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    Glossary Woodhouse-Sakati syndrome

    rare genetic disorder causing hair loss, diabetes, and other symptoms

    Woodhouse-Sakati syndrome is a rare genetic disorder characterized by a combination of symptoms including hair loss (alopecia), diabetes, hearing loss, intellectual disability, and hypogonadism (underdeveloped sex organs). It is caused by mutations in the DCAF17 gene and is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations.

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    Research 30 of 89

    1. <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients Clinical genetics · 2010 · 43 citations
    2. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature Journal of endocrinological investigation · 2014 · 31 citations
    3. Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review American Journal of Medical Genetics Part A · 2021 · 10 citations
    4. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome Case reports in genetics · 2015 · 7 citations
    5. Woodhouse-Sakati syndrome (WSS) Saudi medical journal · 2021 · 5 citations
    6. Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family Journal of clinical laboratory analysis · 2021 · 4 citations
    7. Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene Frontiers in endocrinology · 2021 · 3 citations
    8. Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters JCEM Case Reports · 2024 · 1 citations
    9. Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family Frontiers in genetics · 2021 · 1 citations
    10. Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods” Canadian journal of neurological sciences · 2021 · 1 citations
    11. Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide Cureus · 2026
    12. Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings Scholars Journal of Medical Case Reports · 2021
    13. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity Journal of Rare Diseases · 2024
    14. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018 · 14 citations
    15. Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia Clinical Neurology and Neurosurgery · 2012 · 9 citations
    16. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability European Journal of Human Genetics · 2015 · 19 citations
    17. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
    18. Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy Pediatric Endocrinology Diabetes and Metabolism · 2024 · 1 citations
    19. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010 · 151 citations
    20. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    21. Fibroblast Lineage Switching as the Developmental Origin of Scarring and Target for Regenerative Healing Biology · 2026
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    23. Body composition changes and inhibition of fat development in vivo implicates androgen in regulation of stem cell lineage allocation Journal of Cellular Biochemistry · 2011 · 37 citations
    24. Pharmacology of anabolic steroids British Journal of Pharmacology · 2008 · 441 citations
    25. Androgen Therapy in Women: An Endocrine Society Clinical Practice Guideline The Journal of Clinical Endocrinology and Metabolism · 2006 · 282 citations
    26. Epigenetic control of adult stem cell function Nature Reviews Molecular Cell Biology · 2016 · 179 citations
    27. Effect of Testosterone Supplementation With and Without a Dual 5α-Reductase Inhibitor on Fat-Free Mass in Men With Suppressed Testosterone Production JAMA · 2012 · 124 citations
    28. Epidermal β-catenin activation remodels the dermis via paracrine signalling to distinct fibroblast lineages Nature Communications · 2016 · 115 citations
    29. Safety of testosterone treatment in postmenopausal women Fertility and Sterility · 2007 · 81 citations
    30. Exogenous Testosterone Alone or With Finasteride Does Not Improve Measurements of Cognition in Healthy Older Men With Low Serum Testosterone International Journal of Andrology · 2007 · 77 citations