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Achromatopsia Wikipedia

CS1 maint: ref=harv ( link ) Ronchi, A. M. (2009). eCulture: cultural content in the digital age . ... Achromatopsia at MedicineNet Achromatopsia at Merriam-Webster Achromatopsia at NCBI Classification D ICD - 10 : H53.5 ICD - 9-CM : 368.54 OMIM : 216900 MeSH : D003117 DiseasesDB : 83 External resources MedlinePlus : 001002 GeneReviews : NBK1418 GARD : ACHM Orphanet : 49382 Achromatopsia v t e Color topics Red Orange Yellow Green Cyan Blue Indigo Violet Purple Magenta Pink Brown White Gray Black Color science Color physics Electromagnetic spectrum Light Rainbow Visible Spectral colors Chromophore Structural coloration Animal coloration Color of chemicals Water On Vision and Colours Metamerism Spectral power distribution Color perception Color vision Color blindness Achromatopsia test Tetrachromacy Color constancy Color term Color depth Color photography Spot color Color printing Web colors Color mapping Color code Color management Chrominance False color Chroma key Color balance Color cast Color temperature Eigengrau The dress Color psychology Color symbolism Color preferences Lüscher color test Kruithof curve Political color National colors Chromophobia Chromotherapy Color philosophy Color space Color model additive subtractive Color mixing Primary color Secondary color Tertiary color (intermediate) Quaternary color Quinary color Aggressive color (warm) Receding color (cool) Pastel colors Color gradient Color scheme Color tool Monochromatic colors Complementary colors Analogous colors Achromatic colors (Neutral) Polychromatic colors Impossible colors Light-on-dark Tinctures in heraldry Color theory Chromaticity diagram Color solid Color wheel Color triangle Color analysis (art) Color realism (art style) Color terms Basic terms Blue Green Red Yellow Pink Purple Orange Black Gray White Brown Cultural differences Linguistic relativity and the color naming debate Blue–green distinction in language Color history Color in Chinese culture Traditional colors of Japan Human skin color Color dimensions Hue Dichromatism Colorfulness (chroma and saturation) Tints and shades Lightness (tone and value) Grayscale Color organizations Pantone Color Marketing Group Color Association of the United States International Colour Authority International Commission on Illumination (CIE) International Color Consortium International Colour Association Lists List of colors: A–F List of colors: G–M List of colors: N–Z List of colors (compact) List of colors by shade List of color palettes List of color spaces List of Crayola crayon colors history Color chart List of RAL colors List of web colors Related Vision Digital image processing Multi-primary color display Quattron Qualia Lighting Local color (visual art) Category Index v t e Physiology of the visual system Vision Accommodation Gaze Intraocular pressure Visual field Color vision Color blindness Achromatopsia Köllner's rule Opponent process Dichromacy Monochromacy Pentachromacy Tetrachromacy Trichromacy v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma Onchocerciasis Authority control GND : 4242792-7 LCCN : sh85028584 NLI : 000664610

PDE6C, CNGB3, CNGA3, GNAT2, ATF6, PDE6H, RPGR, CNNM4, NBAS, HBB, CABP4, PLXNA2, CNTF, COASY, NYX, CC2D2A, FRMD7, STS, NR2E3, NOC2L, CRB1, OPN1SW, RHO, PAX6, CACNA1F, POC1B
- Achromatopsia 3 OMIM
  
  A number sign (#) is used with this entry because of evidence that the form of recessive achromatopsia present in high incidence among Pingelapese islanders, here designated achromatopsia-3 (ACHM3), is caused by homozygous or compound heterozygous mutation in the CNGB3 gene (605080), which encodes the beta subunit of the cone cyclic nucleotide-gated cation channel, on chromosome 8q21. A form of achromatopsia designated ACHM1 was later found to be the same as ACHM3, caused by mutation in the CNGB3 gene (605080.0002). For a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (216900). Clinical Features Brody et al. (1970) described in Pingelapese people of the eastern Caroline Islands in the Pacific, a severe ocular abnormality manifested by horizontal pendular nystagmus, photophobia, amaurosis, colorblindness, and gradually developing cataract. From 4 to 10% of Pingelapese people are blind from infancy. Segregation analysis and equal sex distribution supported recessive inheritance.
- Retinal Cone Dystrophy 3a OMIM
  
  A number sign (#) is used with this entry because of evidence that retinal cone dystrophy with supernormal rod electroretinogram (RCD3A) can be caused by mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H; 601190) on chromosome 12p13. In addition, achromatopsia-6 (ACHM6) can be caused by homozygous mutation in PDE6H. Another form of cone dystrophy with supernormal rod electroretinogram (RCD3B; 610356) is caused by mutation in the KCNV2 gene (607604). Clinical Features Cone Dystrophy With Supernormal Rod Electroretinogram Cone dystrophy with supernormal rod electroretinogram, also known as retinal cone dystrophy-3 (RCD3), is an autosomal recessive disorder that causes lifelong visual loss combined with a supernormal ERG response to a bright flash of light. The disorder was first described by Gouras et al. (1983) and is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision.
- Achromatopsia 4 OMIM
  
  A number sign (#) is used with this entry because achromatopsia-4 can be caused by homozygous or compound heterozygous mutation in the GNAT2 gene (139340) on chromosome 1p13. Description Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus (Kohl et al., 2002). For a general description and a discussion of genetic heterogeneity of achromatopsia, see 216900. Inheritance Achromatopsia-4 is an autosomal recessive disorder (Kohl et al., 2002). Molecular Genetics Kohl et al. (2002) reported 5 families with achromatopsia, with 4 showing homozygosity for protein-truncation mutations in the GNAT2 gene (139340.0001; 139340.0003-139340.0004).
- Achromatopsia GeneReviews
  
  The dysfunction of the L (red) and M (green) cones is caused by pathogenic variants leading to the loss of the X-linked red ( OPN1LW ) and green ( OPN1MW ) opsin gene array, hybrid gene formation and/or inactivating variants, or by deletions affecting the locus control region, a critical region that regulates the expression of the red/green ( OPN1LW/OPN1MW ) gene array. 3.
- Achromatopsia 7 OMIM
  
  A number sign (#) is used with this entry because of evidence that achromatopsia-7 (ACHM7) is caused by homozygous or compound heterozygous mutation in the ATF6 gene (605537) on chromosome 1q23. Description Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by Kohl et al., 2015). For a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (216900). Clinical Features Ansar et al. (2015) studied 2 sibs, their female cousin (the proband), and their nephew from a multiply consanguineous Pakistani family.
- Achromatopsia Orphanet
  
  A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. Epidemiology The prevalence is estimated to be 1/30,000-1/50,000 worldwide. Clinical description ACHM is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, and reduced or complete loss of color discrimination. Most individuals have complete ACHM, with total lack of function in all three types of cones. Rarely, individuals have incomplete ACHM, with similar, but generally less severe symptoms.
- Achromatopsia 2 OMIM
  
  A number sign (#) is used with this entry because of evidence that complete achromatopsia and some cases of incomplete achromatopsia are caused by homozygous or compound heterozygous mutation in the CNGA3 gene (600053), which encodes the alpha subunit of the cone photoreceptor cGMP-gated cation channel, on chromosome 2q11. Description Total colorblindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal recessive disorder characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colors. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent (summary by Kohl et al., 1998). Genetic Heterogeneity of Total Achromatopsia A form of achromatopsia previously designated achromatopsia-1 (ACHM1) was later found to be the same as achromatopsia-3 (ACHM3; 262300), caused by mutation in the CNGB3 gene (605080). ACHM4 (613856) is caused by mutation in the GNAT2 gene (139340); ACHM5 (613093) is caused by mutation in the PDE6C gene (600827); ACHM6 (see 610024) is caused by mutation in the PDE6H gene (601190); and ACHM7 (616517) is caused by mutation in the ATF6 gene (605537).
Kabuki Syndrome Wikipedia

Retrieved 2018-04-01 . ^ a b c d e f g h i j k l m "Kabuki syndrome" . Genetics Home Reference, U.S. ... S2CID 24533876 . ^ a b c d e f g Adam MP, Hudgins L, Hannibal M (16 May 2013). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.).

KMT2D, KDM6A, RAP1B, RAP1A, KMT2A, KMT2B, MKKS, MACROD2, ANOS1, HTC2, HNRNPK, MAPK1, MAP2K7, TUBA3D, CHD7, TERF2IP, FZR1, ANKRD11, RABGEF1, TNFRSF13B, ZFPM2, POGZ, KDM1A, SEPTIN9, GH1, MBD2, MYH6, POMC, XIST, UTY, EPHB2, TUBA3C, SOX3, SET, RBPJ, ITGB7, BRAF
- Kabuki Syndrome GeneReviews
  
  Summary Clinical characteristics. Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss. Diagnosis/testing. The diagnosis of KS is established in a proband of any age with a history of infantile hypotonia, developmental delay, and/or intellectual disability AND one or both of the following: Typical dysmorphic features (long palpebral fissures with eversion of the lateral third of the lower eyelid, and ≥2 of the following: arched and broad eyebrows with the lateral third displaying notching or sparseness; short columella with depressed nasal tip; large, prominent, or cupped ears; persistent fingertip pads) A heterozygous pathogenic variant in KMT2D or a heterozygous or hemizygous pathogenic variant in KDM6A Management. Treatment of manifestations: Thickened feedings and positioning after meals to treat gastroesophageal reflux; gastrostomy tube placement if feeding difficulties are severe.
- Kabuki Syndrome 2 OMIM
  
  A number sign (#) is used with this entry because of evidence that Kabuki syndrome-2 (KABUK2) is caused by mutation in the KDM6A gene (300128) on chromosome Xp11. Description Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (147920). Clinical Features Lederer et al. (2012) studied 2 girls and a boy with Kabuki syndrome. The 2-year-old boy and 13-year-old girl had a typical Kabuki syndrome phenotype, including long palpebral fissures, lateral eversion of the lower eyelid, and moderate to severe intellectual disability; they also displayed long halluces.
- Kabuki Syndrome 1 OMIM
  
  A number sign (#) is used with this entry because Kabuki syndrome-1 (KABUK1) is caused by heterozygous mutation in the MLL2 gene (KMT2D; 602113) on chromosome 12q13. Description Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic Heterogeneity Kabuki syndrome-2 (300867) is caused by mutation in the KDM6A gene (300128) on chromosome Xp11.3. Clinical Features Niikawa et al. (1988) collected data from 62 patients with Kabuki syndrome from 33 institutions, almost all of them in Japan. Most of the patients had 5 cardinal manifestations: (1) a peculiar face in all cases, characterized by eversion of the lower lateral eyelid, arched eyebrows with sparse or dispersed lateral one-third, depressed nasal tip, and prominent ears; (2) skeletal anomalies in 92%, including brachydactyly V and spinal deformity with or without sagittal cleft vertebrae; (3) dermatoglyphic abnormalities in 93%, including increased digital ulnar loop and hypothenar loop patterns, absence of the digital triradius c and/or d, and presence of fingertip pads; (4) mild to moderate mental retardation in 92%; and (5) postnatal growth deficiency in 83%.
- Kabuki Syndrome Orphanet
  
  A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, large prominent, cupped ears, depressed nasal tip and short columella). Various additional features are frequently observed. Epidemiology The prevalence of Kabuki syndrome (KS) is estimated at 1/32000 birth and seems a frequent etiology in malformed fetus. Clinical description Presentation is typically with neonatal/infantile hypotonia and feeding difficulties (affecting more than 70%). KS associates developmental delay and intellectual disability in 90% of patients. Intellectual disability is frequently mild to moderate; however, the spectrum ranges from normal intellect to severe disability.
- Kabuki Syndrome MedlinePlus
  
  Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows ; long eyelashes ; long openings of the eyelids (long palpebral fissures ) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose ; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater. People with Kabuki syndrome have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually small head size (microcephaly ), or weak muscle tone (hypotonia). Some have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).
- Kabuki Syndrome GARD
  
  Kabuki syndrome is a rare disorder that affects multiple parts of the body. It is present from birth. Specific symptoms and severity can vary. Features often include a characteristic facial appearance; skeletal abnormalities; short stature; heart defects; and intellectual disability. Other signs and symptoms may include seizures, microcephaly, weak muscle tone (hypotonia), eye problems, cleft palate, and dental problems. A variety of other health problems may also occur. Kabuki syndrome is most often caused by a mutation in the KMT2D gene, and inherited in an autosomal dominant manner. Some cases are due to a mutation in the KDM6A gene and are inherited in an X-linked dominant manner.
Eosinophilic Esophagitis Wikipedia

It is possible that long-standing, untreated disease may result in esophageal remodeling, leading to strictures, Schatzki ring and, eventually, achalasia. [7] History [ edit ] The first case of eosinophilic esophagitis was reported in 1978. [1] In the early 1990s, it became recognized as a distinct disease. [25] See also [ edit ] Eosinophilic gastroenteritis References [ edit ] ^ a b Gómez-Aldana A, Jaramillo-Santos M, Delgado A, Jaramillo C, Lúquez-Mindiola A (August 2019). ... S2CID 25180186 . ^ Nielsen JA, Lager DJ, Lewin M, Rendon G, Roberts CA (April 2014).

TSLP, CAPN14, TRIM8, TNK2, STAT6, JAZF1, EMSY, CCL26, IL13, IFFO2, HSF2BP, LINC02588, ANKRD27, CCDC81, MEAK7, SHROOM3, KIF17, IL5, CLEC16A, DCC, TIMP2, P2RX6, LINC02240, XKR6, CAPN5, CEP295NL, TGFB1, POSTN, FLG, TNF, DSG1, IL33, CCL11, FOXP3, ATP12A, ATP4A, IL4, IL6, IL15, EPC2, SPINK7, WDR36, CLDN7, CPA3, SIGLEC8, MID1, IL18, TNFSF10, SOAT1, EPX, CLDN1, DHTKD1, RNASE2, IL9, FFAR3, ALOX15, BDNF, IL18R1, COPD, LOC283710, IL32, IL1RL1, SLC9C2, SERPINA13P, MIR223, SPAG9, NR1I2, OGDHL, DEFB103A, FST, TNFRSF14, MIR375, EMBP1, BECN1, ABCB11, DEFB4B, BANCR, EOS, CBLL2, RSAD2, TRPV1, HBS1L, DEFB103B, CRLF2, ANO1, OXR1, SLC52A1, RHOF, TLR9, BCL11A, KLF13, CPA4, MUL1, LRRC31, CHIA, ACAD8, PANK2, MAPK8IP2, FIP1L1, SYNPO, PTGDR2, SERPINB12, SPINK5, REEP5, AGA, VCAM1, GFER, ESR2, F2RL1, FGF9, FKBP4, FKBP5, GABPA, LRRC32, GJA1, DNM1, GRM5, HIF1A, ICAM1, IFNG, IL1A, IL1B, IL5RA, ESR1, DEFB4A, TYK2, CD1D, ALOX5, ANXA5, CCND1, BID, BNIP3, CALB2, CAMP, CD44, CYP2C19, CEACAM8, CLC, CCR3, CCR8, ABCC2, COL8A2, CSF2, IL9R, IL15RA, ITGAM, CCL18, KLK6, PTGDR, PTGS2, RNASE3, S100A7, SAFB, CCL2, SGSH, KCNJ2, AGXT, SPRR3, STAT1, STC1, TFDP1, TLR3, TNFRSF4, KLK7, PRG2, PTPA, PLG, LALBA, LCT, LOX, LTC4S, SMAD2, KITLG, MIF, MMP2, MMP14, MPG, MYB, NFE2L2, SLC22A18, OSM, PRKN, SLC9A3
- Esophagitis, Eosinophilic, 2 OMIM
  
  For a general phenotypic description and a discussion of genetic heterogeneity of eosinophilic esophagitis, see EOE1 (610247). Mapping Rothenberg et al. (2010) genotyped approximately 550,000 genomewide SNPs in a discovery cohort of 181 eosinophilic esophagitis (EOE) cases and 1,974 controls and a replication cohort of 170 EOE cases and 1,130 controls. Significant association was found with variants at a region on chromosome 5q22 encompassing the TSLP (607003) and WDR36 (609669) genes (combined p = 3.19 x 10(-9) for rs3806932). Analysis of esophageal biopsies revealed that TSLP was significantly overexpressed in EOE cases compared to controls (p less than 0.0001 for TSLP isoform 2), whereas WDR36 was unchanged. TSLP expression levels were also significantly correlated with the rs3806932 genotype in EOE cases, with homozygote carriers of the protective minor G allele showing less TSLP expression than heterozygotes or homozygotes for the ancestral allele.
- Eosinophilic Esophagitis Mayo Clinic
  
  Overview Eosinophilic esophagitis (e-o-sin-o-FILL-ik uh-sof-uh-JIE-tis) is a chronic immune system disease. With this disease, a type of white blood cell, called an eosinophil, builds up in the lining of the tube that connects your mouth to your stomach. This tube is also called the esophagus. This buildup, which is a reaction to foods, allergens or acid reflux, can inflame or injure the esophageal tissue. Damaged esophageal tissue can lead to difficulty swallowing or cause food to get stuck when you swallow. Eosinophilic esophagitis has been identified only since the early '90s, but is now considered a major cause of digestive system illness.
- Eosinophilic Esophagitis Orphanet
  
  A rare chronic, local immune-mediated disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including, dysphagia, feeding disorders, food impaction, vomiting and abdominal pain) and histologically by eosinophil-predominant inflammation in esophageal biopsies. Epidemiology Prevalence in adults is estimated at 1/2,370 and in children 1/2,900 in Europe and North America; however, a steady rise in incidence and prevalence is observed. Males are predominantly affected (male/female ratio being 2.5). Clinical description Most cases of eosinophilic esophagitis (EoE) present in children and young adults, but it may occur at any age. Infants and toddlers manifest with food refusal, vomiting, choking with meals and in rare cases, failure to thrive. School-aged children most commonly present with dysphagia, choking/gagging with meals, food impactions and, less commonly, regurgitation, vomiting, and chest/abdominal pain.
- Esophagitis, Eosinophilic, 1 OMIM
  
  Description Eosinophilic esophagitis (EOE) has an incidence of approximately 1 per 10,000 people. Symptoms include difficulty feeding, failure to thrive, vomiting, epigastric or chest pain, dysphagia, and food impaction. Individuals with EOE are predominantly young males with a high rate of atopic disease, and the diagnosis is made by endoscopy and biopsy findings of isolated eosinophils in the esophagus (summary by Rothenberg et al., 2010). Genetic Heterogeneity of Eosinophilic Esophagitis Eosinophilic esophagitis-1 (EOE1) is associated with variation at chromosome 7q11.2. Another locus (EOE2; 613412) has been been associated with variation in the TSLP gene (607003) on chromosome 5q22.
Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities OMIM

However, patient cells showed cell cycle abnormalities, including increased percentage of G2/M cells and upregulation of genes involved in cell division, mitotic regulation, and DNA replication compared to controls.
Thrombotic Microangiopathy Wikipedia

PMID 16760911 . ^ Ruggenenti P, Noris M, Remuzzi G (September 2001). "Thrombotic microangiopathy, hemolytic uremic syndrome, and thrombotic thrombocytopenic purpura".

ADAMTS13, VEGFA, C3, NOS3, NOS2, CFH, VWF, CD46, HP, SERPINE1, CFHR1, THBD, F5, CABIN1, DGKE, IL6, STX2, F2, C5, PLG, NT5C1A, CFI, PTX3, REN, C20orf181, ERVK-6, CLEC1B, TWNK, ZFP36, GP6, KLF4, KLF2, TNFSF13B, CFHR3, PDGFC, SH3BP4, POLG, BCR, PIK3CB, PIGA, C5AR1, CAPG, CD59, CPB2, CRP, SLC25A10, CD55, F3, F8, FGG, MTOR, GPI, HLA-DRB1, HMOX1, IFNA1, IFNA13, IFNB1, KDR, KRT5, LCN2, MTHFR, ERVK-32
Portal Vein Thrombosis Wikipedia

PMID 31895720 . ^ Hall TC, Garcea G, Metcalfe M, Bilku D, Dennison AR (November 2011).

JAK2, MPL, SERPINC1, PIGM, MET, CTNNB1, F2, TET2, F5, AFP, MTHFR, SERPINE1, ALB, SELP, SLC17A5, VEGFA, COX8A, MIR21, PROS1, SH2B2, AKAP1, VWF, ADAMTS13, ABL1, SMUG1, RPL36, ACAD8, NAAA, GOLM1, ZNF469, MIRLET7C, MIR195, MIR27B, MIR31, LNCRNA-ATB, GP6, MYH9, ADAM17, PVR, APC, KLK3, ARG1, BCS1L, CALR, CDKN2A, CHI3L1, CRP, F2R, F3, F8, F10, FAH, GPT, IGF1R, IL6, LPA, NEK2, PC, H3P10
- Primitive Portal Vein Thrombosis Orphanet
  
  Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system. Epidemiology Prevalence of the primary form (PVT not associated with cirrhosis or a tumour) is estimated at between 1 and 9/100,000. PVT may occur at any age. Clinical description Acute thrombosis may be asymptomatic or may manifest as abdominal pain, fever and intestinal ischemia (ileus, rectal bleeding, and ascites). In some cases, intestinal necrosis (manifesting as peritonitis and multivisceral failure) may occur if treatment is delayed. Chronic PVT is associated with cavernous transformation resulting in portal hypertension.
Ovarian Vein Syndrome Wikipedia

History [ edit ] The entity was first described by Clark in 1964. [8] Following initial scepticism and lively discussion in the medical literature, [9] [10] it is now recognised by many authors. [1] References [ edit ] ^ a b Tourné G, Ducroux A, Bourbon M, Blinding H (September 2002). "The ovarian vein syndrome: eight cases and review of the literature" .
Hydrosalpinx Wikipedia

PMID: 10231034. ^ Ducarme, G; Uzan, M; Hugues, J; Cedrindurnerin, I; Poncelet, C (October 2006).

HOXA10, CFTR, TNF, TAP1, STING1, SEC14L2, MSLN, VEGFA, TLR3, SGK1, FLT1, NOS2, MUC1, MCL1, KDR, IL6, HOXA11, MIR133B
Vertebrobasilar Insufficiency Wikipedia

.; Brown, D. L.; Lisabeth, L. D.; Smith, M. A.; Morgenstern, L. B. (2006). "Stroke among patients with dizziness, vertigo, and imbalance in the emergency department: A population-based study" .

EMD, GCY
Tic Disorder Wikipedia

Retrieved on December 29, 2011. ^ Moran, M. "DSM-5 provides new take on neurodevelopment disorders".

DRD4, SLC6A3, CD24, PROM1, CD44, SIX1, STAT3, VIM, BECN1, HCN4, SQSTM1, PRKCI, GNA13, HRH3, PNKD, TPH2, MAP2K7, ADAM10, PPARG, ADRA2A, NFATC2, KCNE1, INS, HSPD1, F10, EZH2, ENO2, ECT2, BRCA1, BLM, ATP7B, ALDH1A1, NOS2
Aniridia Wikipedia

Retrieved 2 February 2010 . ^ Lee H, Khan R, O'Keefe M (November 2008). "Aniridia: current pathology and management".

PAX6, TRIM44, WT1, FOXC1, ELP4, FOXD3, PITX2, FOXE3, MDH2, SDHA, SDHAF2, REST, RET, KIF1B, SDHB, MAX, SDHC, SDHD, POU6F2, TRIM28, VHL, WNT10B, SEM1, MAFB, SLC25A11, TP63, TRIP13, BTRC, PORCN, COL25A1, DLX5, DLX6, CHN1, FAM111A, EPS15L1, FH, GPC3, BRCA2, DIS3L2, LDHD, H19, TMEM127, ITPR1, DLST, CAT, DEL11P13, ACP1, CYP1B1, PAX3, HRAS, LGR4, SLURP1, DCPS, PHF21A, WT1-AS, RN7SL263P, KIF21A, RIEG2, RASSF7, CXCL8, ALDH1A1, APOB, ARSD, ATP2A2, BCR, CTNNB1, EGF, SERPINB1, FGF2, MTOR, KRT12, VEGFA, NOTCH1, NRAS, GPR143, OCA2, SIX6, OTX2, PAX2, ADH7, CCL3, NR2E1, DEL11P13
- Aniridia 3 OMIM
  
  A number sign (#) is used with this entry because of evidence that aniridia-3 (AN3) is caused by heterozygous mutation in the TRIM44 gene (612298) on chromosome 11p13. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of aniridia, see AN1 (106210). Clinical Features Zhang et al. (2015) studied a 4-generation Chinese family in which 8 patients had aniridia without systemic abnormalities. The patients ranged in age from 7 to 55 years, and all had complete bilateral defects of the iris. Visual acuity gradually decreased over time due to the irregular lens opacity caused by lack of iris block and direct exposure to the sun.
- Aniridia 2 OMIM
  
  A number sign (#) is used with this entry because of evidence that aniridia-2 (AN2) is caused by heterozygous mutation in a PAX6 (607108) cis-regulatory element (SIMO) that resides in an intron of the adjacent ELP4 gene (606985) on chromosome 11p13. One such patient has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of aniridia, see AN1 (106210). Clinical Features Bhatia et al. (2013) studied a 17-year-old boy with aniridia who was diagnosed at 2 years of age with bilateral iris hypoplasia. Renal ultrasound, audiometric examination, and neurologic evaluation were normal, as were physical and psychomotor development. At 17 years of age, his bilateral aniridia was confirmed, and slit-lamp examination showed peripheral cataracts in both lenses.
- Aniridia 1 OMIM
  
  A number sign (#) is used with this entry because of evidence that aniridia-1 (AN1) is caused by heterozygous mutation in the PAX6 gene (607108) on chromosome 11p13. Description Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (summary by Jordan et al., 1992). Genetic Heterogeneity of Aniridia There is also evidence that aniridia-2 (AN2) is caused by mutation in a PAX6 cis-regulatory element (SIMO) that resides in an intron of the adjacent ELP4 gene (606985), and that aniridia-3 (AN3) is caused by mutation in the TRIM44 gene (612298) on chromosome 11p13.
- Aniridia GARD
  
  Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris) and is usually associated with foveal hypoplasia (underdevelopment of the part of the eye responsible for sharp central vision). This combination can lead to decreased visual acuity and involuntary eye movements (nystagmus) in affected infants. People with aniridia may also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), and abnormalities of the cornea. Many of these eye problems contribute to progressive vision loss in affected individuals. Occasionally, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.
- Isolated Aniridia Orphanet
  
  Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris. Epidemiology The annual incidence is estimated at 1/ 64,000- 1/ 96,000. Clinical description Isolated aniridia can occur in association with a range of other ocular anomalies including cataract, glaucoma (usually occurring during adolescence), corneal pannus, optic nerve hypoplasia, absence of macular reflex, ectopia lentis, nystagmus, and photophobia, all of which generally result in poor vision. Etiology Aniridia is due to mutations in the PAX6 gene (11p13) encoding a transcriptional regulator involved in oculogenesis. PAX6 mutations result in alterations in corneal cytokeratin expression, cell adhesion and glycoconjugate expression.
Persistent Genital Arousal Disorder Wikipedia

CS1 maint: uses authors parameter ( link ) ^ a b c d e f g h i j k l m n o p q r Brian A. Sharpless (2016).
- Persistent Genital Arousal Disorder GARD
  
  Persistent genital arousal disorder (PGAD) in men may be considered as the condition of priapism and unwanted ejaculatory fluids being released without any sexual interest. In women there is still no consensus about a formal definition, but some of the experts propose that in women it should be defined as a rare, unwanted, and intrusive sexual dysfunction associated with excessive and unremitting genital arousal and engorgement in the absence of sexual interest. The persistent genital arousal usually does not resolve with orgasm and causes personal distress. Features include excessive excitement or excessive genital (lubrication, swelling, and engorgement) or other somatic responses. Causes may be neurological (central or peripheral involving the pudendal nerve), related to medication, vascular, hormonal, psychological or others.
Genital Trauma Wikipedia

PMID 17073065 . ^ a b c d e f g Frioux, Sarah M.; Blinman, Thane; Christian, Cindy W.
Abortion In South Africa Wikipedia

In 2001, 27% of abortions were second-trimester. [7] See also [ edit ] Abortion by country Abortion debate Abortion law Law of persons in South Africa Religion and abortion Choice on Termination of Pregnancy Act, 1996 History of Abortion Law Debate Birth control in Africa Literature [ edit ] Susanne M. Klausen: Abortion under Apartheid .
Atrophic Vaginitis Wikipedia

Few adverse effects were noted. [1] In 2018, the FDA issued a warning that lasers and other high energy devices were not approved for this application and it had received multiple reports of injuries. [11] References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag Faubion, SS; Sood, R; Kapoor, E (December 2017).

ERCC8, CSH1, CSH2, CYP19A1, HSPA9
Progressive Bulbar Palsy Wikipedia

Progressive Bulbar Palsy. ‘’The Treatment of Diseases of the Nervous System: A Manual for Practitioners’’. W. Wood and Company. (1900) Swash M, and Desai J. Motor Neuron Disease: Classification and nomenclature.

SLC52A3, IGFALS, SOD1, CSF2, GSTP1, LAMC2, GAL3ST1, SLC35A1, CASZ1, CST12P
- Progressive Bulbar Palsy GARD
  
  Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.
Penile Fracture Wikipedia

Peitzman; Michael Rhodes; C. William Schwab; Donald M Yealy; Timothy C Fabian (1 September 2007).
Hemopericardium Wikipedia

. ^ Gray's Anatomy, 1902 ed. [ page needed ] ^ a b c d e f g h i j k l m n o p Levis, Joel T.; Delgado, Mucio C. (2009).

PLAT, PTGS2
Brief Psychotic Disorder Wikipedia

. ^ Chang, Kiki; Frankovich, Jennifer; Cooperstock, Michael; Cunningham, Madeleine W.; Latimer, M. Elizabeth; Murphy, Tanya K.; Pasternack, Mark; Thienemann, Margo; Williams, Kyle (2014-10-17).

AVP, BDNF, DRD5, GRIN1, NR3C1, HTR1B, HTR2A, NTRK1, PVALB, SNAP25, SELENBP1, RBM12, CPLX2, CPLX1
Rhotacism (Speech Impediment) Wikipedia

Lambdacism , the equivalent condition with L / l / Perception of English /r/ and /l/ by Japanese speakers References [ edit ] ^ Stinchfield, Sara M (1933). Speech Disorders: A PSYCHOLOGICAL STUDY of the Various Defects of Speech .