Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience.

abstract：BACKGROUND:Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treatment and management s...

journal_title：Orphanet journal of rare diseases

authors： Abdelhakim M,McMurray E,Syed AR,Kafkas S,Kamau AA,Schofield PN,Hoehndorf R

更新日期：2020-06-11 00:00:00

abstract：BACKGROUND:Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient's quality of life (QOL). The aim of this study was t...

journal_title：Orphanet journal of rare diseases

authors： Hatano T,Ohno Y,Imai Y,Moritake J,Endo K,Tamari M,Egawa S

更新日期：2020-06-01 00:00:00

abstract：BACKGROUND:Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in more than 20 differe...

journal_title：Orphanet journal of rare diseases

authors： Zhytnik L,Simm K,Salumets A,Peters M,Märtson A,Maasalu K

更新日期：2020-05-27 00:00:00

abstract：BACKGROUND:Von Hippel-Lindau (VHL) disease is a multi-systemic hereditary disease associated with several benign and malignant tumor entities, including clear cell renal cell carcinoma (ccRCC). Since ccRCCs grow slowly, nephron sparing surgery is typically performed at a tumor diameter of 3-4 cm before the tumor metast...

journal_title：Orphanet journal of rare diseases

authors： Schuhmacher P,Kim E,Hahn F,Sekula P,Jilg CA,Leiber C,Neumann HP,Schultze-Seemann W,Walz G,Zschiedrich S

更新日期：2019-10-28 00:00:00

abstract：BACKGROUND:Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described ...

journal_title：Orphanet journal of rare diseases

authors： Lassuthova P,Sišková D,Haberlová J,Sakmaryová I,Filouš A,Seeman P

更新日期：2014-04-01 00:00:00

abstract：BACKGROUND:The small cell ovarian carcinoma of the hypercalcemic type (SCCOHT) which preferably affects young women during regenerative age represents a rare and aggressive form of ovarian tumors with poor prognosis and lacks an efficient therapy. METHODS AND RESULTS:In vitro chemotherapy testing in a fluorescence ass...

journal_title：Orphanet journal of rare diseases

authors： Otte A,Rauprich F,Hillemanns P,Park-Simon TW,von der Ohe J,Hass R

更新日期：2014-08-08 00:00:00

abstract：BACKGROUND:The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondylometaphyseal dysplasia Kozlowski type (SMDK) and metatropic dysplasia (MD) are...

journal_title：Orphanet journal of rare diseases

authors： Andreucci E,Aftimos S,Alcausin M,Haan E,Hunter W,Kannu P,Kerr B,McGillivray G,McKinlay Gardner RJ,Patricelli MG,Sillence D,Thompson E,Zacharin M,Zankl A,Lamandé SR,Savarirayan R

更新日期：2011-06-09 00:00:00

abstract：BACKGROUND:We report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. The clinical presentation includes intractable seizures, developmental delay, microcephaly, dysostosis, osteopeni...

journal_title：Orphanet journal of rare diseases

authors： Stockler S,Corvera S,Lambright D,Fogarty K,Nosova E,Leonard D,Steinfeld R,Ackerley C,Shyr C,Au N,Selby K,van Allen M,Vallance H,Wevers R,Watkins D,Rosenblatt D,Ross CJ,Conibear E,Wasserman W,van Karnebeek C

更新日期：2014-09-20 00:00:00

abstract：BACKGROUND:Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are hete...

journal_title：Orphanet journal of rare diseases

authors： Mauhin W,Habarou F,Gobin S,Servais A,Brassier A,Grisel C,Roda C,Pinto G,Moshous D,Ghalim F,Krug P,Deltour N,Pontoizeau C,Dubois S,Assoun M,Galmiche L,Bonnefont JP,Ottolenghi C,de Blic J,Arnoux JB,de Lonlay P

更新日期：2017-01-05 00:00:00

abstract：BACKGROUND:Fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) is a form of tumor progression of dermatofibrosarcoma protuberans (DFSP) with an increased risk of metastasis and recurrence. Few studies have compared the clinicopathological features of FS-DFSP and conventional DFSP (C-DFSP). OBJECTIVES:To better ...

journal_title：Orphanet journal of rare diseases

authors： Li Y,Liang J,Xu X,Jiang X,Wang C,Chen S,Xiang B,Ji Y

更新日期：2021-01-26 00:00:00

abstract：:In 1581 Rembert Dodoens wrote "Medicinalium observationum exempla rara, recognita et aucta" a Latin book about the diagnosis and treatment of disorders with a low prevalence. ...

journal_title：Orphanet journal of rare diseases

authors： Dooms MM

更新日期：2015-12-21 00:00:00

abstract：:Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000-8000 individuals worldwide. This rare disease is characterized by various vascular defects including epistaxis, blood vessel dilations (telangiectasia) and arteriovenous malformations (AV...

journal_title：Orphanet journal of rare diseases

authors： Robert F,Desroches-Castan A,Bailly S,Dupuis-Girod S,Feige JJ

更新日期：2020-01-07 00:00:00

abstract：:Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem...

journal_title：Orphanet journal of rare diseases

authors： Verma AS,Fitzpatrick DR

更新日期：2007-11-26 00:00:00

abstract：:The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6...

journal_title：Orphanet journal of rare diseases

authors： Cereda A,Carey JC

更新日期：2012-10-23 00:00:00

abstract：BACKGROUND:Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population. METHODS:In a nationwide cohort study from 1992 to 2017, records of 333 persons (tota...

journal_title：Orphanet journal of rare diseases

authors： Baravelli CM,Aarsand AK,Sandberg S,Tollånes MC

更新日期：2020-02-21 00:00:00

abstract：BACKGROUND:Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitudinal data on functional disease progression and safety observations in...

journal_title：Orphanet journal of rare diseases

authors： Patterson MC,Mengel E,Vanier MT,Schwierin B,Muller A,Cornelisse P,Pineda M,NPC Registry investigators.

更新日期：2015-05-28 00:00:00

abstract：BACKGROUND:Behçet's Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patients' quality of life. Other clinical manifestations include ocular inflammation, rheumatologic and ski...

journal_title：Orphanet journal of rare diseases

authors： Senusi A,Seoudi N,Bergmeier LA,Fortune F

更新日期：2015-09-22 00:00:00

abstract：BACKGROUND:Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a lesser extent MADH4 and GDF2, which encode proteins involved in the TGF-β/BMP9 signaling pathway. C...

journal_title：Orphanet journal of rare diseases

authors： Giraud S,Bardel C,Dupuis-Girod S,Carette MF,Gilbert-Dussardier B,Riviere S,Saurin JC,Eyries M,Patri S,Decullier E,Calender A,Lesca G

更新日期：2020-09-22 00:00:00

abstract：BACKGROUND:Thalassaemia is a potentially life-threatening yet preventable inherited hemoglobin disorder. Understanding local socio-cultural context and level of public awareness about thalassaemia is pivotal for selecting effective prevention strategies. This study attempted to assess knowledge and perceptions about th...

journal_title：Orphanet journal of rare diseases

authors： Hossain MS,Hasan MM,Raheem E,Islam MS,Al Mosabbir A,Petrou M,Telfer P,Siddiqee MH

更新日期：2020-02-21 00:00:00

abstract：:Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal motility disorder with significant morbidity and mortality in pediatric patients. The diagnosis of CIPO is difficult, because it is clinically based on the symptoms and signs of bowel obstruction which are similar to the clinical manifestations of other...

journal_title：Orphanet journal of rare diseases

authors： Yan JK,Zhou KJ,Huang JH,Wu QQ,Zhang T,Wang CC,Cai W

更新日期：2017-03-28 00:00:00

abstract：BACKGROUND:LCHADD is a long-fatty acid oxidation disorder with immediate symptoms and long-term complications. We evaluated data on clinical status, biochemical parameters, therapeutic regimens and outcome of Austrian LCHADD patients. STUDY DESIGN:Clinical and outcome data including history, diagnosis, short- and long...

journal_title：Orphanet journal of rare diseases

authors： Karall D,Brunner-Krainz M,Kogelnig K,Konstantopoulou V,Maier EM,Möslinger D,Plecko B,Sperl W,Volkmar B,Scholl-Bürgi S

更新日期：2015-02-22 00:00:00

abstract：BACKGROUND:Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and pat...

journal_title：Orphanet journal of rare diseases

authors： Guillén-Navarro E,Domingo-Jiménez MR,Alcalde-Martín C,Cancho-Candela R,Couce ML,Galán-Gómez E,Alonso-Luengo O

更新日期：2013-06-25 00:00:00

abstract：BACKGROUND:Short-chain enoyl-CoA hydratase (SCEH, encoded by ECHS1) catalyzes hydration of 2-trans-enoyl-CoAs to 3(S)-hydroxy-acyl-CoAs. SCEH has a broad substrate specificity and is believed to play an important role in mitochondrial fatty acid oxidation and in the metabolism of branched-chain amino acids. Recently, t...

journal_title：Orphanet journal of rare diseases

authors： Ferdinandusse S,Friederich MW,Burlina A,Ruiter JP,Coughlin CR 2nd,Dishop MK,Gallagher RC,Bedoyan JK,Vaz FM,Waterham HR,Gowan K,Chatfield K,Bloom K,Bennett MJ,Elpeleg O,Van Hove JL,Wanders RJ

更新日期：2015-06-18 00:00:00

abstract：BACKGROUND:Severe to profound sensorineural hearing loss (SNHL) requires cochlear implantation (CI) for auditory rehabilitation. Etiologic diagnoses can contribute to candidacy selection and decision-making regarding the timing of successful CI. However, few studies have been performed to address the etiologic spectrum...

journal_title：Orphanet journal of rare diseases

authors： Park JH,Kim NK,Kim AR,Rhee J,Oh SH,Koo JW,Nam JY,Park WY,Choi BY

更新日期：2014-11-06 00:00:00

abstract：BACKGROUND:The objective of this study was to assess the potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement (P&R) process with regard to orphan drugs. METHODS:A four step approach was designed. Firstly, a systematic literature review was conduct...

journal_title：Orphanet journal of rare diseases

authors： Kolasa K,Zwolinski KM,Kalo Z,Hermanowski T

更新日期：2016-03-10 00:00:00

abstract：BACKGROUND:Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the...

journal_title：Orphanet journal of rare diseases

authors： Semeraro M,Sacchetti E,Deodato F,Coşkun T,Lay I,Catesini G,Olivieri G,Rizzo C,Boenzi S,Dionisi-Vici C

更新日期：2021-01-09 00:00:00

abstract：BACKGROUND:Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especially the contribution of glial cells and gliosis to the progression of NPC1, are controversially dis...

journal_title：Orphanet journal of rare diseases

authors： Peter F,Rost S,Rolfs A,Frech MJ

更新日期：2017-08-25 00:00:00

abstract：OBJECTIVE:To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation. METHODS:We prospectively analyzed 40 consecutive patients with a diagnosis of laminopathy followed at a single centre between 1998 and 2...

journal_title：Orphanet journal of rare diseases

authors： Ditaranto R,Boriani G,Biffi M,Lorenzini M,Graziosi M,Ziacchi M,Pasquale F,Vitale G,Berardini A,Rinaldi R,Lattanzi G,Potena L,Martin Suarez S,Bacchi Reggiani ML,Rapezzi C,Biagini E

更新日期：2019-11-19 00:00:00

abstract：BACKGROUND:Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because only some of the features observed during natural aging are accelerated. METHODS:Since 2015, the M...

journal_title：Orphanet journal of rare diseases

authors： Grelet M,Blanck V,Sigaudy S,Philip N,Giuliano F,Khachnaoui K,Morel G,Grotto S,Sophie J,Poirsier C,Lespinasse J,Alric L,Calvas P,Chalhoub G,Layet V,Molin A,Colson C,Marsili L,Edery P,Lévy N,De Sandre-Giovannoli A

更新日期：2019-12-11 00:00:00

abstract：BACKGROUND:Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment. The management of PKU should start as soon as possible after diagno...

journal_title：Orphanet journal of rare diseases

authors： Trefz KF,Muntau AC,Kohlscheen KM,Altevers J,Jacob C,Braun S,Greiner W,Jha A,Jain M,Alvarez I,Lane P,Schröder C,Rutsch F

更新日期：2019-07-22 00:00:00