick
Journal:  Curr Neurol Neurosci Rep       Date:  2011-06       Impact factor: 5.081

4.  A case of hypogonadism presented with alopecia universalis.

Authors:  Gökhan Celbek; Hakan Turan; Yusuf Aydın; Fatih Ermiş
Journal:  Balkan Med J       Date:  2013-09       Impact factor: 2.021

Review 5.  Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.

Authors:  M Agopiantz; P Corbonnois; A Sorlin; C Bonnet; M Klein; N Hubert; V Pascal-Vigneron; P Jonveaux; T Cuny; B Leheup; G Weryha
Journal:  J Endocrinol Invest       Date:  2014-01-08       Impact factor: 4.256

6.  A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.

Authors:  A Wali; P John; A Gul; K Lee; M S Chishti; G Ali; M J Hassan; S M Leal; W Ahmad
Journal:  Clin Genet       Date:  2006-09       Impact factor: 4.438

Review 7.  Neurodegenerative disorders associated with diabetes mellitus.

Authors:  Michael Ristow
Journal:  J Mol Med (Berl)       Date:  2004-06-03       Impact factor: 4.599

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

Authors:  Anas M Alazami; Amr Al-Saif; Abdulaziz Al-Semari; Saeed Bohlega; Soumaya Zlitni; Fatema Alzahrani; Prashant Bavi; Namik Kaya; Dilek Colak; Hanif Khalak; Andy Baltus; Borut Peterlin; Sumita Danda; Kailash P Bhatia; Susanne A Schneider; Nadia Sakati; Christopher A Walsh; Futwan Al-Mohanna; Brian Meyer; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2008-11-20       Impact factor: 11.025

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

Authors:  Tawfeg Ben-Omran; Rehab Ali; Mariam Almureikhi; Seham Alameer; Muna Al-Saffar; Christopher A Walsh; Jillian M Felie; Ahmad Teebi
Journal:  Am J Med Genet A       Date:  2011-09-30       Impact factor: 2.802

10.  Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imaging.

Authors:  Syed Omar Shah; Hasit Mehta; Robert Fekete
Journal:  Case Rep Neurol       Date:  2012-12-05
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