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Bethlem Myopathy Wikipedia

. ^ a b Jobsis GJ, Boers JM, Barth PG, de Visser M (1999). "Bethlem myopathy: a slowly-progressive congenital muscular dystrophy with contractures" . ... PMC 1736127 . PMID 16141002 . ^ a b Okada M et al (2007) Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. ... ISSN 0004-282X . ^ Norwood, Fiona L. M.; Harling, Chris; Chinnery, Patrick F.; Eagle, Michelle; Bushby, Kate; Straub, Volker (2009). ... PMID 19767415 . ^ Lampe, Anne Katrin; Flanigan, Kevin M.; Bushby, Katharine Mary; Hicks, Debbie (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.

COL6A1, COL6A3, COL6A2, COL12A1, ANO5, DMD, LMNA, CAPN3, VWF, FKRP, ADIPOQ, LAMB1, SGCG, LEP, HSPG2, DAG1, COL6A5
- Bethlem Myopathy GARD
  
  Bethlem myopathy is a rare disease affecting the skeletal muscles and connective tissue . The disease is characterized by slowly progressive muscle weakness and joint stiffness (contractures). It most often affects the fingers, wrists, elbows, and ankles. Signs and symptoms may begin before birth (with decreased fetal movements), shortly after birth (with low muscle tone or torticollis), in early childhood (with delayed motor skills, muscle weakness, and contractures), or in adulthood (with weakness, Achilles tendon, or finger contractures). Due to the disease's progression, most people with Bethlem myopathy over age 50 require mobility aids (such as a cane, crutches, or wheelchair) for outdoor mobility. Rarely, severe muscle weakness may lead to respiratory difficulties in later life.
- Bethlem Myopathy 1 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bethlem myopathy-1 (BTHLM1) is caused by heterozygous mutation in the COL6A1 gene (120220), the COL6A2 gene (120240), or the COL6A3 gene (120250). See also Ullrich congenital muscular dystrophy-1 (UCMD1; 254090), an allelic disorder that shows autosomal recessive inheritance and a more severe phenotype. Genetic Heterogeneity of Bethlem Myopathy BTHLM2 (616471) is cased by mutation in the COL12A1 gene (120320) on chromosome 6q. Nomenclature At the 229th ENMC international workshop, Straub et al. (2018) classified autosomal dominant Bethlem myopathy caused by mutation in one of the collagen VI genes as a form of limb-girdle muscular dystrophy (LGMDD5). Clinical Features Bethlem and van Wijngaarden (1976) described 3 Dutch families in which 28 patients suffered from benign myopathy with autosomal dominant inheritance.
- Collagen Vi-Related Myopathy MedlinePlus
  
  Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related myopathy, which range in severity: Bethlem myopathy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe. People with Bethlem myopathy usually have loose joints (joint laxity) and weak muscle tone (hypotonia) in infancy, but they develop contractures during childhood, typically in their fingers, wrists, elbows, and ankles. Muscle weakness can begin at any age but often appears in childhood to early adulthood.
- Bethlem Myopathy 2 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bethlem myopathy-2 (BTHLM2), also known as myopathic-type Ehlers-Danlos syndrome, is caused by heterozygous mutation in the COL12A1 gene (120320) on chromosome 6q. For a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1 (158810). Clinical Features Zou et al. (2014) reported a boy with features consistent with Bethlem myopathy. Hypotonia, proximal joint contractures, and distal myopathy were noted during his first year of life. Motor development was delayed, and he started to walk shortly before his second birthday.
- Bethlem Myopathy Orphanet
  
  Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy. Epidemiology To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity. Clinical description The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures which are sometimes suggestive of the diagnosis. Etiology Mutations in one of the three subunits of collagen VI are responsible for the disease. Molecular studies are however hampered by the size and expression pattern of the genes.
- Collagen Vi Related Muscular Dystrophy GARD
  
  Collagen type VI-related disorders are caused by alterations (mutations) of collagen genes ( COL6A1 , COL6A2 , or COL6A3 genes) and include diseases that are mild like Bethlem myopathy or more severe like the Ullrich congenital muscular dystrophy (CMD). Diagnosis depends on typical clinical features, muscle biopsy (for suspected Ullrich CMD) or skin biopsy (for suspected Bethlem myopathy) and genetic testing that shows mutations in the collagen VI genes. The treatment depends on the signs and symptoms that are present and may include physiotherapy regarding stretching exercises, splinting, and mobility aids and orthopedic surgeries.
Uterus Didelphys Wikipedia

PMID 6479426 . ^ Grimbizis, G. F.; Camus, M; Tarlatzis, BC; Bontis, JN; Devroey, P (2001). ... PMID 11284660 . ^ Madureira, A. J.; Mariz, C. M.; Bernardes, J. C.; Ramos, I. M. (2006). ... PMID 11755560 . S2CID 37650526 . ^ a b Pui, M (2004). "Imaging diagnosis of congenital uterine malformation".

GATA3, HOXA13, AXIN1, INTU, WDR60, WDR35, IFT80, DYNC2H1, WDR34
- Didelphys Uterus Orphanet
  
  A rare non-syndromic uterovaginal malformation characterized by two separate uterine cavities and cervices, due to failure of the Müllerian ducts to fuse. A longitudinal vaginal septum of variable thickness and elasticity is also present. Patients may be asymptomatic or experience dyspareunia or dysmenorrhea. There is increased frequency of endometriosis, as well as fertility and gestational issues with significantly reduced chances of seeing a pregnancy to term. The condition may be associated with renal agenesis.
Wolcott–rallison Syndrome Wikipedia

. ^ a b c d e f g h i Spehar Uroić A, Mulliqi Kotori V, Rojnić Putarek N, Kušec V, Dumić M (April 2014). "Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome". ... PMID 15772126 . ^ Senée V, Vattem KM, Delépine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, Topaloglu AK, Lathrop GM, Barrett TG, Nicolino M, Wek RC, Julier C (July 2004). ... S2CID 12244157 . ^ a b Julier C, Nicolino M (November 2010). "Wolcott-Rallison syndrome" .

EIF2AK3, ALPK3, EIF2S1, EIF2S3, INS, KCNJ11, PAX4, ABCC8, EIF2S2, PPP1R15B
- Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus OMIM
  
  A number sign (#) is used with this entry because of evidence that Wolcott-Rallison syndrome is caused by homozygous mutation in the EIF2AK3 gene (604032), which encodes translation initiation factor 2-alpha kinase-3, on chromosome 2p11. Description Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by Delepine et al., 2000). Clinical Features Wolcott and Rallison (1972) described 2 brothers and a sister with infancy-onset diabetes mellitus and multiple epiphyseal dysplasia.
- Wolcott-Rallison Syndrome Orphanet
  
  Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. Epidemiology Fewer than 60 cases have been reported to date. Most patients are from consanguineous families. Prevalence may therefore vary significantly between countries.WRS may be underdiagnosed because of early death before diagnosis. Clinical description Diabetes occurs early, generally before six months of age, is permanent and insulin-dependent from the onset. Skeletal dysplasia generally manifests within the 1st or 2nd year of life, and is associated with short stature (dwarfism with short trunk).
Auto-Brewery Syndrome Wikipedia

. ^ Kaji H, Asanuma Y, Yahara O, Shibue H, Hisamura M, Saito N, et al. (1984). "Intragastrointestinal alcohol fermentation syndrome: report of two cases and review of the literature". ... ISSN 1595-689X . ^ a b Hafez EM, Hamad MA, Fouad M, Abdel-Lateff A (May 2017). "Auto-brewery syndrome: Ethanol pseudo-toxicity in diabetic and hepatic patients". ... PMID 31037230 . ^ a b Saverimuttu J, Malik F, Arulthasan M, Wickremesinghe P (October 2019). ... PMC 1295472 . PMID 1744875 . ^ Simic M, Ajdukovic N, Veselinovic I, Mitrovic M, Djurendic-Brenesel M (March 2012). ... PMID 31423320 . ^ Spinucci G, Guidetti M, Lanzoni E, Pironi L (July 2006).
Alopecia Universalis Wikipedia

.; Messenger, Andrew G.; Christiano, Angela M.; Sundberg, John P. (2017-03-16). ... PMID 12833016 . ^ Clynes, Raphael; Christiano, Angela M.; Vaughan, Roger; Furniss, Megan; Ulerio, Grace; Clark, Charlotte; Cerise, Jane E.; Nguyen, Nhan; Jabbari, Ali (2016-09-22). ... PMID 27699253 . ^ Morris, Gabriela M.; Nahmias, Zachary P.; Kim, Brian S. (2018-07-01). ... PMID 30023415 . ^ Navarini, Alexander A.; French, Lars E.; Trüeb, Ralph M.; Kamarachev, Jivko; Maul, Julia-Tatjana; Anzengruber, Florian (2016). ... PMID 27194979 . ^ Clynes, Raphael; Christiano, Angela M.; Mackay-Wiggan, Julian; Petukhova, Lynn; Singh, Pallavi; Rothman, Lisa; DeStefano, Gina M.; Harel, Sivan; Jong, Annemieke de (September 2014).

HR, VDR, AHSG, LMNA, DSP, WDR11, PTPN22, FOXN1, XIST, TNF, LGALS8, AIRE, IL1RN, IL1B, HMGB1, HLA-DRB1, HLA-A, ACE, RBM45
- Alopecia Areata 1 OMIM
  
  Description Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body (Gilhar and Kalish, 2006). Clinical Features Alopecia areata is characterized by patchy hair loss on the scalp, which can eventually involve the entire scalp (alopecia totalis) or the entire body (alopecia universalis) (Martinez-Mir et al., 2007). The onset of the disease can be sudden, its progression is unpredictable, and it can be recurrent throughout life. Alopecia areata is viewed as a tissue-specific autoimmune disease of the hair follicle (Martinez-Mir et al., 2007).
- Alopecia Areata MedlinePlus
  
  Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition. In most people with alopecia areata, hair falls out in small, round patches, leaving coin-sized areas of bare skin. This patchy hair loss occurs most often on the scalp but can affect other parts of the body as well. Uncommonly, the hair loss involves the entire scalp (in which case the condition is known as alopecia totalis) or the whole body (alopecia universalis). Other rare forms of alopecia areata, which have different patterns of hair loss, have also been reported.
- Alopecia Universalis Congenita OMIM
  
  A number sign (#) is used with this entry because of evidence that alopecia universalis congenita (ALUNC) is caused by homozygous mutation in the human homolog of the mouse 'hairless' gene (HR; 602302) on chromosome 8p21. Description Alopecia universalis congenita is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair (Nothen et al., 1998). This rare disorder is clearly distinct from alopecia areata (AA1; 104000), which has an autoimmune basis with probable genetic predisposition. Clinical Features Ahmad et al. (1993) studied an inbred Pakistani kindred in which 9 males and 4 females had alopecia universalis as an isolated abnormality. The affected individuals were distributed in 7 related sibships. Skin biopsy from the scalp showed hair follicles without hair.
- Alopecia Universalis GARD
  
  Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata , a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which the person's immune system mistakenly attacks the hair follicles. An interaction between genetic and environmental factors is thought to play a role in the condition's onset. There is currently no cure for AU, but sometimes hair regrowth occurs on its own, even after many years.
- Alopecia Universalis Orphanet
  
  A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.
- Alopecia Areata 2 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of alopecia areata, see 104000. Mapping In an effort to define a genetic basis of alopecia areata, Martinez-Mir et al. (2007) performed a genomewide search for linkage to 20 families with 102 affected and 118 unaffected individuals from the United States and Israel. The analysis revealed evidence of at least 4 susceptibility loci on chromosome 6, 10, 16, and 18 using several different statistical approaches. Fine-mapping analysis with additional families yielded a maximum multipoint lod score of 3.93 on chromosome 18 (AA1; 104000), a 2-point affected sib pair (ASP) lod score of 3.11 on chromosome 16 at marker D16S415 (AA2), several ASP lod scores greater than 2.00 on chromosome 6q, and a haplotype-based relative risk lod of 2.00 on chromosome 6p, in the major histocompatibility complex locus. INHERITANCE - Autosomal dominant - Autosomal recessive SKIN, NAILS, & HAIR Hair - Well-circumscribed patches of hair loss on scalp - Alopecia universalis - Selective loss of pigmented hair MISCELLANEOUS - Incomplete penetrance - Autosomal dominant and recessive models are under consideration - Onset of disease can be sudden and the progression of the disorder unpredictable ▲ Close
Experimental Autoimmune Encephalomyelitis Wikipedia

EAE was motivated by observations during the convalescence from viral diseases by Thomas M. Rivers, D. H. Sprunt and G. P. Berry in 1933. ... PMID 16315280 . S2CID 12141651 . ^ MANNIE, M., R. H. SWANBORG and J. A. STEPANIAK, 2009,"Experimental autoimmune encephalomyelitis in the rat." ... Neuro Oncol . 18 : iv25. doi : 10.1093/neuonc/now188.085 . ^ a b Höftberger R, Leisser M, Bauer J, Lassmann H (Dec 2015). "Autoimmune encephalitis in humans: how closely does it reflect multiple sclerosis?" ... Neurology , April 2014. ^ Desai RA, Davies AL, Tachrount M, Kasti M, Laulund F, Golay X, Smith KJ (2016). ... CS1 maint: multiple names: authors list ( link ) ^ Cristofanilli M, Rosenthal H, Cymring B, Gratch D, Pagano B, Xie B, Sadiq SA (2014).

MOG, MBP, PLP1, EPO, FOXO3, NFE2L2, SIRT1, PPARA, CBLB, CCL3, CCL2, CCL1, PTN, PTGS2, PTGS1, PDGFRB, CCL11, PDGFRA, PDGFB, NTRK1, NGFR, NGF, NEFL, MMP9, MMP7, CCL5, CX3CL1, CIITA, VCAM1, HAVCR2, IL21, GHRL, IL22, RANGRF, AKAP12, QKI, IL18R1, VEGFA, TNF, SHH, TLR4, TLR2, TIMP3, TGFB2, TGFB1, ADAM17, STAT4, SNCB, SLPI, MMP2, A2M, MDK, CASP9, CCR5, CCR1, CTSC, ENTPD1, CD86, CD80, CD28, CD4, CAV3, CASP8, AIF1, CASP3, CACNA1B, C6, C3, BDNF, RHOA, AQP4, APOE, ANXA1, CNP, CPB2, CSPG4, CX3CR1, MAPT, LTA, JAK3, ITGA4, IL18, IL17A, IL16, IL12B, IL10RA, IL10, IL6, IL4, IL2RA, HMGCR, HLA-DQB1, HLA-DQA1, CXCR3, FGF2, DAB2, CCR2
Normal Pressure Hydrocephalus Wikipedia

PMID 14303656 . ^ Krauss JK, Faist M, Schubert M, Borremans JJ, Lucking CH, Berger W (2001). "Evaluation of Gait in Normal Pressure Hydrocephalus Before and After Shunting". In Ruzicka E, Hallett M, Jankovic J (eds.). Gait Disorders . ... PMC 5619317 . PMID 29213984 . ^ a b Kiefer M, Unterberg A (January 2012). "The differential diagnosis and treatment of normal-pressure hydrocephalus" . ... PMID 20477715 . ^ Marmarou A, Bergsneider M, Klinge P, Relkin N, Black PM (September 2005). ... Neurology . 42 (1): 54–59. doi : 10.1212/wnl.42.1.54 . PMID 1734324 . ^ Poca MA, Mataró M, Del Mar Matarín M, Arikan F, Junqué C, Sahuquillo J (May 2004).

CFAP43, NPHP1, CSF2, TUBB3, LAMC2, PMPCA, ERCC6, ERCC8, NXPH1, ACE, NPHP4, NEK8, MUC1, AQP4, ANKS3, APOE, UMOD, INVS, ALDH3A2, MLYCD, DNAJC13, ALB, NPHP3, CPVL, GLIS2, ANKS6, MAPKBP1, TYRP1, TBPL1, PER2, PROM1, VIM, TRPC1, TNF, TAZ, PSMD10, PSEN1, PRNP, PRKD1, PAX2, EPO, C3, BCL2, MIR4274
- Low Pressure Hydrocephalus Wikipedia
  
  This article includes a list of references , related reading or external links , but its sources remain unclear because it lacks inline citations . Please help to improve this article by introducing more precise citations. ( April 2011 ) ( Learn how and when to remove this template message ) Low pressure hydrocephalus Ventricles position Specialty Neurology Low-pressure hydrocephalus (LPH) is a condition whereby ventricles are enlarged and the individual experiences severe dementia , inability to walk, and incontinence – despite very low intracranial pressure (ICP). Low pressure hydrocephalus appears to be a more acute form of normal pressure hydrocephalus . If not diagnosed in a timely fashion, the individual runs the risk of remaining in the low pressure hydrocephalic state or LPHS. Shunt revisions, even when they are set to drain at a low ICP, are not always effective.
Gastric Dilatation Volvulus Wikipedia

. ^ a b Glickman L, Glickman N, Schellenberg D, Raghavan M, Lee T (2000). "Incidence of and breed-related risk factors for gastric dilatation-volvulus in dogs". ... PMID 8784718 . ^ Glickman L, Glickman N, Schellenberg D, Raghavan M, Lee T (2000). "Non-dietary risk factors for gastric dilatation-volvulus in large and giant breed dogs". ... Retrieved 2007-04-17 . ^ Bright, Ronald M. (2004). "Gastric dilatation-volvulus: risk factors and some new minimally invasive gastropexy techniques" . ... Retrieved 15 October 2017 . ^ a b Mackenzie G, Barnhart M, Kennedy S, DeHoff W, Schertel E (March–April 2010). ... Assoc . 204 (9): 1465–71. PMID 8050972 . ^ Ward M, Patronek G, Glickman L (2003). "Benefits of prophylactic gastropexy for dogs at risk of gastric dilatation-volvulus".
Abetalipoproteinemia Wikipedia

PMID 20953537 . ^ a b Moutzouri E, Elisaf M, Liberopoulos EN (March 2011). "Hypocholesterolemia". ... PMID 21827896 . ^ Hussain MM, Rava P, Walsh M, Rana M, Iqbal J (February 2012). ... PMC 3337244 . PMID 22353470 . ^ Najah M, Youssef SM, Yahia HM, Afef S, Awatef J, Saber H, et al. ... PMID 23556456 . ^ Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, et al. ... PMID 23043934 . ^ a b Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, et al.

MTTP, APOB, PANK2, VPS13A, SAR1B, GATA1, ABL1, KCNN4, XK, CAD, CYP4F22, HADHB, MT1B, BCR, HADHA, EVPL, RN7SL263P, GPT, TNFSF11, MPO, LGALS1, TNFRSF11A, MRPL28, IL18R1, WASF1, EBI3, SORBS2, FAM107B, SMR3B, SUB1, CRLF2, PTP4A3, PART1, NXT1, TEK, NOX4, HDL3, JPH3, PCSK9, MYB, CCL2, HIF1A, ACTB, ALK, APOE, CBL, CD34, CDKN2B, EPHA4, ETV6, FABP1, GFI1, IL10, PTPN1, IL11, JAK2, LDLR, MAP3K1, KMT2A, ABL2, NPM1, TNFRSF11B, PIK3C2A, PRL, H3P9
- Abetalipoproteinemia GeneReviews
  
  Summary Clinical characteristics. Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-soluble vitamins (A, D, E, and K) can result in an increased international normalized ratio (INR). Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood. Neuromuscular findings in untreated individuals including progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle weakness; dysarthria; and ataxia typically manifest in the first or second decades of life.
- Abetalipoproteinemia OMIM
  
  A number sign (#) is used with this entry because abetalipoproteinemia is caused by homozygous or compound heterozygous mutation in the MTP gene (MTTP; 157147) on chromosome 4q23. See familial hypobetalipoproteinemia (FHBL; 615558) for a similar disorder caused by mutation in the APOB gene (107730). Description Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).
- Abetalipoproteinemia GARD
  
  Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth. Without treatment, later complications may include muscle weakness, poor night and color vision, tremors, and speech difficulties. The long-term outcome can be difficult to predict. Abetalipoproteinemia is diagnosed based on clinical exam, laboratory tests showing abnormally low cholesterol, and confirmed by genetic testing. This condition is caused by genetic variants in the MTTP gene and is inherited in an autosomal recessive pattern.
- Abetalipoproteinemia MedlinePlus
  
  Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system , eyes, nervous system, and blood. The first signs and symptoms of abetalipoproteinemia appear in infancy. They often include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; and fatty, foul-smelling stools (steatorrhea).
- Abetalipoproteinemia Orphanet
  
  A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. Epidemiology It is very rare, with an estimated prevalence of less than 1/1,000,000. Clinical description Abetalipoproteinemia manifests during the first year of life or in young childhood. It is often associated with growth delay, hepatomegaly with steatosis, diarrhea with steatorrhea, and fat malabsorption. Spastic ataxia, atypical retinitis pigmentosa, acanthocytosis, a low level of liposoluble vitamins, and major cytolysis and even cirrhosis can occur.
Cadasil Wikipedia

.; Joutel, A.; Vahedi, K.; Iba-Zizen, M. T.; Tournier-Lasserve, E.; Bousser, M. ... PMID 7676806 . ^ Vlachakis D, Champeris Tsaniras S, Ioannidou K, Papageorgiou L, Baumann M, Kossida S (October 2014). "A series of Notch3 mutations in CADASIL; insights from 3D molecular modelling and evolutionary analyses". ... Lancet . 358 (9298): 2049–51. doi : 10.1016/S0140-6736(01)07142-2 . PMID 11755616 . ^ Ueda M, Nakaguma R, Ando Y (March 2009). ... PMID 20464302 . ^ a b Lesnik Oberstein, S. A.; van den Boom, R.; van Buchem, M. A.; van Houwelingen, H. C.; Bakker, E.; Vollebregt, E.; Ferrari, M. D.; Breuning, M. H.; Haan, J. (2001-09-25). "Cerebral microbleeds in CADASIL".

NOTCH3, HTRA1, EGF, COL4A1, COL18A1, NOTCH1, JAG1, APOE, APP, LPA, TREX1, GFAP, PLXNA2, CTSA, PROC, ACTB, SOD1, TGFB1, NOTCH2, LAP, MRS2, RNF213, NOX5, THBD, KDR, NEFL, ACTG2, RBPJ, FN1, FBN1, ELN, DVL1, DCN, CSF3, CSF1R, CLU, CACNA1A, BGN, APCS, LINC01191
- Cadasil GeneReviews
  
  CARASIL = c erebral a utosomal r ecessive a rteriopathy with s ubcortical i nfarcts and l eukoencephalopathy 2. MELAS = m itochondrial e ncephalomyopathy, l actic a cidosis, and s troke-like episodes 3.
- Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy Orphanet
  
  CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients. Epidemiology In Europe, the prevalence of CADASIL has been estimated to range between 1/50 000- 1/25 000. Clinical description The first manifestation of the disease occurs at a mean age of 45-50, usually in the form of ischemic stroke or cognitive decline. The disease onset and course is variable, but more than two thirds of patients suffer from (recurrent) stroke or dementia. Migraine, usually with aura, occurs in about a third of patients and often precedes stroke and dementia symptoms, with a mean age of onset of about 30 years.
- Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 OMIM
  
  A number sign (#) is used with this entry because of evidence that autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 (CADASIL1) is caused by heterozygous mutation in the NOTCH3 gene (600276) on chromosome 19p13. Description Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive disorder of the small arterial vessels of the brain manifest by migraine, strokes, and white matter lesions, with resultant cognitive impairment in some patients (review by Kalimo et al., 1999). Clinical Features Stevens et al. (1977) reported an English family with onset of recurrent cerebral ischemic strokes between 39 and 57 years resulting in progressive neurologic dysfunction and eventual dementia. Affected individuals did not have hypertension, diabetes, or increased cholesterol, but neuropathologic investigation showed abnormalities of the cerebral vasculature; the authors suggested that it was a form of 'vascular encephalopathy.' Low et al. (2007) provided a follow-up of the family reported by Stevens et al. (1977), including confirmation of the CADASIL diagnosis by identification of a pathogenic mutation in the NOTCH3 gene (see MOLECULAR GENETICS).
- Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy MedlinePlus
  
  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels , particularly cerebral vessels within the brain. The muscle cells surrounding these blood vessels (vascular smooth muscle cells ) are abnormal and gradually die. In the brain, the resulting blood vessel damage (arteriopathy) can cause migraines, often with visual sensations or auras, or recurrent seizures (epilepsy). Damaged blood vessels reduce blood flow and can cause areas of tissue death (infarcts) throughout the body.
- Cadasil GARD
  
  CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. CADASIL is characterized by migraine headaches and multiple strokes , which progresses to dementia. Other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s.
Enteritis Wikipedia

PMID 23904840 . ^ Epple, H.-J.; Zeitz, M. (2011-09-01). "[Infectious enteritis]". ... PMC 2732465 . PMID 11927019 . ^ Colles, F. M.; McCarthy, N. D.; Howe, J. C.; Devereux, C. L.; Gosler, A. G.; Maiden, M. C. J. (2009-01-01). "Dynamics of Campylobacter colonization of a natural host, Sturnus vulgaris (European Starling)" . ... PMID 15367586 . ^ a b c Petrillo, T. M.; Beck-Sagué, C. M.; Songer, J. G.; Abramowsky, C.; Fortenberry, J. D.; Meacham, L.; Dean, A. G.; Lee, H.; Bueschel, D. M. (2000-04-27). "Enteritis necroticans (pigbel) in a diabetic child".

TNFSF15, ICAM1, MPO, CXCL1, CXCL8, IL10, IL6, FOXP3, CPB2, CST2, TLR2, TLR4, AIMP2, RFXANK, ST8SIA2, AGER, ZYX, XBP1, GLP2R, TSC2, TIMP1, TGFB2, TACR1, TAC1, STAT5B, BECN1, SLC9A6, GRAP2, EGLN1, MIR148B, MIR32, MIR30A, SLC38A5, SYVN1, NOD2, HAMP, IL17D, SPI1, IL22, ICOS, POLDIP2, RNF19A, KLRK1, CAMKK2, AHSA1, STAT5A, NFATC1, SPARC, FDPS, HSPA5, CFH, GCG, LRRC32, FOSB, FOS, FES, DUSP1, MAPK1, DEFB1, MAPK14, CRK, COL3A1, CD40LG, CASP8, ALOX15, TNC, IFNA1, IFNA13, IFNG, PLA2G4A, SERPINE1, ALB, MMP9, MMP1, SMAD3, LYZ, LTF, JUND, JUNB, JUN, IL15, IL11, IL4, IL1B, KLRC4-KLRK1
Dysmetria Wikipedia

Cerebellum . 6 (3): 254–67. doi : 10.1080/14734220701490995 . PMID 17786822 . ^ Manto M (2009). "Mechanisms of human cerebellar dysmetria: experimental evidence and current conceptual bases" . ... PMID 10377369 . ^ a b c d e f g h i j k l m n o p q Vahdat S, Maghsoudi A, Haji Hasani M, Towhidkhah F, Gharibzadeh S, Jahed M (October 2006). ... Lett . 325 (3): 211–5. doi : 10.1016/S0304-3940(02)00268-9 . PMID 12044658 . ^ Manto, M.; Godaux, E.; Jacquy, J. (January 1994). ... ISSN 0364-5134 . PMID 8285591 . ^ Leggio, M.; Molinari, M. (February 2015). "Cerebellar sequencing: a trick for predicting the future".

RFC1, SNX14, SCN8A, RPL27A, STUB1, ATXN10, TTC19, GTPBP2, TMEM106B, PTRH2, AP5Z1, TIMMDC1, PNPLA8, TBL2, SACS, ATP6AP2, HIBCH, ABHD12, PLD3, WARS2, PIK3R5, ADPRS, CAMTA1, PMPCA, NFASC, SPART, SETX, POLR3A, AFG3L2, KIF1C, YME1L1, NOP56, SYNE1, ABCB7, PUM1, LNPK, TGM6, JMJD8, EBF3, BRAT1, SAMD9L, VWA3B, PRICKLE1, WDR81, SFXN4, MARS2, NDUFAF2, SLC25A46, REPS1, TCTN2, ANO10, FA2H, COA7, IRF2BPL, PIEZO2, MYORG, GJC2, COQ8A, ERMARD, NGLY1, POLR3B, CWF19L1, DARS2, MSTO1, TECPR2, PMPCB, GTF2IRD1, PEX2, PRKCG, PPP2R2B, PLP1, PDYN, OPHN1, OPA1, NEU1, MRE11, MAG, LIMK1, KCNC1, ITPR1, IFRD1, GTF2I, GRM1, GRID2, GJB1, B4GALNT1, FXN, FMR1, ELN, ATN1, CRAT, TPP1, ERCC8, CAV1, KIF1A, PRNP, RARS1, ATP1A3, RFC2, ATG5, PEX16, ADGRG1, CACNA2D2, CTDP1, BAZ1B, CACNA1G, SQSTM1, GPAA1, DEGS1, PLA2G6, ACOX2, LAGE3, XRCC4, XRCC1, CLIP2, VLDLR, UCHL1, TTPA, TOP3A, TBP, SPTBN2, SLC9A1, SCN2A, ATXN7, ATXN2, ATXN1, CCDC88C
Anaphylaxis Wikipedia

PMC 3122150 . PMID 21682750 . ^ Worm, M (2010). "Epidemiology of anaphylaxis". ... Retrieved 2014-01-16 . ^ a b Simons FE, Ebisawa M, Sanchez-Borges M, Thong BY, Worm M, Tanno LK, Lockey RF, El-Gamal YM, Brown SG, Park HS, Sheikh A (2015). "2015 update of the evidence base: World Allergy Organization anaphylaxis guidelines" . ... PMID 20684869 . ^ Simons, FE; Ardusso, LR; Dimov, V; Ebisawa, M; El-Gamal, YM; Lockey, RF; Sanchez-Borges, M; Senna, GE; Sheikh, A; Thong, BY; Worm, M; World Allergy, Organization. (2013). ... PMID 20543673 . S2CID 205435146 . ^ Halbrich, M; Mack, DP; Carr, S; Watson, W; Kim, H (2015). ... ISBN 978-1-4200-1756-4 . ^ a b Tejedor-Alonso M, A; Moro-Moro, M; Múgica-García, MV (2015).

KNG1, ASPG, LTB4R, NLRP3, BTK, PTGS1, PTGS2, ADRB1, VCAM1, TPSD1, ACE, F9, VWF, CD63, FCGR2B, HP, MRGPRX2, FCGR3A, FCGR2A, STK11, MILR1, CCL2, IL10, IL33, TNF, FCGR1A, OGA, FCER1A, IL6, CD33, SIRT1, IL9, FCGR3B, IL4, MCAT, IL5, MCPH1, STAT3, IGHE, SLC16A1, ADRB2, COX8A, PTPN1, VEGFA, RHD, TRPV1, ABHD16A, NR0B2, TRPC1, SCN5A, SAA1, PVALB, RPE65, TM7SF2, STXBP2, RGS13, STAT6, BHLHE40, SPG7, CCL7, SAA2, CCL3, PTPN6, ABL1, SOCS1, NT5C3A, TNFRSF12A, ARHGEF40, WDR11, CYSLTR2, AICDA, AHRR, CABS1, TSLP, SESTD1, C20orf181, LINC01672, LOC102723407, LOC102723971, LOC102724971, LINC02210-CRHR1, BFAR, CPA4, TNFSF10, IGHV3-69-1, HDAC3, SOCS3, HACD1, PCLAF, NR1H4, IL18BP, CAP1, PROC, SORBS1, MASP2, BRD4, PART1, CHIC2, SGSM3, IGHV3OR16-7, PTAFR, MTTP, PLSCR1, RCAN1, CPN1, CRH, CRHR1, CSF3, CTAA1, CTSD, DNASE1, ELAVL2, CHRM3, EPO, ESR1, ESR2, F8, F10, MS4A2, FCGR1B, CPA3, CDH15, PITX2, APOA1, ACADM, ADAM10, JAG1, AGT, AGXT, AHR, ANGPT1, FASLG, CD36, ARSA, AVP, BAAT, BRAF, TSPO, CD80, CD86, FLG, GAPDH, GATA1, NFKB1, LNPEP, LTC4S, LYZ, MITF, MPO, MRC1, ABO, NHS, GATA2, NOS3, NOTCH1, PAEP, PAFAH1B2, PECAM1, PFAS, SERPINB6, KIT, ISG20, IL18, IL17A, GCG, GPT, HDC, HLA-DQB1, NR4A1, HSPA4, HTR3A, ICAM1, IFNG, IGH, IL1A, IL1B, IL2RA, IL4R, IL13, PERCC1
- Anaphylaxis Mayo Clinic
  
  Symptoms Anaphylaxis symptoms usually occur within minutes of exposure to an allergen. Sometimes, however, anaphylaxis can occur a half-hour or longer after exposure. In rare cases, anaphylaxis may be delayed for hours. Signs and symptoms include: Skin reactions, including hives and itching and flushed or pale skin Low blood pressure (hypotension) Constriction of the airways and a swollen tongue or throat, which can cause wheezing and trouble breathing A weak and rapid pulse Nausea, vomiting or diarrhea Dizziness or fainting When to see a doctor Seek emergency medical help if you, your child or someone else you're with has a severe allergic reaction. Don't wait to see if the symptoms go away. If you have an attack and you carry an epinephrine autoinjector, administer it right away. Even if symptoms improve after the injection, you still need to go to an emergency room to make sure symptoms don't recur, even without more exposure to the allergen.
Thrombotic Thrombocytopenic Purpura Wikipedia

Med . 339 (22): 1629–31. doi : 10.1056/NEJM199811263392210 . PMID 9828253 . ^ Furlan M, Robles R, Galbusera M, et al. (1998). ... J Pediatr Hematol Oncol ^ Schulman I, Pierce M, Lukens A, Currimbhoy Z (July 1960). ... ISBN 978-0781765077 . ^ Kokame, K.; Matsumoto, M; Soejima, K; Yagi, H; Ishizashi, H; Funato, M; Tamai, H; Konno, M; Kamide, K; Kawano, Y; Miyata, T; Fujimura, Y (14 August 2002). ... PMID 21051740 . ^ a b Caprioli J, Noris M, Brioschi S, et al. (August 2006). ... PMC 3159000 . PMID 20058209 . ^ Bitzan M, Schaefer F, Reymond D (September 2010).

ADAMTS13, TFPI, F3, THBD, CFH, VWF, HLA-DRB1, PLG, SH3BP4, FLT4, ZFP36, HLA-DQB1, RBM45, CASP1, ABO, CRISP2, THBS1, DGKE, TNFSF10, CFLAR, PKD2L1, MAPKAPK2, CFHR3, TGFB1, WAS, ABCA1, PLA2G15, CCL2, MIR133B, PRSS55, RMDN2, KCNH8, TNFRSF13C, IL33, ACCS, SPZ1, CD248, ACSS2, ADAMTSL4, KRT20, TLR9, CLEC1B, PTPN22, STAT3, SERPINF2, S100B, MS4A1, EPHB1, ELAVL1, SLC25A10, CSF3, CRP, CD27, CD19, GHRH, CASP8, CASP3, CACNA1S, C3, APOH, APOA1, F2, BRF1, PTX3, CD46, PTGS2, PHEX, SERPINF1, SERPINE1, NRAS, COX2, JAK2, CFHR1, IL1B, IFNG, IFNB1, HP, HLA-DRB4, HLA-DRB3, MTCO2P12
- Thrombotic Thrombocytopenic Purpura, Congenital OMIM
  
  A number sign (#) is used with this entry because familial thrombotic thrombocytopenic purpura (TTP) is caused by mutation in the ADAMTS13 gene (604134), which encodes the von Willebrand factor (VWF; 613160)-cleaving protease (VWFCP). See 235400 for a discussion of the hemolytic-uremic syndrome (HUS), which has signs and symptoms similar to those in thrombotic thrombocytopenic purpura. Description The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function, and fever. Congenital TTP, also known as Schulman-Upshaw syndrome, is characterized by neonatal onset, response to fresh plasma infusion, and frequent relapses (Savasan et al., 2003; Kokame et al., 2002). Acquired TTP, which is usually sporadic, usually occurs in adults and is caused by an IgG inhibitor against the von Willebrand factor-cleaving protease.
- Thrombotic Thrombocytopenic Purpura Orphanet
  
  An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form. Clinical description iTTP generally occurs in adulthood, whereas cTTP usually in the neonatal period, during childhood or in the setting of pregnancy. Onset is usually acute but early symptoms may include fatigue, purpura or ecchymoses, abdominal pain, arthralgia and myalgia, resembling a flu-like episode. Disseminated microvascular thrombosis leads to consumptive peripheral thrombocytopenia, MAHA and widespread organ injury associated with cerebral (headache, confusion, altered consciousness, coma, seizures, hemiparesis and visual disturbances), cardiac (arrhythmia, infarction, congestive heart failure and cardiac arrest) and gastrointestinal (nausea, vomiting, abdominal pain and diarrhea) manifestations. Purpura and petechiae are the most common bleeding manifestations. Renal involvement is usually mild.
Acute Inhalation Injury Wikipedia

Proc Am Thorac Soc. 7: 253 ^ Kennedy SM, Enarson DA, Janssen RG, Chan-Yeung M. (1991) Lung health consequences of reported accidental chlorine gas exposures among pulpmill workers. ... Postgrad Med. 112:133-40. ^ Lalić H, Djindjić-Pavicić M, Kukuljan M. (2009) Ammonia intoxication on workplace--case report and a review of literature. ... Clin Chest Med. 15:103-16. ^ Witschi H. (1977) Environmental agents altering lung biochemistry. Fed Proc. 36:1631-4. ^ Adelipour M, Imani Fooladi AA, Yazdani S, Vahedi E, Ghanei M, Nourani MR. (2011) Smad molecules expression pattern in human bronchial airway induced by sulfur mustard. Iran J Allergy Asthma Immunol. 10:147-54. ^ Ghabili K, Agutter PS, Ghanei M, Ansarin K, Panahi Y, Shoja MM. (2011) Sulfur mustard toxicity: history, chemistry, pharmacokinetics, and pharmacodynamics. ... Crit Care Clin. 2:455-70. ^ Uchida T, Makita K. (2008) Acute lung injury and alveolar epithelial function. Masui. 57:51-9. ^ Tang PS, Mura M, Seth R, Liu M. (2008) Acute lung injury and cell death: how many ways can cells die?
Chytridiomycosis Wikipedia

JSTOR 3761366 . ^ Martel, A.; Spitzen-van der Sluijs, A.; Blooi, M.; Bert, W.; Ducatelle, R.; Fisher, M. ... T.; Rachowicz L. J.; Knapp R. A.; Stice M. J.; Tunstall T.; Bingham R. E.; Parker J. ... Retrieved 14 October 2013 . ^ McMahon, T. A.; Brannelly, L. A.; Chatfield, M. W.; Johnson, P. T.; Joseph, M. B.; McKenzie, V. ... Ecological Applications . 11 (2): 464–479. doi : 10.1890/1051-0761(2001)011[0464:DOTCRL]2.0.CO;2 . ^ Hayes TB, Case P, Chui S, Chung D, Haeffele C, Haston K, Lee M, Mai VP, Marjuoa Y, Parker J, Tsui M (April 2006). ... L.; Schrenzel M. D.; Pessier A. P. (2012). "Treatment of chytridiomycosis with reduced-dose itraconazole" .
Von Willebrand Disease Wikipedia

Haemophilia . 14 (2): 171–232. doi : 10.1111/j.1365-2516.2007.01643.x . PMID 18315614 . ^ Lavin M, Aguila S, Schneppenheim S, Dalton N, Jones KL, O'Sullivan JM, O'Connell NM, Ryan K, White B, Byrne M, Rafferty M, Doyle MM, Nolan M, Preston RJ, Budde U, James P, Di Paola J, O'Donnell JS (November 2017). ... PMID 28916584 . ^ "Von Willebrand Disease" . hemophilia.org . 4 March 2014 . Retrieved 4 April 2018 . ^ Lavin M, Aguila S, Dalton N, Nolan M, Byrne M, Ryan K, White B, O'Connell NM, O'Sullivan JM, Di Paola J, James PD, O'Donnell JS (July 2018). ... Kouides: Inherited Bleeding Disorders in Women P., ISBN 1-4051-6915-X ^ Favaloro EJ, Bonar R, Kershaw G, Sioufi J, Baker R, Hertzberg M, Street A, Marsden K (July 2006). ... Retrieved 27 March 2020 . ^ "Canine von Willebrand Disease - Breed Summaries" . ahdc.vet.cornell.edu . 2019-02-08. ^ "Canine von Willebrand Disease" . vetgen.com . ^ Lehner S, Ekhlasi-Hundrieser M, Detering C, Allerkamp H, Pfarrer C, von Depka Prondzinski M (February 2018). ... The New England Journal of Medicine . 351 (7): 683–94. doi : 10.1056/NEJMra040403 . PMID 15306670 . Laffan M, Brown SA, Collins PW, Cumming AM, Hill FG, Keeling D, Peake IR, Pasi KJ (May 2004).

VWF, P2RY12, F8, COX8A, ADAMTS13, GP1BA, F9, AK3, ABO, IL11, F11, ACTB, VWA8, ITIH1, TLR5, ITIH5, ANGPT2, POU2F3, CHRD, ALKBH1, CLEC4M, C20orf181, MUC5B, ATP6V0A2, SMPX, RABGEF1, CRISPLD2, SEC1P, PRB2, GP6, BMPER, TERF2IP, FAM20C, STXBP5, ANTXR1, ANO2, RAP1A, THPO, PDIA3, AGT, AVP, CANX, CD40, CLCA1, CSHL1, COCH, EPHA3, F2, F3, IFNA2, THBS1, RBPJ, ITGA2, ITGA2B, LRPAP1, MTHFR, CCN3, SERPINE1, PLG, POMC, SET, BOP
- Von Willebrand Disease Orphanet
  
  A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2). Epidemiology The prevalence of Von Willebrand disease (VWD) in the general population is estimated at between 0.6 and 1.3% (including all forms) depending on the study, but the prevalence of symptomatic VWD that requires specific treatment is approximately 1/10 000. Type 3 VWD is much more rare (1/1 000 000). Clinical description Age of onset varies, with earlier onset being associated with more severe VWF deficiency. The disease manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure.
- Von Willebrand Disease Mayo Clinic
  
  Overview Von Willebrand disease is a lifelong bleeding disorder in which your blood doesn't clot properly. People with the disease have low levels of von Willebrand factor, a protein that helps blood clot, or the protein doesn't perform as it should. Most people with the disease are born with it, having inherited it from one or both parents. However, warning signs, such as heavy bleeding after a dental procedure, might not show up for years. Von Willebrand disease can't be cured. But with treatment and self-care, most people with this disease can lead active lives.
- Von Willebrand Disease, X-Linked Form OMIM
  
  Holmberg and Nilsson (1973) used a monospecific precipitating rabbit antiserum against human antihemophilic factor-related protein to study 77 patients with von Willebrand disease (defined by low factor VIII, prolonged bleeding time and decreased platelet adhesiveness). They found two groups of patients. The larger group (57 patients) corresponded to classic von Willebrand disease and had low factor VIII protein. The other 20 patients had normal amounts of protein. Their disorder may be X-linked dominant. Infusion of human antihemophilic factor containing fraction I-O did not produce the delayed increase in antihemophilic factor characteristic of the first group. Various forms were suggested also by Koutts et al. (1975). Inheritance - ?
- Von Willebrand Disease GeneReviews
  
  Summary Clinical characteristics. Von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age. Recent guidelines on VWD have recommended taking a VWF level of 30 or 40 IU/dL as a cutoff for those diagnosed with the disorder. Individuals with VWF levels greater than 30 IU/dL and lower than 50 IU/dL can be described as having a risk factor for bleeding. This change in guidelines significantly alters the proportion of individuals with each disease type. Type 1 VWD (~30% of VWD) typically manifests as mild mucocutaneous bleeding.
Intravascular Lymphomas Wikipedia

PMID 31966830 . ^ a b c d e f g h i j k l m n o p q r s t Ponzoni M, Campo E, Nakamura S (October 2018). ... PMID 19717091 . ^ a b c d e f g h i j k Zanelli M, Mengoli MC, Del Sordo R, Cagini A, De Marco L, Simonetti E, Martino G, Zizzo M, Ascani S (November 2018). ... PMID 28461685 . ^ a b Komeno Y, Akiyama M, Okochi Y, Tokuda H, Abe K, Iihara K, Ryu T (2019). ... PMID 29737107 . ^ Saito T, Matsuya T, Takahashi C, Kaneta K, Ohishi Y, Uehara J, Hashimoto M, Honma M, Ishida-Yamamoto A (March 2017). ... PMID 27422850 . ^ Ferreri AJ, Campo E, Seymour JF, Willemze R, Ilariucci F, Ambrosetti A, Zucca E, Rossi G, López-Guillermo A, Pavlovsky MA, Geerts ML, Candoni A, Lestani M, Asioli S, Milani M, Piris MA, Pileri S, Facchetti F, Cavalli F, Ponzoni M (October 2004).

BCL6, BCL2, TNFRSF8, CD274, SMUG1, ACP3, LAMC2, KRT20, PRTN3, MME, KMT2A, IGH, IRF4, ALK, CSF3, CSF2, CRP, MS4A1, PWWP3A
- Intravascular Large B-Cell Lymphoma Orphanet
  
  Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.
Wernicke Encephalopathy Wikipedia

PMID 11304070 . ^ a b c d e f g h i j k l m Galvin R, Bråthen G, Ivashynka A, Hillbom M, Tanasescu R, Leone MA (December 2010). ... PMID 20050893 . ^ Kondo, K.; Fujiwara, M.; Murase, M.; Kodera, Y.; Akiyama, S.; Ito, K.; Takagi, H. (1996). ... ISBN 978-1-58890-191-0 . ^ Ishiko T, Taguchi T, Takeguchi M, Saito H, Nanri K (September 2009). ... ISBN 978-9701057070 . ^ a b Vasconcelos, M. M.; Silva, K. P.; Vidal, G.; Silva, A. ... PMID 22093426 . ^ Passemard, S.; Kaindl, A. M.; Verloes, A. (2013). "Microcephaly".

TKT, PTGS2, BDNF, IFNG, JAK2, MAPT, KIAA0319, SMUG1, SLC19A3
Devil Facial Tumour Disease Wikipedia

PMID 19021786 . ^ Hawkins CE, McCallum H, Mooney N, Jones M, Holdsworth M. (2009). Sarcophilus harrisii . ... Version 2009.1. [ full citation needed ] ^ Janeway CA, Travers P, Walport M, Shlomchik M. (2001). Immunobiology. ... PMID 20219455 . ^ Epstein B, Jones M, Hamede R, Hendricks S, McCallum H, Murchison EP, et al. ... Retrieved 2016-08-30 . ^ Epstein B, Jones M, Hamede R, Hendricks S, McCallum H, Murchison EP, et al. ... Retrieved 2018-01-27 . ^ Cheng Y, Makara M, Peel E, Fox S, Papenfuss AT, Belov K (2019-03-13).