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  • Erdheim–chester Disease Wikipedia
    Retrieved 2017-12-21 . ^ Lutz, S; Schmalzing, M; Vogel-Claussen, J; Adam, P; May, A (2011). ... S2CID 9513277 . ^ a b "Erdheim Chester Disease" . M. D. Anderson Cancer Center . Retrieved 2007-08-26 . ^ a b Egan, Aoife; Sorajja, Dan; Jaroszewski, Dawn; Mookadam, Farouk (2012). ... S2CID 24258121 . ^ Myra, C; Sloper, L; Tighe, PJ; McIntosh, RS; Stevens, SE; Gregson, RH; Sokal, M; Haynes, AP; Powell, RJ (2004). "Treatment of Erdheim-Chester disease with cladribine: A rational approach" . ... PMID 18502845 . Janku, F.; Amin, H. M.; Yang, D.; Garrido-Laguna, I.; Trent, J.
    BRAF, ASAH1, CD68, CD1A, EPHB2, MAP2K7, MAPK1, AR, PIK3CA, AKT1, SPP1, CCL18, ZHX2, VEGFA, SEMA4D, S100A1, SMUG1, ZBTB46, S100B, PIK3CG, RAF1, MAP2K1, PIK3CD, PIK3CB, IL1B, IL1A, GNAQ, GNA11, FLCN
    • Erdheim-Chester Disease Gard
      Erdheim-Chester disease (ECD) is a rare condition that can affect many parts of the body. It has been diagnosed in children, but it most commonly affects adults. ECD causes the over-production of immune cells called histiocytes , which then accumulate in tissues and organs in the body. Parts of the body that may be involved include the long bones, retroperitoneum , skin, eyes and eyelids, lungs, brain, heart, kidneys, and pituitary gland; however various other tissues or organs can be affected. The signs and symptoms of ECD vary from person to person depending upon the specific locations and extent of involvement.
    • Erdheim-Chester Disease Orphanet
      Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement. Epidemiology Prevalence is unknown. More than 500 cases (<15 pediatric) have been reported since 1930. Clinical description ECD usually presents in adults aged 40-60 with a 3:1 male to female ratio. Clinical course varies from asymptomatic to multisystemic, life-threatening forms. The pathognomonic feature of ECD is osteosclerosis of the long bones manifesting as bone pain, mainly affecting the distal lowerlimbs (50% of cases).
    • Erdheim-Chester Disease Medlineplus
      Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (histiocytosis) leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure. People with Erdheim-Chester disease often have bone pain, especially in the lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). Damage to the pituitary gland (a structure at the base of the brain that produces several hormones, including a hormone that controls the amount of water released in the urine) may result in hormonal problems such as a condition called diabetes insipidus that leads to excessive urination.
  • Electroanalgesia Wikipedia
    . ^ McDowell, Brona C.; Andrea S. Lowe; Deirdre M. Walsh; G. David Baxter; Jim M. Allen (September 1996). ... Retrieved 2009-06-02 . ^ McDowell, Brona C.; Kenneth McCormack; Deirdre M. Walsh; David G. Baxter; Jim M. Allen (September 1999).
  • Kernohan's Notch Wikipedia
    "Comment on 'Kernohan's notch' by J. M. S. Pearce" . European Neurology . 57 (4): 251. doi : 10.1159/000101294 . ... PMID 15368030 . Jones, K; Seeger J; Yoshino M (1991). "Ipsilateral motor deficit resulting from a subdural hematoma and Kernohan notch". ... Arch Neurol Psychiatry . 21 (2): 274–287. doi : 10.1001/archneurpsyc.1929.02210200030004 . Kole, M; Hysell S (2000). "MRI correlate of Kernohan's notch" . ... "Comment on 'Kernohan's notch' by J. M. S. Pearce - Reply" . European Neurology . 57 (4): 252. doi : 10.1159/000101295 .
  • Ventriculitis Wikipedia
    Microbiol . 57 (Pt 5): 668–71. doi : 10.1099/jmm.0.47710-0 . PMID 18436604 . ^ Coen M, O'Sullivan M, Bubb WA, Kuchel PW, Sorrell T (December 2005). ... PMID 16267730 . ^ Dalgic N, Ceylan Y, Sancar M, Telhan L, Kafadar I, Cavusoglu H, Ceylan O, Hasim O (June 2009). ... PMID 18201987 . ^ Prabhu VC, Kaufman HH, Voelker JL, Aronoff SC, Niewiadomska-Bugaj M, Mascaro S, Hobbs GR (September 1999).
  • Alogia Wikipedia
    Archived from the original on 2012-04-02. ^ Alpert, M; Kotsaftis, A; Pouget, ER (1997). ... Schizophrenia Bulletin . 23 (2): 171–177. doi : 10.1093/schbul/23.2.171 . PMID 9165627 . ^ a b Alpert, M; Clark, A; Pouget, ER (1994). "The syntactic role of pauses in the speech patients with schizophrenia and alogia". Journal of Abnormal Psychology . 103 : 750–757. doi : 10.1037/0021-843X.103.4.750 . ^ Sumiyoshi, C.; Sumiyoshi, T.; Nohara, S.; Yamashita, I.; Matsui, M.; Kurachi, M.; Niwa, S. (Apr 2005).
    L1CAM, PLAT, GRIN2A, GRN, C9orf72, APP, NOTCH3, SLC16A2, PSEN2, PSEN1, PRNP, PLEC, ACTB, TRNS2, TRNS1, ACTG1, TRNL1, TRNH, TRNF, TRNW, SMARCA2, ND5, ADA2, CKAP2L, AMER1, EHMT1, TMEM106B, NDUFB11, TREM2, CHMP2B, SORL1, ERLIN2, TOMM40, ABCA7, ADAMTS2, VCP, TCF4, ND6, TRNQ, ND4, HNRNPA2B1, ATP1A2, COL1A2, COX7B, DDX3X, ND1, FGFR1, HLA-DQB1, HNRNPA1, HCCS, KRAS, MAPT, COX3, COX2, COX1, MEF2C, COL1A1, BDNF, APOE, USH1G, EBPL, SLC25A4, PPP1R2C, C20orf181, SLC25A6, AR, IMPACT, PTCRA, IS1, DTNBP1, MSLN, CGA, SGSM3, CNKSR2, CPM, DNMT3B, TP63, ZMYM2, ELK3, F11, GJB2, S100A4, LCN1, LEP, MBNL1, AOS
    • Aphasia Mayo_clinic
      Overview Aphasia is a disorder that affects how you communicate. It can impact your speech, as well as the way you write and understand both spoken and written language. Aphasia usually happens suddenly after a stroke or a head injury. But it can also come on gradually from a slow-growing brain tumor or a disease that causes progressive, permanent damage (degenerative). The severity of aphasia depends on a number of things, including the cause and the extent of the brain damage. The main treatment for aphasia involves treating the condition that causes it, as well as speech and language therapy. The person with aphasia relearns and practices language skills and learns to use other ways to communicate.
  • Asplenia Wikipedia
    PMID 10997879 . ^ Halfdanarson, T. R.; Litzow, M. R.; Murray, J. A. (15 January 2007). ... S2CID 22741973 . ^ Pratl B, Benesch M, Lackner H, et al. (2007). "Partial splenic embolization in children with hereditary spherocytosis". ... Journal of Pediatric Surgery . 33 (6): 826–9. doi : 10.1016/S0022-3468(98)90651-0 . PMID 9660206 . ^ a b Brigden, M. L. (2001). "Detection, education and management of the asplenic or hyposplenic patient". ... "Chapter 7 : Immunisation of individuals with underlying medical conditions" . In Editors Salisbury D, Ramsay M, Noakes K (eds.). Immunisation Against Infectious Disease 2006 (PDF) .
    RPSA, AIRE, CFAP300, TMEM107, RSPH3, DNAL1, TTC25, B9D2, CEP290, TCTN2, CSPP1, TMEM231, DNAI2, CC2D2A, RPGRIP1, CFAP298, DNAAF2, CEP55, ARMC4, ORAI1, CCDC65, DNAAF5, RSPH9, DNAJB13, DNAAF3, RSPH4A, MCIDAS, CCDC39, TCTEX1D2, GAS2L2, DNAAF4, RSPH1, PIH1D3, DNAAF1, CCDC151, LRRC56, CCDC114, DRC1, TMEM67, CCDC40, MKS1, TWIST1, OFD1, ATRX, DNAH5, FOXF1, GAS8, GDF1, GUCY2C, MYCN, RPGR, SPAG1, STIM1, HYDIN, WNT3, ZIC3, CCDC103, DNAH11, TMEM216, CCNO, RPGRIP1L, LRRC6, DNAH1, DNAI1, ZMYND10, NPHP3, ZEB2, NME8, B9D1, STK36, WDPCP, NKX2-5, ACE, HMOX1, NR5A1, HLX, HP, MPO, PBX1, ATR
  • Stargardt Disease Wikipedia
    Retrieved Jan 2012 ^ Lambertus, Stanley; Lindner, Moritz; Bax, Nathalie M.; Mauschitz, Matthias M.; Nadal, Jennifer; Schmid, Matthias; Schmitz-Valckenberg, Steffen; den Hollander, Anneke I.; Weber, Bernhard H. ... term=SAR422459&rank=1 ^ Schwartz, SD; Regillo, CD; Lam, BL; Eliott, D; Rosenfeld, PJ; Gregori, NZ; Hubschman, JP; Davis, JL; Heilwell, G; Spirn, M; Maguire, J; Gay, R; Bateman, J; Ostrick, RM; Morris, D; Vincent, M; Anglade, E; Del Priore, LV; Lanza, R (7 February 2015).
    ABCA4, ELOVL4, CNGB3, PRPH2, PROM1, ITIH2, ABCG2, PLXNA2, GNAT2, TST, RPGR, ERG, CRB1, AKR1A1, NR2E3, RPE, USP9X, PNPLA6, ZAP70, BEST1, CILK1, SULT2A1, RDH8, SENP7, NYX, AAVS1, RBP4, RHO, PRPH, AMD1, AMD1P2, CFTR, CLN3, CRX, DPYD, DPYS, FANCF, GNAZ, GRM6, GUCY2D, CFH, MPO, PDE6B, PPT1, PCARE
    • Stargardt Disease 3 Omim
      A number sign (#) is used with this entry because of evidence that Stargardt disease-3 (STGD3) is caused by heterozygous mutation in the ELOVL4 gene (605512) on chromosome 6q14. For a general phenotypic description and a discussion of genetic heterogeneity of Stargardt disease, see 248200. Clinical Features In most instances macular dystrophy with flecks (Stargardt disease) shows an autosomal recessive pattern of inheritance; see 248200. Cibis et al. (1980) reported an extensive family with an apparently dominant form of macular dystrophy with flecks. Some patients had no flecks. The authors thought there was insufficient evidence to place the disorder in the category of 'cone dystrophy,' and stated that 'cone dystrophy is never associated with the fundus flavimaculatus flecks synonymous with Stargardt's disease.'
    • Stargardt Disease 1 Omim
      A number sign (#) is used with this entry because of evidence that Stargardt disease-1 (STGD1) is caused by homozygous or compound heterozygous mutation in the ABCA4 gene (601691) on chromosome 1p22. Stargardt disease-3 (STGD3; 600110) is caused by mutation in the ELOVL4 gene (605512) on chromosome 6q14, and Stargardt disease-4 is caused by mutation in the PROM1 gene (604365) on chromosome 4. A locus for Stargardt disease mapped to chromosome 13q34 and designated STGD2 was found to be in error; the disorder in the family in which the linkage was made was correctly mapped to chromosome 6q14 (STGD3). One patient with a diagnosis of juvenile macular degeneration was found to be compound heterozygous for mutations in the CNGB3 gene (605080) on chromosome 8q. Fundus flavimaculatus (FFM) is an allelic subtype of Stargardt disease that has been associated with mutation in the ABCA4 gene and the PRPH2 gene (179605).
    • Stargardt Disease 4 Omim
      A number sign (#) is used with this entry because Stargardt disease-4 (STGD4) is caused by heterozygous mutation in the prominin-1 gene (PROM1; 604365). For a general phenotypic description and a discussion of genetic heterogeneity of Stargardt disease, see STGD1 (248200). Description Stargardt disease is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait (see 248200), but STGD4 is inherited as an autosomal domiant trait (summary by Kniazeva et al., 1999). Clinical Features Kniazeva et al. (1999) studied 26 members of a 3-generation Caribbean kindred with an autosomal dominant Stargardt-like phenotype.
    • Stargardt Disease Orphanet
      A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. Epidemiology The prevalence is estimated at 1/8,000 - 1/10,000. Both sexes are equally affected. Clinical description The disease typically presents within the first two decades of life, even though symptoms can also appear during adulthood and as late as the seventh decade. Although disease progression and severity varies widely, Stargardt disease (STGD1) is usually characterized by a progressive loss of central vision causing blurry vision and, occasionally, an increasing difficulty to adapt in the dark. Peripheral vision is usually normal. Most affected individuals also have impaired color vision.
    • Stargardt Disease Gard
      Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment ( lipofuscin ) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time.
  • Muscle Dysmorphia Wikipedia
    . ^ Harrison G Pope Jr, Katharine A Phillips & Roberto Olivardia, The Adonis Complex: The Secret Crisis of Male Body Obsession (New York: Free Press , 2000) pp 156 , 160,197. ^ a b c d e f g h i j k l m n o p q r s t u Tod D, Edwards C & Cranswick I (2016), "Muscle dysmorphia: Current insights" , Psychology Research and Behavior Management 9 :179–188. ^ McCabe MP & Ricciardelli LA (2004), "Body image dissatisfaction among males across the lifespan: A review of past literature", Journal of Psychosomatic Research 56 (6):675–685. ^ a b American Psychiatric Association, "Body dysmorphic disorder" , Diagnostic and Statistical Manual of Mental Disorders , Fifth Edition (Arlington, VA: American Psychiatric Association, 2013). ^ a b c d e Pope HG Jr, Gruber AJ, Choi P, Olivardia R & Phillips KA (1997), "Muscle dysmorphia: An underrecognized form of body dysmorphic disorder", Psychosomatics: Journal of Consultation and Liaison Psychiatry 38 (6):548–557. ^ Mosley PE (2009). ... , International Journal of Eating Disorders 31 (3):334–338. ^ Daniel S & Bridges SK (2010)m The drive for muscularity in men: Media influences and objectification theory, Body Image 7 (1):32–38. ^ Parent MC & Moradi B (2011), "His biceps become him: A test of objectification theory's application to drive for muscularity and propensity for steroid use in college men", Journal of Counseling Psychology 58 (2):246–256. ^ Davis C & Cowles M (1991), "Body image and exercise: A study of relationships and comparisons between physically active men and women", Sex Roles 25 (1–2):33–44. ^ Chung B (2001), "Muscle dysmorphia: A critical review of the proposed criteria" , Perspect Biol Med 44 (4):565–574. ^ a b dos Santos Filho CA, Tirico PP, Stefano SC, Touyz SW & Claudino AM (2016), "Systematic review of the diagnostic category muscle dysmorphia", Australian and New Zealand Journal of Psychiatry 50 (4):322–333. ^ Ung EK, Fones CS, & Ang AW (2000), Muscle dysmorphia in a young Chinese male, Annals of the Academy of Medicine (Singapore) 29 (1):135–137. ^ Soler PT, Fernandes HM, Damasceno VO, et al. (2013), "Vigorexy and levels of exercise dependence in gym goers and bodybuilders", Revista Brasileira de Medicina do Esporte 19 (5):343–348. ^ Rutsztein G, Casguet A, Leonardelli E, López P, Macchi M, Marola ME & Redondo G (2004), "Imagen corporal en hombres y su relación con la dismorfia muscular", Revista Argentina De Clínica Psicológica 13 (2):119–131. ^ a b Behar R & Molinari D (2010), "Muscle dysmorphia, body image and eating behaviors in two male populations", Revista Médica de Chile 138 (11):1386–1394. ^ Yang CJ, Gray P, & Pope HG Jr, (2005), "Male body image in Taiwan versus the west: Yanggang Ahiqi meets the Adonis complex", The American Journal of Psychiatry 162 (2):263–269. ^ a b Pope HG, Katz DL & Hudson JI (1993), "Anorexia nervosa and 'reverse anorexia' among 108 male bodybuilders", Comprehensive Psychiatry 34 (6):406–409. ^ a b Griffiths S, Mond JM, Murray SB & Touyz S (2015), "Positive beliefs about anorexia nervosa and muscle dysmorphia are associated with eating disorder symptomatology", Australian and New Zealand Journal of Psychiatry 49 (9):812–820. ^ a b c Murray SB & Touyz SW (2013), "Muscle dysmorphia: Towards a diagnostic consensus", Australian and New Zealand Journal of Psychiatry 47 (3):206–207. ^ a b Russell J (2013), Commentary on: "Muscle Dysmorphia: Towards a diagnostic consensus".
  • Eosinophilic Granulomatosis With Polyangiitis Wikipedia
    His treatment required the removal of 5 m (15 ft) of necrotized small intestine (about 75%), leaving him on a permanently restricted diet. [22] Umaru Musa Yar'Adua , the president of Nigeria from 2007 to 2010, reportedly had EGPA and died in office of complications of the disease. [23] DJ and author Charlie Gillett was diagnosed with EGPA in 2006; he died four years later. [24] Japanese ski jumper Taku Takeuchi , who won the bronze medal in the team competition, has the disease and competed at the Sochi Olympics less than a month after being released from hospital treatment. [25] New Zealand reporter and television presenter Toni Street was diagnosed with the condition in 2015. [26] [27] Street has had health problems for several years, including removal of her gallbladder four months prior. [28] Professional basketball player Willie Naulls died on 22 November 2018 in Laguna Niguel, California , from respiratory failure due to EGPA, [29] which he had been battling for eight years. [30] References [ edit ] ^ a b c d e f g h "Churg Strauss Syndrome" . ... PMID 12422002 . ^ a b c Churg & Thurlbeck 1995 , p. 425. ^ Rich RR, Fleisher, Thomas A., Shearer, William T., Schroeder, Harry, Frew, Anthony J., Weyand, Cornelia M. (2012). Clinical Immunology: Principles and Practice . ... S2CID 53213576 . ^ a b c d e f Churg & Thurlbeck 1995 , p. 426. ^ Rich et al. 2012 , p. 701. ^ https://www.mayoclinic.org/diseases-conditions/churg-strauss-syndrome/symptoms-causes/syc-20353760#:~:text=Churg%2DStrauss%20syndrome%20is%20a,sign%20of%20Churg%2DStrauss%20syndrome ^ Guillevin L, Lhote F, Gayraud M, Cohen P, Jarrousse B, Lortholary O, et al. ... Further reading [ edit ] Adu D, Emery P, Madaio M (2012). Rheumatology and the Kidney (2, illustrated ed.).
    WG, MPO, PRTN3, IL5, HLA-DRB4, TRBV20OR9-2, RNASE3, HLA-DRB1, TLR2, IL33, TSLP, IL25, MYDGF, CMAS, PTPN22, GCA, PTGDR2, POSTN, CCL26, TNFRSF10C, VCAM1, TNF, THBD, GYPA, FASLG, TRB, FAS, BCHE, PREP, DDR1, MMP9, MMP2, LEPR, LEP, ITGB2, IL10, IL5RA, ACR
    • Churg-Strauss Syndrome Mayo_clinic
      Overview Churg-Strauss syndrome is a disorder marked by blood vessel inflammation. This inflammation can restrict blood flow to organs and tissues, sometimes permanently damaging them. This condition is also known as eosinophilic granulomatosis with polyangiitis (EGPA). Adult-onset asthma is the most common sign of Churg-Strauss syndrome. The disorder can also cause other problems, such as nasal allergies, sinus problems, rash, gastrointestinal bleeding, and pain and numbness in your hands and feet.
    • Eosinophilic Granulomatosis With Polyangiitis Orphanet
      A rare systemic vasculitis of small vessels characterized by asthma, blood and tissue eosinophilia and vasculitis manifestations. Epidemiology The prevalence ranges from 1/70,000-100,000 in Europe. Clinical description Onset of eosinophilic granulomatosis with polyangiitis (EGPA) usually occurs in adulthood but may occur anywhere between 15 and 70 years of age. EGPA may involve multiple organ systems. The onset of EGPA is often associated, in patients with preexisting asthma, with worsening of the asthma. Eosinophilic asthma and angiitis are the two hallmarks of the disease. EGPA has been divided into three distinct phases, which may or may not be sequential.
    • Eosinophilic Granulomatosis With Polyangiitis Gard
      Eosinophilic granulomatosis with polyangiitis (Churg Strauss syndrome) is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels ( vasculitis ). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin, heart and nervous system. The exact cause of eosinophilic granulomatosis with polyangiitis is unknown, but it is thought to be an autoimmune disorder . Treatment may involve the use of glucocorticoids (steroids) and/or other immunosuppressive therapies. As of December 2017, mepolizumab (Nucala) became the first therapy approved specifically to treat eosinophilic granulomatosis with polyangiitis.
  • Monomelic Amyotrophy Wikipedia
    "Progressive Muscular Atrophy" . In Dimachkie, Mazen M.; Barohn, Richard J. (eds.). Motor Neuron Disease, An Issue of Neurologic Clinics . ... PMID 22566723 . ^ Polo, A; Curro' Dossi, M; Fiaschi, A; Zanette, GP; Rizzuto, N (May 2003). ... PMID 10822430 . ^ a b Nalini, A; Gourie-Devi, M; Thennarasu, K; Ramalingaiah, AH (September 2014). ... Journal of Neurosurgery: Spine . 20 (2): 191–5. doi : 10.3171/2013.10.SPINE13508 . PMID 24286527 . ^ Ghadiri-Sani, M; Huda, S; Larner, AJ (December 2014).
    CEP126, CPLANE1, SMN1, SMN2, GARS1, DNAJB2, STMN1, CCL2, CCL5, CCL11, SNRPN, SOD1, UCN, SNURF, AIFM1
    • Amyotrophy, Monomelic Omim
      Description Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression (Nalini et al., 2004; Misra et al., 2005). Clinical Features Hirayama et al. (1959) first described juvenile muscular atrophy of an upper extremity in Japanese patients. Hirayama (1972) reported 38 patients with juvenile nonprogressive muscular atrophy confined to the hand and forearm. Gucuyener et al. (1991) described a brother and sister, 6 and 8 years of age, respectively, with proximal muscle weakness confined to 1 arm.
    • Monomelic Amyotrophy Orphanet
      Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms. Epidemiology The prevalence is unknown. It is seen mainly in Asian countries (particularly in Japan and India) with only a very few cases reported in Europe and the United States. A nation-wide survey conducted from 1996 to 1998 in Japan found 333 identified cases with the estimated prevalence being approximately 1/33, 300. Clinical description MA is seen more frequently in males (male to female ratio of 20:1) with an age of onset in the second to third decade of life (ages 14-25). Muscle weakness and wasting begins in the hand or forearm on one side.
    • Monomelic Amyotrophy Gard
      Monomelic amyotrophy (MMA) is a rare disease that causes muscle weakness in the upper extremities. MMA affects the lower motor neurons. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement ( skeletal muscles ). Specifically, monomelic amyotrophy causes weakness and loss of muscle mass in the arms and fingers. Symptoms of the disease typically begin between the ages of 14-25 years-old. The disease is most common in Asia, especially in Japan and India. Males are more likely to develop the disease than females.
  • Puberphonia Wikipedia
    This can be done by yawning and subsequently sighing, exaggerated chewing while speaking, and speaking or singing the 'm' sound. Lowering of larynx to appropriate position : The larynx is lowered by the patient by putting pressure on the Adam's apple. ... ISBN 9781609138745 . OCLC 660546194 . ^ a b c Dagli, M; Sati, I; Acar, A; Stone, RE; Dursun, G; Eryilmaz, A (2008). ... Principles of Voice Production, Prentice Hall (currently published by NCVS.org) (pp. 188), ISBN 978-0-13-717893-3 . ^ a b c Aronson, Arnold Elvin; Bless, Diane M. (2009). Clinical Voice Disorders . ^ The management of voice disorders . Morrison, M. D. (Murray D.) (1st ed.). London: Chapman & Hall Medical. 1994.
  • Erythema Nodosum Wikipedia
    ISBN 978-1-4160-2999-1 . [ page needed ] ^ a b William D. James; Timothy G. Berger; Dirk M. Elston (2011). Andrews' Diseases of the skin : clinical dermatology (11th ed.). ... ISBN 978-1-56053-203-3 . ^ Dr Kevin McCarthy, Cork, Ireland or DIPOUT: Drugs (e.g. sulfonamides), Infections (e.g. strep), Pregnancy, OCP, Ulcerative colitis, TB [ full citation needed ] ^ Nguyen, Geoffrey C.; Torres, Esther A.; Regueiro, Miguel; Bromfield, Gillian; Bitton, Alain; Stempak, Joanne; Dassopoulos, Themistocles; Schumm, Philip; Gregory, Federico J.; Griffiths, Anne M.; Hanauer, Stephen B.; Hanson, Jennifer; Harris, Mary L.; Kane, Sunanda V.; Orkwis, Heather Kiraly; Lahaie, Raymond; Oliva-Hemker, Maria; Pare, Pierre; Wild, Gary E.; Rioux, John D.; Yang, Huiying; Duerr, Richard H.; Cho, Judy H.; Steinhart, A. ... PMID 16696785 . ^ García-Porrúa, Carlos; González-Gay, Miguel A.; Vázquez-Caruncho, Manuel; López-Lazaro, Luis; Lueiro, Mercedes; Fernández, Maria L.; Alvarez-Ferreira, Javier; Pujol, Ramón M. (2000). "Erythema nodosum: Etiologic and predictive factors in a defined population" . ... PMID 19588412 . ^ Subacute Nodular Migratory Panniculitis (Vilanova Disease) at eMedicine ^ Mascaró, J. M. (1978). "In memoriam Joaquin Piñol Aguadé, 1918--1977".
    HLA-DRB1, XIAP, NOD2, RPSAP35, PSMB8, ADA2, BTNL2, TNF, HLA-B, TBC1D9, VDR, USO1, RBM45, MAGI1, CLCA2, SOCS5, NXF1, SEC14L2, EIM, SMUG1, ACAD8, GPR162, TGFB1, IL22, IL23A, TUBA1C, CD207, REG1A, SELE, IL10, CDKN2A, CDKN2D, ESR1, F9, FLNB, IL1B, IL2, IL4, CXCL8, INSRR, BRAF, ITGAL, ITGB3, LTA, LY75, MIF, MMP2, NOS3, ABCB1, PTGER4, H3P13
  • Hemifacial Spasm Wikipedia
    Retrieved January 3, 2019 . ^ a b c Jannetta, PJ; Abbasy M; Maroon JC; Ramos FM; Albin MS. (1977). ... PMID 12036693 . ^ Caces, F; Chays A; Locatelli P; Bruzzo M; Epron JP; Fiacre E; Magnan J. (1996). ... PMID 3352885 . ^ a b Costa, J.; Espírito-Santo, C.; Borges, A.; Ferreira, J.J.; Coelho, M.; Moore, P.; Sampaio, C. (2005-01-25). ... PMID 2241620 . ^ Colosimo, C; Bologna M; Lamberti S (2006). "A comparative study of primary and secondary hemifacial spasm" .
    NF2, PDGFB, SMARCB1, SUFU, INPP5E, COX8A, GPR182, ANTXR2
    • Hemifacial Spasm Mayo_clinic
      Overview Hemifacial spasm is a nervous system condition in which the muscles on one side of the face twitch. The cause of hemifacial spasm is most often a blood vessel touching or pulsing against a facial nerve. A facial nerve injury or a tumor also can cause it. Sometimes there is no known cause. Symptoms Common symptoms of hemifacial spasm include jerking of muscles in the face that are most often: On one side of the face. Not controllable. Painless. These muscle movements, also called contractions, often start in the eyelid.
  • Cerebellar Abiotrophy Wikipedia
    .; Famula, Thomas R.; Murray, James D.; Penedo, M. Cecilia T. (February 2011). "Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH" . Genomics . 97 (2): 121–129. doi : 10.1016/j.ygeno.2010.11.006 . PMID 21126570 . ^ a b Berry M, Blas-Machado U (2003). "Cerebellar abiotrophy in a miniature schnauzer" . ... DeBowes RM, Leipold HW, Turner-Beatty M (August 1987). "Cerebellar abiotrophy". ... Veterinary Record . 93 (3): 62–66. doi : 10.1136/vr.93.3.62 . PMID 4748678 . Penedo, M. Cecilia T. and Leah Brault. "Progress Toward Identifying the Gene Responsible for Equine Cerebellar Abiotrophy (CA)."
  • Primary Immunodeficiency Wikipedia
    .; Al-Herz, Waleed; Bousfiha, Aziz; Chatila, Talal; Cunningham-Rundles, Charlotte; Etzioni, Amos; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D. ... PMID 18545252 . ^ Naik, S; Nicholas, S; Martinez, C; Leen, A; Hanley, P; Gottschalk, S; Rooney, C; Hanson, I; Krance, R; Shpall, E; Cruz, C; Amrolia, P; Lucchini, G; Bunin, N; Heimall, J; Klein, O; Gennery, A; Slatter, M; Vickers, M; Orange, J; Heslop, H; Bollard, C; Keller, M (24 February 2016).
    DNMT3B, ATM, CD3E, EPG5, FCN3, CD36, ZAP70, C4A, C9, C8B, C8A, C5, C3, CHD7, MAGT1, MYSM1, C1QB, CFH, BLM, CACNA1C, NBAS, CFD, RASGRP1, LEPR, RAG1, RAG2, CD19, CD40LG, TERT, PIK3CD, GATA2, MYC, MAPK1, CTLA4, STAT1, BTK, LRBA, CD28, WAS, TGFB1, CAV1, CYBB, XIAP, MS4A1, ORAI1, SH2D1A, IL21, ACTB, NFKB2, IRF7, IKBKG, LAMTOR2, PGM3, CD40, IL2RA, AICDA, BCL10, PPARG, MALT1, NHEJ1, SP110, IRF8, RAB27A, RAC2, CARD11, CD247, CTPS1, STIM1, DCTN4, TFRC, IL12RB1, POMP, TNFRSF13B, IRAK4, LYST, MYD88, TNFRSF4, XRCC4, ICOS, TYK2, BCR, IKBKB, CORO1A, IL2RB, PIK3R1, RNF168, HBB, FOXN1, CXCR4, MMUT, CUL4B, MYH7, FCGR3A, NSD2, TTC37, TNFSF12, DOCK2, AGPAT2, HYOU1, IKZF1, LETM1, DKC1, MEIS2, ATN1, AP3D1, ZBTB24, WIPF1, ISG15, LCK, USP8, UNC119, WHCR, IFNGR2, MYOC, IGLL1, STX1A, STK4, CYBA, IL10, PKP1, IL2RG, IL2, SKIV2L, VEGFA, S100B, RREB1, POLE, IGHM, PRPS1, PRKCD, IFNG, TBX1, IL12B, GP1BB, TCF3, UROS, UNG, UFD1, ITIH4, FOS, NCF2, HIRA, TP53, TNFRSF1B, NFE2L2, IFNGR1, NFKB1, TNF, GATA1, PARN, H3P19, SEC24C, CD34, CD79A, JMJD1C, CAVIN1, IRF2BP2, CD3G, CD9, IL21R, ERVW-1, CD79B, BSCL2, CD81, CDC42, CFTR, CHD1, BLNK, NCF1, CCR5, CD3D, MBTPS2, RTEL1, ADA2, ARVCF, ATRX, SHANK3, ACD, CARD9, CDH23, ERVK-6, COG6, LRRC8A, SLC46A1, TNFRSF13C, ANTXR2, NRSN1, FGFRL1, C11orf65, LAT, LMNB2, ADA, COMT, CPLX1, CRKL, CLCA4, SIK3, MYOCOS, TINF2, SIN3A, CTBP1, TMED2, AGL, CR2, CHP1, TPPP, ERVK-20, TAT, CD38, ERVK-32, DMD, IL4, AGRP, PROM1, ARTN, CD274, BCL2, NOG, FOXP3, ERVK-18, ERBB2, STAT3, DOCK8, TRIM5, CD44, SAMHD1, ALB, IL1B, HLA-C, CCL2, PLAU, ABL1, CXCL12, HGF, IL6, IL13, PDCD1, PIK3CA, SOAT1, CSF2, APOBEC3G, PTGS2, APRT, CD68, CCL5, IL22, EPHB2, IFNA1, IFNA13, MFAP1, SOX2, CRP, SPN, DPP4, PIK3CB, PIK3CG, CCR2, PTPRC, NOTCH1, HAVCR2, AKT1, CD24, ITGB2, CXADRP1, MET, LGALS1, CXCL10, MIR34A, IL1A, IL7, IL15, JAK3, MUC1, AIRE, APOBEC3H, KRAS, CXCL8, PRKAR1A, CXADR, ARR3, SPG7, CD47, FN1, MKKS, PGLYRP1, TLR4, PDLIM7, EGFR, GH1, GLB1, NR1I3, CASR, SPP1, CD70, KRT20, SOD1, BST2, COL18A1, CCND1, TRIM13, HLA-A, CTNNB1, CSF3, SOCS3, POU5F1P4, TNFSF13B, KMT2D, CDR3, IGHV3-75, TNFSF10, ABCG2, LIG1, MBL2, MMP13, KMT2A, CIITA, EPCAM, OBP2A, RBM8A, ARL4C, MLYCD, PRKN, POU5F1P3, PNP, POU5F1, PTBP1, RMRP, ACKR3, PLEK, GJB6, TLR9, PIN1, GDE1, IL23A, TRBV20OR9-2, TLR7, TGFBR2, TGM1, THPO, TLR3, MIR15A, DEF6, TP53BP1, TNFSF4, PRKDC, NT5E, NPM1, LDLR, ABCA1, ALK, HLA-B, FGF2, CD69, IL16, AR, GATA3, NR0B1, ICAM1, HLA-DRB1, ANOS1, JAK1, TNFRSF17, IL17A, ITK, HMOX1, IGHG3, BCL6, FLT3, FLT3LG, ITGAL, BCL2L1, ENPEP, HP, ERBB3, CYP2B6, FCN2, IL3, CLU, IGF1, IL4R, HIF1A, LAG3, CCR3, KIF22, F3, BRCA1, EGF, GJA1, LAMC2, KDR, APCS, FASN, DUSP5, KRT19, CEACAM5, TNFRSF8, APOBEC3C, LAMP3, CD14, PDCD4, CD58, CD33, DLL1, CHEK1, SETD2, CD207, CHUK, ERO1A, CD8A, CDH4, TMED7, STMN1, EGFL7, CD4, ROBO4, DLL4, ERCC6L, ESRP1, ALKBH5, CASZ1, MKS1, ZNF654, LARP6, AP1AR, HES6, GPRC5D, C3AR1, NLRP2, POLR3E, CALR, CASP6, CASP8, VTA1, LEF1, CD1C, CCNT1, CCND2, DCDC2, HSD17B7, CBS, IL17D, CBFB, RUNX3, WWOX, RUNX1, RUNX2, BCL11A, CCR6, RASGRP3, ACAD8, HSPH1, DCTN6, NFAT5, GIPC1, NES, KDM5B, CCR9, CX3CR1, CUX1, AHSA1, FRS2, HPSE, RUVBL2, LILRB1, FGL2, PPARGC1A, CTSB, KHDRBS1, TXNRD2, CCR7, CPQ, RABEPK, EFS, LANCL1, DCC, TLR6, KLF2, NDRG1, IFITM3, CXCL13, MERTK, DAP, IPO7, ZNRD2, GLRX3, HTATIP2, CYP21A1P, APOBEC2, CCN2, EBNA1BP2, PDSS1, SMCHD1, CRABP2, SIRT1, COX8A, CRB1, COMP, DDX58, NUP62, IL24, TDP1, BACE2, RNF19A, COL11A2, LTB4R, POLDIP2, CMKLR1, MAN2B2, CLEC16A, MCF2L, ACSBG1, CSF1R, CD160, MAPK14, FSTL1, PSIP1, AKAP13, RNF139, CRYGC, VPS45, CRK, NLRP1, KLRK1, NT5C2, ACIN1, TNIK, HHAT, SALL4, GPRC5C, MIR10A, MIR142, MIR143, MIR150, MIR152, MIR155, ALOX5, MIR182, MIR197, MIR206, MIR21, MIR210, MIR29B1, MIR29B2, MIR302A, LHX8, MIR141, MIRLET7I, MUC20, LINC01194, CT83, ANGPT1, IL27, IFNL3, CLEC9A, AMD1P2, CXCL17, ARMH1, CPP, IRGM, PWAR4, TICAM2, AMD1, CCL4L1, LIN28B, EIF2AK4, MIAT, CALHM6, MIR526B, PARP1, ERVK-22, ADORA2A, ERVK-11, CCR5AS, UPK3B, OLA1P2, RN7SL263P, MTCO2P12, ACVR2B, LOC110806263, ACVR1B, LINC02605, H3P23, H3P28, ERVK-12, ERVK-2, COMMD3-BMI1, POTEF, ALDH1A1, AK2, APLNR, H3P37, MIR657, MIR660, AGT, KLRC4-KLRK1, HOTAIR, GRK2, AD12, TMED7-TICAM2, MICA, RPL17-C18orf32, PRSS55, CRYGEP, MESP1, BMP7, HAMP, PTBP2, BMP2, BMI1, IGAN1, CFB, BDNF, NOD2, ABCG4, ROBO3, BCL11B, RAPH1, MUL1, VTCN1, NANOG, ANKRD36B, MRTFA, APOBEC3F, BMPR1B, CMAS, NSFL1C, MYDGF, PDGFC, BSG, METTL3, CTPS2, RETN, BRAF, AKR1B10, PDXP, DLD, TTC7A, MAVS, MTUS1, SCD5, FBXO11, PDGFD, ADGRB1, NLRP3, APOA1, BIRC3, RBM45, DCBLD2, APOBEC3D, APC, SIRPA, CARMIL2, PRUNE2, CBLL2, APBB1, ANXA6, ANXA1, DEFT1P, APOE, CDCA5, ORAI3, SPZ1, ATF4, ADAMTS12, SLC4A9, FERMT3, ART1, ARSA, RHOH, G6PC3, AQP3, UBASH3B, FAS, KLK3, TSLP, ESAM, MSLN, EDA, EBI3, HSPA4, IGFALS, IFNB1, MAPK8, IFI27, PSMB6, PSMD7, PSMD9, IDH1, PTEN, PTH, PTGS1, ICAM3, PTPN1, PTX3, RAD1, PRKCB, IGFBP2, PRF1, PLG, PIP, PITX1, PITX2, IL3RA, PLD1, PLEC, IL1RN, PPT1, PLK1, PML, RBPJ, PPARA, IGFBP7, PPP2R1A, RAB6A, RAC1, CXCR1, HOXD13, SDC1, HLA-DQB1, SELE, SFTPB, SGCB, ST6GAL1, ST8SIA1, SLC1A2, SLC1A3, SLC3A2, SLC11A1, SLC22A3, SNCA, FSCN1, HBG2, XCL1, HLA-DQB2, CCL4, RBP4, HOXB4, RARA, PLAAT4, RASGRF1, KDM5A, RBP2, HOXA13, CLEC11A, HOXA9, BRD2, RPL17, RPS19, HMGA1, SALL2, IL5, IL9, GZMM, KCNH2, MLLT1, MMP1, MMP2, MMP7, MMP9, KCNMA1, MNAT1, MOV10, MPO, MRC1, CITED1, MSI1, MST1, MST1R, COX2, CD99, KIR2DL2, KIR3DL1, LOX, RPSA, LAMP1, LGALS3, LAMB3, LMNA, LMO2, LRP2, KLRD1, LY6E, MXD1, SMAD7, KRT5, MCL1, MECP2, MTHFD1, MYCL, CXCR2, IVL, OSM, PCSK6, PAEP, SERPINE1, PAK2, TNFRSF9, PAWR, PAX5, PAX6, PDGFB, PECAM1, IL12A, ABCB1, SERPINA1, IL10RA, OPRM1, ROR1, IL18, NFE2, ITPR1, NAP1L1, NBN, ITGB7, DRG1, NF2, ITGAM, NRAS, ISG20, NGFR, IRF3, CCN3, ING1, IDO1, HBG1, SPINK1, ARFRP1, EIF4EBP1, IQGAP1, NRP1, CFLAR, CDK5R1, CDC123, SQSTM1, MCM3AP, EPO, MBD2, EPHB6, F2RL3, EMP1, PKD2L1, ELN, ANGPTL1, IL18R1, TNFRSF10D, FADD, EIF3D, EWSR1, HAT1, APOL1, ETV4, LGR5, TP63, VAMP8, ADAM23, BECN1, MBTPS1, RIPK1, TNFSF13, ETS1, EREG, PIGQ, EIF4A2, EZH2, INA, EDN1, LEP, HDAC9, DAZAP2, SPATA2, E2F3, GAB2, DUT, BCL2L11, NR1H3, TSPAN32, ACTR1A, DSG3, DNMT3A, OPTN, TCL1B, ABCG1, NCOR2, GRAP2, ARHGEF2, EIF4A1, EGR1, CYTH1, CD83, CD163, SNRNP40, APOBEC3B, EGI, HAND2, ATG5, CXCL14, CCL4L2, SPAG6, PPM1D, F2R, GUCY2C, TNFRSF1A, ZEB1, GNAO1, GPC3, NR2F2, GJB2, CBLIF, GEM, THBS1, GCHFR, THRB, THY1, TIMP1, TIMP2, TLR2, GCG, GOT2, GPI, GRM1, GRP, GTF2H1, SRY, GSTT1, GSTM1, STAT5B, GSS, CXCL1, TARBP2, SULT1A1, SYN1, TAC1, ADAM17, TAP2, TAPBP, LRRC32, GAA, MAD1L1, TNXB, FAT1, YY1, ZFP36, CNBP, FABP1, AIMP2, MLLT10, F9, IV, TCL1A, SLC7A5, F8, SYMPK, MIA, USP9X, XK, FHIT, FHL2, TSC2, G6PD, FSHR, TP53BP2, TPMT, CRISP2, TSC1, MTOR, BEST1, FRA18B, FOLR1, TXN, FLT4, FLT1, FOXO1, REG1A
  • Möbius Syndrome Wikipedia
    In the BBC TV series Face , Loraine Deveney, a Möbius syndrome patient, was portrayed as a successful example of "smile surgery" performed by R. M. Zuker, M.D. The German TV series Dr. ... Münchener Medizinische Wochenschrift . 35 : 91–4. ^ Al Kaissi A, Grill F, Safi H, Ben Ghachem M, Ben Chehida F, Klaushofer K (2007). ... PMC 1016909 . PMID 1870098 . ^ Nishikawa M, Ichiyama T, Hayashi T, Furukawa S (February 1997). ... NORD (National Organization for Rare Disorders) . Retrieved 2018-03-16 . ^ Kuklík M (2000). "Poland-Möbius syndrome and disruption spectrum affecting the face and extremities: a review paper and presentation of five cases".
    REV3L, PLXND1
    • Moebius Syndrome Omim
      Description The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003). The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic.
    • Moebius Syndrome Gard
      Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems; dental abnormalities; bone abnormalities in the hands and feet; and/or speech difficulties. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. Moebius syndrome is caused by the absence or underdevelopment of the 6th and 7th cranial nerves , which control eye movement and facial expression. Other cranial nerves may also be affected. There is no cure for Moebius syndrome, but proper care and treatment give many individuals a normal life expectancy.
  • Adrenocortical Carcinoma Wikipedia
    . ^ a b Assié G, Letouzé E, Fassnacht M, Jouinot A, Luscap W, Barreau O, et al. ... ISBN 978-0-07-142280-2 . ^ Terzolo M, Angeli A, Fassnacht M, Daffara F, Tauchmanova L, Conton PA, et al. ... PMID 22551107 . ^ a b Allolio B, Fassnacht M (June 2006). "Clinical review: Adrenocortical carcinoma: clinical update" .
    TP53, IGF2, CTNNB1, MEN1, BRAF, IGF1R, EGFR, ABCB1, RRM1, CDKN2A, ZNRF3, TOP2A, DAXX, BAP1, RB1, SPARC, MED12, TERT, PRKAR1A, CDKN1C, GNAS, NRAS, APC, H19, KCNQ1OT1, CYP19A1, CDKN2C, CDKN2B, KCNQ1, CDKN1B, CDKN1A, PIK3CA, H19-ICR, H3-3A, IGF1, POMC, ESR1, NR5A1, MIR483, MC2R, EDN1, INHA, KRT5, NR0B1, ACACA, BMS1, EGF, MAPK1, TCF21, FOLH1, STAR, SLC12A7, IGFBP2, PRKACA, GATA6, AIP, PTTG1, HSP90AA1, SULT2A1, CXCL8, FSCN1, CXCR4, ARMC5, TBC1D9, CD274, RARRES2, STMN1, CORO7, MSH2, PDE11A, DLK1, LOC110806263, ERCC1, CYP2B6, JAG1, CYP11B2, ENPEP, EPHB2, ESR2, ADM, EZH2, ATR, PMPCA, XIAP, MATR3, POLDIP2, RNF19A, AR, MELK, NNT, ZEB2, FGF19, CITED2, ALB, AHSA1, ANGPT1, NES, PCLAF, UTS2, AKR1B1, RASSF1, DICER1, ACOT7, FGFR2, MED27, CHST3, AKR1C3, VIP, VSNL1, SF1, AIMP2, RASSF7, AXIN1, AXIN2, ATP2B3, GEMIN2, CYP4F2, NCOA1, FHL5, ATP1A1, SPHK1, CACNA1H, ATM, SCAF11, ATF3, SLC9A3R2, GRAP2, ABCG2, DKK3, PELP1, RMDN1, AKT1, JDP2, PCSK9, ACTG2, NPW, ACTBL2, MALAT1, MIR139, MIR184, MIR195, MIR200B, MIR205, MIR210, POTEKP, MIR431, MIR497, ACTG1, POTEM, UCA1, SYCE1L, LINC00271, ACAT1, DEL11P13, RMDN2, NLRP3, CYP2S1, MRAP2, SH3KBP1, AGTR1, VAV2, SIRT6, GDE1, NBAS, DCUN1D1, CYP2W1, RNF31, RMDN3, SYBU, DIABLO, KLHL1, ZNF410, LGR6, GAS5, NDRG4, AGT, LIN28A, PDCD1LG2, FATE1, VIM, BCL9, TYMS, SMAD4, CYP17A1, CXCL10, IRS1, KCNJ5, KRAS, CYP11B1, CYP11A1, LDLR, LEP, LHCGR, MAS1, TWIST1, CYP4B1, MCM3, MDH2, MAP3K1, MET, CYP2A6, MT3, MUTYH, NAGLU, NGF, DHCR24, IL4R, E2F1, IGF2R, FOXM1, FN1, FGFR1, MTOR, GATA3, GATA4, ESRRA, GFAP, GHRHR, GHSR, GIPR, GLB1, HLA-DRB1, HOXC4, HRAS, HSD17B4, HSPA5, HTR7, IFNB1, ENO2, ELAVL2, NOTCH1, MAPK14, NR4A2, SCARB1, CD22, SPP1, SST, CASP3, STAT3, STAT5A, STAT5B, STK11, BRCA2, SYP, TARBP2, TBX2, BMP5, BMP2, TFE3, TGFBR2, THBS1, TM7SF2, TNF, FH, CCND1, SOAT1, SNAI1, PCNA, SLC25A1, ENPP3, PGR, CRYGD, CRK, PLCB3, CPA1, PPARG, CP, ABCC2, CHGA, MAP2K6, PTK7, CDKN3, CDK6, REN, CDK4, SCN7A, SCP2, SDHB, SDHD, SGK1, SERPINA3
    • Adrenocortical Carcinoma, Hereditary Omim
      A number sign (#) is used with this entry because of evidence that one form of adrenocortical carcinoma is caused by heterozygous mutation in the TP53 gene (191170) on chromosome 17p13. Description Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome (130650) and is a component tumor in Li-Fraumeni syndrome (LFS; 151623). Inheritance Autosomal dominant inheritance of ADCC has been reported (e.g., by Longui et al., 2004). Autosomal recessive inheritance is supported by the occurrence of ADCC in sibs and in children of consanguineous parents.
    • Adrenocortical Carcinoma Orphanet
      A rare cancer that arises from the adrenal cortex. Epidemiology It represents 0.2% of childhood malignancies and has an international incidence of 1 in 2,000,000. It is more frequent in girls than in boys (ratio 1.5:1). Clinical description Adrenocortical carcinoma (ACC) occurs in childhood with a peak incidence at 3.5 years of age. Most ACCs in children and adolescents are hormone-secreting and the clinical presentation reflects the pattern of adrenocortical hormones secreted by the tumor. Signs and symptoms of virilisation are present in over 90% of cases, hypertension may also be present. Hirsutism, acne and deepening of the voice may be apparent in both sexes.
    • Adrenocortical Carcinoma Gard
      Adrenocortical carcinoma is a rare cancer affecting the outside of the adrenal glands ( adrenal cortex ). These glands are on top of each kidney and are responsible for producing certain hormones and keeping blood pressure at normal levels. Adrenocortical carcinoma is relatively frequent in children compared to many other cancers, although the cancer may also affect adults. Girls are more often affected than boys. Symptoms of adrenocortical carcinoma may include pain in the abdomen, hypertension, weight gain, frequent urination and possibly deepening of the voice. These symptoms are due to the tumors causing excess secretion of hormones from the adrenal glands.
  • Akathisia Wikipedia
    PMID 27928948 . ^ a b c d e f g h i j k l m n o p q r s t u v w Lohr, JB; Eidt, CA; Abdulrazzaq Alfaraj, A; Soliman, MA (December 2015). ... PMID 24286228 . ^ a b c d e f g h Poyurovsky M, Weizman A (June 2020). "Treatment of Antipsychotic-Induced Akathisia: Role of Serotonin 5-HT2a Receptor Antagonists". ... S2CID 40974047 . ^ Altshuler, L. L.; Pierre, J. M.; Wirshing, W. C.; Ames, D. (August 1994). ... PMID 12925718 . ^ a b c Kane, John M.; Fleischhacker, Wolfgang W.; Hansen, Lars; Perlis, Roy; Pikalov a, Andrei; Assunção-Talbott, Sheila (2009).
    ADCYAP1, CACNA1C, MAPT, RAI1, PRL, DRD2, ADORA1, ADORA2A, ADORA3, CTBP1, NQO1, DRD3, ABCB1, RGS2, ANKK1
  • Polycystic Kidney Disease Wikipedia
    PMID 25490692 . ^ a b c d e f Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A (2006). ... PMID 17434405 . S2CID 1700992 . ^ a b Simons M; Walz G (2006). "Polycystic kidney disease: cell division with a c(l)ue?" ... ISBN 9780323242875 . ^ a b c Halvorson, C. R.; Bremmer, M. S.; Jacobs, S. C. (2014-05-24). Comprehensive Clinical Nephrology: Polycystic Kidney Disease: Inheritance, pathophysiology, prognosis, and treatment - Online . ... Cite journal requires |journal= ( help ) ^ Bolignano D, Palmer SC, Ruospo M, Zoccali C, Craig JC, Strippoli GF (2015).
    PKD1, PKD2, PRKCSH, ANKS6, SEC63, NPHP3, PMM2, DNAJB11, MTOR, HDAC6, BICC1, PTGS2, LRP5, AGT, MYC, HIF1A, TNC, GPBAR1, SOD1, CDKN1A, CTSH, CTSB, LRP2, RPS6KB1, PLCG1, GNAS, SPP1, SLC34A1, EPAS1, PLA2G4A, PTGS1, BECN1, NOS3, PKHD1, ANGPT2, XYLT2, NPPB, PITX2, C9, PPARG, ATF1, BGLAP, CFB, NEK1, GLIS3, NPHP3-ACAD11, OFD1, PRKD1, IFT43, CDC73, SIX1, MKS1, MARK4, HDAC8, GP1BB, RREB1, TXNDC15, ALG9, CC2D2A, BBS10, TMEM107, PEX12, CEP290, TMEM231, WDR35, PEX5, TMEM138, EXOC3L2, DYNC2H1, SKIV2L, VHL, CPT2, GATA3, JMJD1C, ZDHHC24, HIRA, UFD1, MKKS, DZIP1L, BBS1, ARVCF, TRIP11, SEC24C, TTC37, KIAA0586, ANO5, COMT, TBX1, ETFA, ETFDH, ESCO2, EYA1, ETFB, ZNF423, GANAB, CFTR, TSC2, FGF2, TMEM67, AVP, REN, EDNRA, LCN2, INPP5E, CUX1, NEK8, PKD2L1, SCT, TBPL1, LPAR2, SSTR4, ADRA2B, IFT88, TAZ, TYRP1, STAT3, TULP3, TSC1, CXCR6, PRKD2, ADRA1A, ACKR3, GSK3B, APRT, MIR17, AVPR2, BCL2, BRS3, CASR, CDC25A, CCN2, CTNNB1, EDN1, EGF, PIK3CG, EPO, GPR42, KIAA0319, KIAA0319L, MXI1, TRPV4, PIK3CD, MFAP1, PIK3CB, JAK2, PIK3CA, DNER, BIRC6, MRGPRX1, AQP11, POSTN, OR10A4, ANO1, PKD1L3, YAP1, TMEM130, SPAG11B, MIR20A, VN1R17P, GPR166P, SPAG11A, TUBA1B, MGS, PKDREJ, LGR6, KIF3A, GPRC6A, TMEM207, BHD, FNIP1, PKD1L2, PTPN22, MRGPRX3, MRGPRX4, DNAAF1, OSR1, WWTR1, SLC9B2, OSER1, GPR151, PIP4K2C, CEMIP2, LPAR3, ZMYND10, CENPV, PHB2, CHP1, DCTN3, OXER1, RHO, OXSR1, GLA, EPHA3, EPHB2, ERBB2, FABP1, FGF7, FOS, FOSB, GH1, GLI1, EGFR, GLI2, GLI3, HBA1, HBA2, HGF, IGF1, IL6, IL13, EIF4EBP1, DYNC1H1, ELMO1, BUB1B, AGER, ALOX5, APC, AQP1, AQP2, AQP3, ARG1, B2M, DDR1, ACE, CALR, RUNX1, CCNF, CDC25C, CDK5, RCC1, ATF2, CSNK1E, IL18, ILK, JUN, HNF1B, CCL2, SELE, SP1, SSTR2, STAT5A, STAT5B, STAT6, STK11, TFF3, JUNB, TGFA, TGFB1, TNF, TRAF3, VEGFA, FZD4, PROM1, IFT140, RASGRF1, PTMAP4, PTMA, PTGER2, JUND, MIF, NEDD9, NOTCH2, NOTCH3, NPTX2, P2RX7, PAEP, PAX2, PCNA, PIGR, PKD3, PPARA, PREP, MAPK1, MAPK7, MAP2K5, TPTEP2-CSNK1E
    • Polycystic Kidney Disease Mayo_clinic
      Overview Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large. Having many cysts or large cysts can damage your kidneys. Polycystic kidney disease can also cause cysts to develop in your liver and elsewhere in your body. The disease can cause serious complications, including high blood pressure and kidney failure. PKD varies greatly in its severity, and some complications are preventable.
  • Neutral Lipid Storage Disease Wikipedia
    It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I) which is also known as Chanarin–Dorfman syndrome), which are characterized primarily by myopathy and ichthyosis , respectively. ... It has been associated genetically with mutations in the CGI58 gene, (for NLSD-I), or the ATGL gene (for NLSD-M.) [1] [2] [3] Contents 1 Cause 1.1 Genetics 2 Pathophysiology 3 Diagnosis 4 Treatment 5 Epidemiology 6 History 7 See also 8 References 9 External links Cause [ edit ] Neutral lipid storage disease is caused by the abnormal and excessive accumulation of lipids in certain bodily tissues, including the liver, the heart, and muscle. [4] Normally, these lipids are stored as lipid droplets and are normally used for metabolism, cell signaling and trafficking of vesicles. [5] Neutral lipid storage disease is a disease that is diagnosed with the simultaneous occurrence of myopathy and/or ichthyosis. ... Subtype I : Neutral Lipid Storage Disease with Myopathy (NLSD-M), is caused by a mutation in the PNPLA2 gene, which reduces the normal expression orfunction of the ATGL protein. ... It has been proposed that the assimilation, rather than degradation of triglycerides is the main factor in fat accumulation in adipose cells. [8] Patients with NLSD-M display progressive skeletal myopathy and severe cardiomyopathy in ~40% of cases. [9] The pathophysiology and mechanistic basis of myopathy arising from deficits is lipid metabolism is not yet known.
    ABHD5, PNPLA2, ANO10, TTR, LEXM, CD40LG, AADAC, LPIN2, PLIN1, S100A7, SHOX, SLC22A5, DGAT1, CIC, KDM4A, PEMT, PDGFRB, AGK, PNPLA1, MICOS10-NBL1, SERPINA1, PARN, PLIN2, CPT2, AGT, APOA1, CCND1, CD80, CD86, CDK4, CDKN2A, DCX, NBL1, ESR1, ETFA, ETFB, ETFDH, IFNG, ITGA2B, MDM2, H3P10
    • Cerebral Creatine Deficiency Wikipedia
      Cerebral creatine deficiency Other names CCD Specialty Pediatrics , medical genetics , neurology Symptoms intellectual disability, developmental delay, seziures Usual onset early childhood Causes Genetic Diagnostic method Blood, and urine tests, genetic testing , brain MRS Treatment dietary modification, creatine supplementation Prognosis variable; early treatment for AGAT and GAMT deficiency results in significantly improved outcomes Cerebral creatine deficiencies are a small group of inherited disorders that result from defects in creatine biosynthesis and utilization. Commonly affected tissues include the brain and muscles. There are three distinct CCDs. The most common is creatine transporter defect (CTD), an X-linked disorder caused by pathogenic variants in SLC6A8 . The main symptoms of CTD are intellectual disability and developmental delay, and these are caused by a lack of creatine in the brain, due to the defective transporter. There are also two enzymatic defects of creatine biosynthesis, arginine:glycine amidinotransferase deficiency (AGAT deficiency), caused by variants in GATM and guanidinoacetate methyltransferase deficiency (GAMT deficiency), caused by variants in GAMT .
    • Chanarin-Dorfman Syndrome Medlineplus
      Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts ), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome.
    • Neutral Lipid Storage Disease Orphanet
      Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished. Epidemiology The group of diseases is very rare and the prevalence is unknown (around 50 cases have been reported in medical literature, of which 3 had NLSDM) because of the vagueness of the descriptions. Clinical description In NLSDI, generalized ichthyosis occurs in 95% of cases, moderate myopathic syndrome (or abnormal serum muscle enzyme levels), intellectual deficit and moderate hepatomegaly (or functional impairment of the liver) occur in 60% of cases, ocular (cataract, retinopathy) and hearing abnormalities (deafness) occur in 40% of cases, and neuropathy and short stature occur in 20% of cases. Etiology NLSDI/Dorfman-Chanarin disease is caused by mutations in the ABHD5 gene (3p21), NLSDM by mutations in the PNPLA2/ATGL gene (localized to 11p15.5).
    • Neutral Lipid Storage Disease With Ichthyosis Orphanet
      A form of neutral lipid storage disease characterized by the accumulation of lipid vacuoles in leukocytes (so-called Jordan's anomaly seen in peripheral blood smears) and a variety of other cell types. The clinical picture consists of congenital ichthyosis of the congenital ichthyosiform erythroderma type together with variable multisystem involvement. Manifestations include hepatosplenomegaly, myopathy, intestinal disease, growth retardation, cataracts, sensorineural hearing loss, and intellectual disability, among others.
    • Chanarin-Dorfman Syndrome Omim
      A number sign (#) is used with this entry because Chanarin-Dorfman syndrome, a rare form of nonbullous congenital ichthyosiform erythroderma (NCIE; see 242300), can be caused by homozygous mutation in the CGI58 gene (ABHD5; 604780). Another form of neutral lipid storage disease without ichthyosis but with myopathy (NLSDM; 610717) is caused by mutation in the PNPLA2 gene (609059). Clinical Features In a 5-year-old girl, Angelini et al. (1980) identified a syndrome, presumably inherited as an autosomal recessive, characterized by congenital ichthyosis, hepatosplenomegaly, vacuolated granulocytes (Jordans anomaly), and myopathy. Pathologic, ultrastructural and biochemical studies showed nonlysosomal, multisystem triglyceride storage. Cultured fibroblasts showed an increased uptake but decreased oxidation of labeled oleate.
    • Chanarin-Dorfman Syndrome Gard
      Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides . These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver, cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition.
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