Woodhouse sakati syndrome wiki. scientific article published on 26 November 2015.

Woodhouse sakati syndrome wiki. 436delC variant has been reported as a .

Woodhouse sakati syndrome wiki Sep 28, 2024 · Background Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive condition caused by biallelic pathogenic variants in the DCAF17 gene, with fewer than 200 cases reported in the literature. This syndrome was first reported by Woodhouse and Sakati (Woodhouse and Sakati, 1983). Some researchers classify Woodhouse-Sakati syndrome into two types, depending on the signs and symptoms. This syndrome is related to an inherited Woodhouse–Sakati syndrome, also called hypogonadism, alopecia, diabetes mellitus, intellectual disability and extrapyramidal syndrome, [1] is a rare autosomal recessive [2] multisystem disorder which causes malformations throughout the body, and deficiencies affecting the endocrine system. This syndrome is related t … Woodhouse–Sakati syndrome (WSS) (OMIM#241080) is a rare multi-system autosomal recessive disease with homozygous mutation of the DCAF17 gene. Orphanet Journal of Rare Diseases, 18(1), 22. The condition is inherited autosomally recessively. What is the outlook for patients with this syndrome? white matter lesions can further distinguish Woodhouse-Sakati syndrome from other neurodegenerative diseases with brain iron accu-mulation subtypes. May 25, 2016 · Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is However, if two Woodhouse-Sakati syndrome carriers have a child together, then there is a 25% chance that they will both pass on their recessive DCAF17 gene mutations and have a child with Woodhouse-Sakati syndrome. Movement Disorders. The syndrome is named after the two doctors, M. In Qatar, the c. Aug 23, 2024 · How is the syndrome diagnosed? Diagnosis includes analysis of clinical manifestations, genetic testing and radiological studies. Woodhouse-Sakati syndrome Description Woodhouse-Sakati syndrome is a disorder that primarily affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. To date, approximately 98 genetically confirmed WSS families have been reported worldwide. Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. Feb 5, 2024 · A literature search was done on PubMed using the keywords “Woodhouse-Sakati syndrome”, “Parkinsonism and endocrinological features”, “Parkinsonism and alopecia”, “DCAF17” and “C2orf37”, searching for the epidemiology, genetic, pathophysiology, clinical features, diagnosis, differential diagnosis, and treatment of WSS. It is a multi-systemic syndrome that primarily affects the endocrine and nervous systems in the context of increased iron deposition in the brain . The syndrome presents prominent clinical features, including alopecia, neuroendocrine defects, neurological findings and progressive hearing loss. Woodhouse-Sakati syndrome: case report and symptoms review. However, diagnostic criteria have not been published yet. Woodhouse Sakati Syndrome Market growth is projected to reach USD 288. 2 While most cases are from Saudi Arabia and the Middle East, 2,3 affected Jan 31, 2023 · Background Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. Jul 23, 2024 · Woodhouse-Sakati syndrome (WSS) is a rare eponymous disease described by Drs. Woodhouse and N. ABBREVIATIONS: NBIA neurodegenerative diseases with brain iron accumulation; WSS Woodhouse-Sakati syndrome; SNHL sensorineural hearing loss I n 1983, Woodhouse and Sakati1 described an autosomal reces- Aug 29, 2022 · Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neurodegenerative genetic disorder caused by mutations in the DCAF17 gene. Articles on Woodhouse-Sakati syndrome in N Eng J Med, Lancet, BMJ. 1 reference Woodhouse-Sakati syndrome )WSS( is a rare genetic condition of autosomal recessive inheritance pattern. The disease is caused by biallelic pathogenic variants in the DCAF17 gene. Woodhouse-Sakati syndrome (WSS) is a rare genetic condition of autosomal recessive inheritance pattern. 6424: Al-Swailem SAAl-Torbak AA: 16361682: 2006: 27: Splicing in action: assessing disease causing sequence Articles on Woodhouse-Sakati syndrome in N Eng J Med, Lancet, BMJ. Sakati, who first described the condition What links here; Related changes; Upload file; Special pages; Permanent link; Page information May 18, 2012 · In affected members of 2 Saudi families with Woodhouse-Sakati syndrome, including 1 of the original families described by Woodhouse and Sakati (1983), Alazami et al. Clinical resource with information about Woodhouse-Sakati syndrome and its clinical features, DCAF17, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials. Sakati. The condition results from mutations in the DCAF17 gene. What is the treatment for Woodhouse-Sakati syndrome? Treatment may include surgery, medication, and psychological support. Media Powerpoint slides on Woodhouse-Sakati syndrome. Evidence Based Medicine Cochrane Collaboration on Woodhouse-Sakati Feb 5, 2024 · A literature search was done on PubMed using the keywords “Woodhouse-Sakati syndrome”, “Parkinsonism and endocrinological features”, “Parkinsonism and alopecia”, “DCAF17” and “C2orf37”, searching for the epidemiology, genetic, pathophysiology, clinical features, diagnosis, differential diagnosis, and treatment of WSS. Woodhouse-Sakati syndrome (WSS) (OMIM # 241080) is an autosomal recessive rare disease that manifests during adolescence and is characterized by extrapyramidal symptoms, dystonia, cognitive impairment, hypogonadism, alopecia and diabetes mellitus. Several endocrine organs may be affected in the course of the disease. [ 1 ] This is one of the classic congenital premature aging syndromes, occurring early in life, others being pangeria ( Werner's syndrome ) and progeria In 1983, Woodhouse and Sakati 1 described an autosomal recessive syndrome of hypogonadism, alopecia, diabetes mellitus, deafness, and extrapyramidal signs in several consanguineous Saudi families. J. Noun [edit] Woodhouse-Sakati syndrome (uncountable) Dec 23, 2021 · Woodhouse-Sakati syndrome (WSS) (OMIM#241080) is a rare multi-system autosomal recessive disease with homozygous mutation of the DCAF17 gene. Jul 23, 2024 · Woodhouse-Sakati syndrome (WSS, MIM 241080) is a rare neuroendocrine disease characterized by hair loss, hypogonadism, diabetes, hearing loss, and extrapyramidal syndrome, and is usually caused by Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. The purpose of this study was to describe the spectrum of brain MR imaging abnormalities in Woodhouse-Sakati syndrome. [ 2 ] Woodhouse-Sakati Syndrome is a very rare autosomal recessive disorder caused by pathogenic variants in the DCAF17 gene, which encodes DDB1- and CUL4-associated factor 17. Three siblings with Woodhouse-Sakati syndrome in an Indian family. Na obraz zespołu składają się łysienie plackowate, hipogonadyzm, postępujący zespół pozapiramidowy, leukoencefalopatia, czuciowo-nerwowa utrata słuchu i cukrzyca. Etymology [edit] Named after N. The syndrome is characterized by alopecia, hypogonadism, hypothyroidism, hearing loss, intellectual disability and diabetes mellitus. 0001); 6 additional Saudi families with the disorder were also found to be homozygous for the mutation. 436delC variant has been reported as a Nadia Awni Sakati (Arabic: نادية عوني سقطي) is a Syrian-Saudi pediatrician. A couple of years later, a variant in the gene DCAF17 (DDB1 and CUL4-associated factor 17) was labeled as the founder mutation in most cases of WSS in the Arabian Peninsula and the Background: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disease with characteristic neuro-endocrine manifestations. To date, approximately 98 genetically confirm … Language Label Description Also known as; English: C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. The syndrome was first described by Woodhouse and Sakati in 1983, and 47 patients from 23 families have been reported so far. scientific article published on January 2006. From 1983 to the present, the number of patients with WSS has increased May 7, 2019 · Woodhouse-Sakati syndrome Dystonia NBIA Hypogonadism ABSTRACT Background:Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disease with characteristic neuro-endocrine manifestations. Sanjad–Sakati syndrome (Middle East syndrome) is a rare autosomal recessive genetic condition seen in offspring of Middle Eastern origin. The initial description included a distinct facial appearance (long triangular face, prominent nasal bridge, hypertelorism), hypogonadism, alopecia, diabetes mellitus and neuronal deafness [1, 2]. Images of Woodhouse-Sakati syndrome. La evolución y el tratamiento de soporte fueron satisfactorios. 6 years). Language Label Description Also known as; English: Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. 2 –5 To date, a total of 76 affected individuals, belonging to 32 families, have been reported in the literature. scientific article published on 26 July 2019. Statements. Woodhouse-Sakati syndrome; hypogonadism, alopecia, diabetes mellitus, mental retardation and extrapyramidal syndrome) – bardzo rzadki zespół wad wrodzonych. scientific article Apr 17, 2018 · Woodhouse-Sakati Syndrome is associated with mutations in the DCAF17 gene (2q31. Progeroidni sindromi su grupa bolesti zbog kojih žrtve stare brže nego inače, što dovodi do toga da izgledaju starije nego što jesu. Ivano Di Meo, Valeria Tiranti, in European Journal of Paediatric Neurology, 2018. 1 reference. The main features of WSS include diabetes, hypogonadism, alopecia, deafness, intellectual disability and progressive extrapyramidal syndrome. We identified a … Dec 23, 2021 · Woodhouse–Sakati syndrome (WSS) (OMIM#241080) is a rare multi-system autosomal recessive disease with homozygous mutation of the DCAF17 gene. scientific article published on 01 April 2000. 1. 1 Jun 7, 2023 · What Is the Genetics Behind Woodhouse-Sakati Syndrome? Woodhouse-Sakati syndrome is thought to be brought on by mutations in the C2orf37 gene, which may be found in human chromosome 2q22. Progerija je specifičan tip progeroidnih sindroma, također poznata kao Hutchinson-Gilfordov sindrom. scientific article Feb 20, 2024 · Additionally, Woodhouse-Sakati syndrome may present with neurological symptoms, including intellectual disability, dysarthria, dystonia, and hearing loss 1. Woodhouse–Sakati syndrome, [1] is a rare autosomal recessive [2] multisystem disorder which causes malformations throughout the body, and deficiencies affecting the endocrine system. Woodhouse–Sakati syndrome (WSS) is a rare multisystemic disease resulting from an autosomal recessive gene mutation, described for the first time by Woodhouse and Sakati in 1983 following the observation of six Saudi Arabian patients from two highly inbred families [1,2]. Sep 23, 2021 · However, the main symptoms of WSS are alopecia, hypogonadotropic hypogonadism, sensorineural hearing loss, diabetes mellitus, and extrapyramidal movements. Neuro … Dec 23, 2021 · Woodhouse-Sakati syndrome is a rare genetic syndrome caused by homozygous mutations of the DCAF17 gene. More than half of individuals have the neurologic findings of progressive extrapyramidal Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. Dec 2, 2024 · Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene Woodhouse-Sakati Syndrome: First report of a Portuguese case. The responsible gene, DCAF17 located on chromosome 2q31. Woodhouse and Sakati syndrome (MIM 241080): report of a new patient. Genetic epidemiology of Woodhouse-Sakati syndrome in the greater Middle East region and beyond: A systematic review. Case presentation We present a case of WSS with no reportable T2-weighted Jan 31, 2023 · Background. The syndrome was first described by Woodhouse and Sakati in 1983. scholarly article. Woodhouse and Sakati in 1983 as a syndrome of hypogonadism, alopecia, diabetes mellitus, intellectual disability, and ECG abnormalities. Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia Jan 22, 2017 · For this reason, Woodhouse-Sakati syndrome is sometimes classified as part of a group of disorders called neurodegeneration with brain iron accumulation (NBIA). More than half of individuals have the neurologic findings of progressive extrapyramidal movements (dystonic spasms with dystonic posturing with dysarthria and Woodhouse–Sakati syndrome is a rare autosomal recessive genetic disorder characterized by a variety of clinical features, including hypogonadism, alopecia, diabetes mellitus, hearing loss, and intellectual disability. Radiographic features Imaging findings include a small pituitary gland , increased iron deposition in the basal ganglia, and on MRI, non-enhancing T2/FLAIR hyperintensities in the Acrogeria (Gottron's syndrome) is a skin condition characterized by premature aging, typically in the form of unusually fragile, thin skin on the hands and feet (distal extremities). WSS is characterized by a variety of predominantly endocrine and nervous system abnormalities including hypogonadism, diabetes mellitus (DM; in 95% of patients), hypothyroidism, low insulin-like growth factor (IGF-1) levels Dec 5, 2022 · Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive multi-system genetic disease caused by loss of function mutations in the DCAF17 gene on chromosome 2q31. The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by a … Nov 1, 2021 · Woodhouse-Sakati syndrome (WSS) is a rare genetic condition of autosomal recessive inheritance pattern. gov or . Woodhouse-Sakati Syndrome is a multisystem disorder featuring such symptoms as hypogonadism (too little hormone for normal sex gland functioning), alopecia (hair loss), diabetes, intellectual deficits and dystonia, a movement disorder common in NBIA. Electrocardiogram anomalies have also been reported. We report on an additional seven patients (four males and three females) from two highly consanguineous Arab families from Qatar, presenting with a milder phenotype of Woodhouse-Sakati syndrome. Wikipedia . 1, was discovered in 2008 and to date nine mutations have been reported in the literature. The aim of this study was to systematically review the genetic basis of WSS and Woodhouse-Sakati syndrome (WSS) is characterized by the endocrine findings of hypogonadism, diabetes mellitus, and hypothyroidism and progressive childhood-onset alopecia along with neurologic findings of progressive extrapyramidal movements, sensorineural hearing loss, and intellectual disability. Woodhouse Sakati syndrome (WSS) is an uncommon disorder of autosomal recessive neuroendocrine, further categorized by the extrapyramidal features, sensory neural deafness, mental retardation, diabetes mellitus (DM), hypogonadism, and alopecia. Individuals with WSS present endocrine findings of hypogonadism during puberty. The . Evidence Based Medicine Cochrane Collaboration on Woodhouse-Sakati Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder associated with progressive extrapyramidal signs, mental retardation, alopecia, and a variety of endocrine deficiencies, including diabetes mellitus, hypogonadism, and hypothyroidism. Corrigendum: Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene Min Zhou , 1 , 2 , † Ningjie Shi , 3 , 4 , † Juan Zheng , 3 , 4 , † Yang Chen , 3 , 4 Siqi Wang , 3 , 4 Kangli Xiao , 3 , 4 Zhenhai Cui , 3 , 4 Kangli Qiu , 3 , 4 Feng Zhu , 5 , 6 and Dec 1, 2019 · In 1983, Woodhouse and Sakati described a distinctive autosomal recessive syndrome [MIM 241080] in six patients from two highly inbred Saudi Arabian families [1]. Currently, fewer than 100 WSS patients have been reported, and most of these patients originated from Nov 1, 2021 · Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neurodegenerative genetic disorder caused by mutations in the DCAF17 gene. Feb 20, 2024 · Additionally, Woodhouse-Sakati syndrome may present with neurological symptoms, including intellectual disability, dysarthria, dystonia, and hearing loss 1. Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. People with Woodhouse-Sakati syndrome Jan 11, 2023 · Woodhouse-Sakati syndrome (WSS) was first described in 1983 by Woodhouse and Sakati as a rare genetic disorder following an autosomal recessive pattern of inheritance combined with diabetes mellitus, mental retardation, alopecia, deafness, hypogonadism, and electrocardiographic abnormalities. Language Label Description Also known as; English: Three siblings with Woodhouse-Sakati syndrome in an Indian family. Purpose: To present the successful management of primary amenorrhea in a WSS patient. It is a multisystemic disorder characterized by hypogonadism, adolescent- to young adult-onset diabetes mellitus, hypothyroidism, … Feb 20, 2024 · Additionally, Woodhouse-Sakati syndrome may present with neurological symptoms, including intellectual disability, dysarthria, dystonia, and hearing loss 1. This syndrome is related to an inherited neurodegenerative disorder’s heterogeneous group characterized by the The purpose of this study was to describe the spectrum of brain MR imaging abnormalities in Woodhouse-Sakati syndrome. The signs and symptoms of this condition vary widely among affected individuals, even within the same family. 1 DCAF17 and Woodhouse-Sakati syndrome. WSS encompasses heterogeneous phenotypes and disease course. Europe PubMed Central. MATERIALS AND Aug 29, 2022 · Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the DCAF17 gene. scientific article Jul 24, 2024 · Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder associated with progressive extrapyramidal signs, mental retardation, alopecia, and a variety of endocrine deficiencies, including diabetes mellitus, hypogonadism, and hypothyroidism. Woodhouse-Sakati Syndrome is a rare genetic disorder characterized by a combination of symptoms that affect various parts of the body. Woodhouse and A. As seen in the image to the left, in a pregnancy between two Woodhouse-Sakati syndrome carriers: Woodhouse-Sakati syndrome. Follow-up studies were Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-retardation-dysmorphism syndrome (OMIM #241410), is a rare autosomal recessive disorder seen primarily in those with genetic ties to the Arabian Peninsula. Presentamos un caso de síndrome de Woodhouse Sakati, en una paciente de 11 años de edad, quien presentó alopecia congénita, hipoacusia neurosensorial bilateral, diabetes mellitus insulino dependiente, hipogonadismo primario, retardo del desarrollo psicomotor, comunicación interventricular y disminución de somatomedina C (IGF1). It primarily manifests with endocrinological symptoms such . More than half of individuals have the neurologic findings of progressive extrapyramidal movements (dystonic spasms with dystonic posturing with dysarthria and Woodhouse-Sakati syndrome is a disorder that primarily affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. [ 3 ] Presentation Aug 4, 2016 · Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. People with Woodhouse-Sakati syndrome also experience hair loss beginning in childhood that gradually gets worse, often resulting in the loss of all scalp hair (alopecia totalis) during adulthood. Causes of Woodhouse-Sakati Syndrome. The main causes of this syndrome include mutations in the DCAF17 gene that lead to the dysfunction of certain proteins essential for normal cell function and development. ) Who gets Woodhouse-Sakati Syndrome? Apr 10, 2018 · Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive multi-systemic disorder, characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability and progressive extrapyramidal Syndrome. 6. The progressive disease features varied from person to person, even within the same family. Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive condition caused by biallelic pathogenic variants in the DCAF17 gene, with fewer than 200 cases reported in the literature. Photos of Woodhouse-Sakati syndrome. Nov 2, 2018 · BACKGROUND AND PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, and progressive extrapyramidal signs. Ten of the Das Woodhouse-Sakati-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Funktionsstörung der Keimdrüsen (Hypogonadismus), Diabetes mellitus, Taubheit, Geistige Behinderung und Haarausfall (). Dec 22, 2021 · Woodhouse–Sakati syndrome (WSS) (OMIM#241080) is a rare multi-system autosomal recessive disease with homozygous mutation of the DCAF17 gene. 3-q35, are believed to be a cause of Woodhouse–Sakati syndrome. 3-q35. 57 Million, at a 5. Radiographic features Imaging findings include a small pituitary gland , increased iron deposition in the basal ganglia, and on MRI, non-enhancing T2/FLAIR hyperintensities in the Oct 7, 2023 · Woodhouse–Sakati syndrome (WSS) is a rare multisystemic disease resulting from an autosomal recessive gene mutation, described for the first time by Woodhouse and Sakati in 1983 following the observation of six Saudi Arabian patients from two highly inbred families [1,2]. Al-Semari and Bohlega (2007) described the clinical manifestations of affected patients with Woodhouse-Sakati syndrome from 12 Saudi families. Materials and methods: We reviewed brain MR images of 26 patients with a clinical and genetic diagnosis of Woodhouse-Sakati syndrome (12 males, 14 females; age range, 16-45 years; mean age, 26. Methods PubMed, Science Direct, Scopus, and Web of Aug 4, 2016 · Clinical characteristics. Woodhouse-Sakati syndrome (WSS), first described in a consanguineous Saudi Arabian family in 1983 [], is a rare, autosomal recessive genetic disorder []. The disease is caused by biallelic pathogenic variants in DCAF17 gene. The aim of this study was to systematically review the genetic basis of WSS and report the genetic variants and clinical phenotypes associated with the disease. First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in adolescence. Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. The disorder is transmitted in an autosomal recessive manner (Source: Woodhouse-Sakati Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris. Woodhouse Sakati syndrome (pronunciation: wood-house sah-kah-tee syndrome) is a rare genetic disorder characterized by a variety of symptoms including endocrine abnormalities, dystonia, alopecia, and intellectual disability. A. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized i … Treatment of Manifestations in Individuals with Woodhouse-Sakati Syndrome. 16% CAGR by driving industry size, share, top company analysis, segments research, trends and forecast report 2025 to 2034 Jan 8, 2014 · First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in adolescence. We report on a 52-year old Caucasian woman exhibiting signs of Woodhouse - Sakati syndrome and review the clinical signs and symptoms in patients reported so far. Eyelashes and eyebrows are sparse or absent, and affected men have little or no facial hair. Symptoms first emerge in middle-late adolescence with a spectrum of hypogonadal and progressive neurological features. It primarily manifests with endocrinological symptoms such as hypogonadism, failure to develop secondary sexual characteristics, diabetes, and hypotrichosis. instance of. [1] Sakati aspired to become a doctor since 8th grade at school. It was first described in Saudi Arabia, [ 1 ] but has been seen in Qatari, Kuwaiti, Omani and other children from the Middle East as well as elsewhere. 6424: Rachmiel MParvari R: 21304230: 2011: 26: Woodhouse Sakati syndrome associated with bilateral keratoconus. By using our services, you agree to our use of cookies. Jun 27, 2019 · Woodhouse - Sakati syndrome is caused by a mutation in the DCAF17 gene and inherited in an autosomal recessive manner. The aim of the study was to review WSS descriptively in the light of new case A diabetes MODY (do inglês Maturity onset diabetes of the young) refere-se a qualquer uma das várias formas hereditárias de diabetes que tenha como causa mutações em determinado gene dominante autossomático (herdado de qualquer dos progenitores), o que interfere com a produção de insulina. Genetics. 1), encoding a nucleolar protein of unknown function. 1, was discovered in 2008 and to date nine mutations have been reported in … Woodhouse-Sakati Syndrome: A Case Report from Indonesia Lucky AzIzA AbduLLAh bAwAzIr Keywords: Delayed secondary sexual characteristics, Metabolic abnormalities, Young adult ABSTRACT Woodhouse-Sakati Syndrome (WSS) is an extremely rare autosomal recessive neuroendocrine disease with loss of function mutation of DCAF17 gene, located on Dec 8, 2021 · Woodhouse‐Sakati syndrome (WSS; MIM 241080) is a rare disorder of neuroendocrine origin and is inherited in an autosomal recessive manner. Typical clinical features in this disorder include hypogonadism, alopecia, diabetes mellitus, and progressive extrapyramidal signs [1, 3]. Patients with WSS are characterized by endocrinological and neurological manifestations and neuroradiological findings. It was reported for the first time by Woodhouse and Sakati (1983). gov, PharmGKB Woodhouse-Sakati Syndrome (WSS) is one of the rarest NBIAs. Jul 8, 2021 · Clinical characteristics: Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. Videos on Woodhouse-Sakati syndrome. scientific article. Federal government websites often end in . Cookies help us deliver our services. Podcasts & MP3s on Woodhouse-Sakati syndrome. The disease is characterized by a group of disorders, including diabetes mellitus, alopecia, hypogonadism, intellectual disability, and progressive extrapyramidal signs. [PMC free article] [Google Scholar] Koshy G, Danda S, Thomas N, Mathews V, & Viswanathan V (2008). scientific article published on 26 November 2015. Born on 23 May 1938 in Damascus, Syria, Sakati has contributed to genetics medicine. Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. Woodhouse and Sakati (1983) differentiated this condition from other similar disorders and suggested that this was a previously unreported condition, inherited as an autosomal recessive trait. Etymology. Oct 7, 2023 · Background: Woodhouse-Sakati syndrome (WSS) is a rare multisystemic disease resulting from an autosomal recessive gene mutation characterized by distinctive facial appearance, alopecia, impaired HbA1c, and hypogonadism. Aug 4, 2016 · Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. From 1983 to the present, the number of patients with WSS has increased Sep 28, 2024 · Background: Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive condition caused by biallelic pathogenic variants in the DCAF17 gene, with fewer than 200 cases reported in the literature. The disease is characterized by gradual neurologic degeneration and polyendocrinopathy, particularly noteworthy for hypogonadism, beginning in early adolescence. mil. Radiographic features Imaging findings include a small pituitary gland , increased iron deposition in the basal ganglia, and on MRI, non-enhancing T2/FLAIR hyperintensities in the Aug 29, 2022 · Woodhouse-Sakati syndrome (WSS) is a rare neurodegenerative genetic disorder with an autosomal recessive mode of inheritance caused by mutations in the DCAF17 gene. stated in. Disease definition. Mutations in the C2orf37 gene, located at human chromosome 2q22. 1 Most of the reported families described in the medical literature are from Middle Eastern countries. gov means it's official. (2008) identified homozygosity for a 1-bp deletion in the C2ORF37 gene (612515. Woodhouse Sakati syndrome associated with bilateral keratoconus Q42842994) Background: Woodhouse-Sakati syndrome (WSS) is a rare neuroendocrine and ectodermal disorder inherited in an autosomal recessive pattern.