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Restrictive Cardiomyopathy
Wikipedia
Causes [ edit ] RCM can be caused by genetic or non-genetic factors. [4] [5] [6] Thus it is possible to divide the causes into primary and secondary. [7] The common modern organization is into Infiltrative , storage diseases , non-infiltrative , and endomyocardial etiologies: [8] Infiltrative Amyloidosis Sarcoidosis Primary hyperoxaluria Storage diseases Fabry disease Gaucher disease Hereditary hemochromatosis Glycogen storage disease Mucopolysaccharidosis type I (Hurler syndrome) Mucopolysaccharidosis type II (Hunter syndrome) Niemann-Pick disease Non-infiltrative Idiopathic Diabetic cardiomyopathy Scleroderma Myofibrillar myopathies Pseudoxanthoma elasticum Sarcomeric protein disorders Werner's syndrome Endomyocardial Carcinoid heart disease Endomyocardial fibrosis Idiopathic Hypereosinophilic syndrome Chronic eosinophilic leukemia Drugs (serotonin, methysergide, ergotamine, mercurial agents, busulfan) Endocardial fibroelastosis Consequence of cancer or cancer therapy Metastatic cancer Drugs (anthracyclines) Radiation The most common cause of restrictive cardiomyopathy is amyloidosis . [3] Mechanism [ edit ] Rhythmicity and contractility of the heart may be normal, but the stiff walls of the heart chambers ( atria and ventricles ) keep them from adequately filling, reducing preload and end-diastolic volume . ... External links [ edit ] Classification D ICD - 10 : I42.5 ICD - 9-CM : 425.4 MeSH : D002313 DiseasesDB : 11390 External resources MedlinePlus : 000189 eMedicine : med/291 Overview at Merck Manual v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever
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Peliosis Hepatis
Wikipedia
External links [ edit ] Classification D ICD - 10 : K76.4 MeSH : D010382 v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum v t e Cystic diseases Respiratory system Langerhans cell histiocytosis Lymphangioleiomyomatosis Cystic bronchiectasis Skin stratified squamous: follicular infundibulum Epidermoid cyst and Proliferating epidermoid cyst Milia Eruptive vellus hair cyst outer root sheath Trichilemmal cyst and Pilar cyst and Proliferating trichilemmal cyst and Malignant trichilemmal cyst sebaceous duct Steatocystoma multiplex and Steatocystoma simplex Keratocyst nonstratified squamous: Cutaneous ciliated cyst Hidrocystoma no epithelium: Pseudocyst of the auricle Mucocele other and ungrouped: Cutaneous columnar cyst Keratin implantation cyst Verrucous cyst Adenoid cystic carcinoma Breast cyst Human musculoskeletal system Cystic hygroma Human digestive system oral cavity: Cysts of the jaws Odontogenic cyst Periapical cyst Dentigerous cyst Odontogenic keratocyst Nasopalatine duct cyst liver: Polycystic liver disease Congenital hepatic fibrosis Peliosis hepatis bile duct: Biliary hamartomas Caroli disease Choledochal cysts Bile duct hamartoma Nervous system Cystic leukoencephalopathy Genitourinary system Polycystic kidney disease Autosomal dominant polycystic kidney Autosomal recessive polycystic kidney Medullary cystic kidney disease Nephronophthisis Congenital cystic dysplasia Other conditions Hydatid cyst Von Hippel–Lindau disease Tuberous sclerosis
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Portal Hypertensive Gastropathy
Wikipedia
External links [ edit ] Classification D ICD - 9-CM : 537.89 v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum
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Anorectal Abscess
Wikipedia
External links [ edit ] Classification D ICD - 10 : K61.0 ICD - 9-CM : 566 DiseasesDB : 32048 External resources MedlinePlus : 001519 eMedicine : med/2733 emerg/494 v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum
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Deafblindness
Wikipedia
In any given case of deafblindness, there are many possible onsets and causes of this condition, some happen gradually, others happen unexpectedly and suddenly. [9] The diagnosis of deafblindness could be medically classified into specific types based on one’s symptoms and causes. [4] There are two overarching types of deafblindness: congenital and acquired. [9] [10] : 36–74 Congenital deafblindness : the condition of deafblindness from birth Pregnancy complexities [10] : 50–67 Effects of alcohol/drugs Fetal alcohol syndrome A result of prematurity Causes from illness/infection Rubella AIDS Cytomegalovirus Syphilis Toxoplasmosis Genetic conditions (evident from birth) [8] [10] : 37–49 Anomalies/syndromes (there are numerous genetic defects that may contribute to one's medical condition of deafblindness, of which some of more well-known syndromes are listed) CHARGE syndrome Down syndrome Marshall syndrome Rubella syndrome Stickler syndrome Trisomy 13 Acquired deafblindnness : condition of deafblindness developmental later in life Genetic conditions (evident at a later stage in life) [10] : 37–49 Usher syndrome Alport syndrome Age-related loss of modality (vision or auditory or both) [11] Illness Meningitis Somatic injuries [10] : 68- 74 Brain damage / trauma Stroke Permanent physical damage (relating to vision or hearing) Communication [ edit ] Deafblind people communicate in many different ways as determined by the nature of their condition, the age of onset, and what resources are available to them. ... Retrieved 2018-03-27 . ^ a b "Conditions/Syndromes | Deafblind Information" . Deafblindness Support Services . ... "Haben Girma Homepage" About Haben Girma, the first deafblind Harvard Law School graduate. v t e Disorders of hearing and balance Hearing Symptoms Hearing loss Excessive response Tinnitus Hyperacusis Phonophobia Disease Loss Conductive hearing loss Otosclerosis Superior canal dehiscence Sensorineural hearing loss Presbycusis Cortical deafness Nonsyndromic deafness Other Deafblindness Wolfram syndrome Usher syndrome Auditory processing disorder Spatial hearing loss Tests Hearing test Rinne test Tone decay test Weber test Audiometry pure tone visual reinforcement Balance Symptoms Vertigo nystagmus Disease Balance disorder Peripheral Ménière's disease Benign paroxysmal positional vertigo Labyrinthitis Labyrinthine fistula Tests Dix–Hallpike test Unterberger test Romberg's test Vestibulo–ocular reflex
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Short Stature, Idiopathic, X-Linked
Omim
Mapping Ballabio et al. (1989) did an extensive study of 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome. The patients had various syndromes as isolated entities or associated in various combinations as contiguous gene syndromes. ... One of their patients had the XXY chromosome constitution of Kallmann syndrome (308700), associated with an X/Y translocation and a presumed deletion in PAR of both Xp and Yp. Rather than the usual increase in height of Kallmann syndrome, the patient was 155 cm tall. Furthermore, both affected males and heterozygous females with terminal deletions of Xp displayed short stature. ... Ellison et al. (1996, 1997) named the gene PHOG for 'pseudoautosomal homeobox-containing osteogenic gene'. Turner syndrome is presumably the result of haploinsufficiency of certain genes on the X chromosome. ... Genes in the PAR that are dosage sensitive probably contribute to the short stature observed in Turner syndrome.
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Congenital Hepatic Fibrosis
Medlineplus
More frequently, it occurs as a feature of genetic syndromes that also affect the kidneys, such as polycystic kidney disease (PKD). ... Its prevalence is unknown. The total prevalence of syndromes that include congenital hepatic fibrosis as a feature is estimated to be 1 in 10,000 to 20,000 individuals. Causes Syndromes that include congenital hepatic fibrosis may be caused by changes in many different genes. ... Inheritance Pattern The various syndromes that include congenital hepatic fibrosis can have different inheritance patterns. ... The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Rare syndromes involving congenital hepatic fibrosis may be inherited in an X-linked recessive pattern , in which the gene associated with the syndrome is located on the X chromosome, which is one of the two sex chromosomes.PKHD1, DZIP1L, IFT88, AQP1, CFTR, SLC4A2, PKD1, EGFR, NPHP3, SRC, CDC25A, AKT1, CYS1, TSC1, MTOR, TMEM67, ARL3, NEK1, PANX1, PIK3CA, BICC1, NEK8, SCLT1, CYP4A22, ACE, ELN, PKD2, MIR1225, PRKD1, TSC2, HNF1B, P2RX6, P2RX2, PKHD1L1, P2RX5-TAX1BP3, P2RY2, P2RX1, P2RY1, P2RX7, P2RX5, P2RX3, P2RX4, AFP, GSTA1, VANGL2, MCM3, SMAD3, EGF, EPHA3, MEP1A, ATN1, CASR, AVPR2, APOE, PACC1, ATMIN, NEDD4, SCRIB, DAAM2, PXN, CEP164, PKD2L1, ARID1A, UMOD, TST, STATH, PCNA, PRPH2, ACTB
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Brachydactyly, Type E1
Omim
Also see the hypertension and brachydactyly syndrome (112410). Clinical Features In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. ... This phenotype occurs with a chromosomal aberration, the XO Turner syndrome. Also see brachydactyly-nystagmus-cerebellar ataxia (Biemond syndrome I), a probable dominant trait. Poznanski et al. (1977) concluded that 'brachydactyly E is indistinguishable radiologically from the PHP-PPHP syndrome'. Newcombe and Keats (1969) described an extensively affected kindred with a dominant pedigree pattern (their pedigree II) as having peripheral dysostosis. ... It is possible that these patients suffered from a contiguous gene syndrome involving the locus for brachydactyly type E and one or more other loci. ... Limbs - Brachydactyly - Short metacarpals - Variable short metatarsals Radiology - Radiologically indistinguishable from the PHP-PPHP syndrome Facies - Round facies Inheritance - Autosomal dominant Skel - Straight and short clavicles Growth - Moderately short stature Teeth - Multiple impacted teeth ▲ Close
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Mutyh-Associated Polyposis
Wikipedia
MUTYH-associated polyposis Other names MYH-associated polyposis Specialty Medical genetics , gastroenterology Complications Colorectal cancer Causes DNA repair gene mutation Diagnostic method Colonoscopy Differential diagnosis Familial adenomatous polyposis , Lynch syndrome Treatment Colonoscopy Polypectomy Frequency <1% MUTYH-associated polyposis (also known as MYH-associated polyposis) is an autosomal recessive polyposis syndrome. [1] The disorder is caused by mutations in both alleles (genetic copies) of the DNA repair gene, MUTYH . ... About 1–2 percent of the population possess a mutated copy of the MUTYH gene, and less than 1 percent of people have the MUTYH associated polyposis syndrome. The presence of 10 or more colon adenomas should prompt consideration of MUTYH-associated polyposis, familial adenomatous polyposis and similar syndromes. [2] Epidemiology [ edit ] Without surveillance or screening, between 43% and 100% of individuals with MUTYH-associated polyposis develop colorectal cancer. [3] References [ edit ] ^ Tomlinson, Ian (April 2015). "An update on the molecular pathology of the intestinal polyposis syndromes" . Diagnostic Histopathology . 21 (4): 147–151. doi : 10.1016/j.mpdhp.2015.04.006 . ^ Gupta, S; Provenzale, D; Llor, X; Halverson, AL; Grady, W; Chung, DC; Haraldsdottir, S; Markowitz, AJ; Slavin TP, Jr; Hampel, H; CGC.; Ness, RM; Weiss, JM; Ahnen, DJ; Chen, LM; Cooper, G; Early, DS; Giardiello, FM; Hall, MJ; Hamilton, SR; Kanth, P; Klapman, JB; Lazenby, AJ; Lynch, PM; Mayer, RJ; Mikkelson, J; CGC.; Peter, S; Regenbogen, SE; Dwyer, MA; CGC.; Ogba, N (1 September 2019). ... GeneReviews. v t e Digestive system neoplasia GI tract Upper Esophagus Squamous cell carcinoma Adenocarcinoma Stomach Gastric carcinoma Signet ring cell carcinoma Gastric lymphoma MALT lymphoma Linitis plastica Lower Small intestine Duodenal cancer Adenocarcinoma Appendix Carcinoid Pseudomyxoma peritonei Colon/rectum Colorectal polyp : adenoma , hyperplastic , juvenile , sessile serrated adenoma , traditional serrated adenoma , Peutz–Jeghers Cronkhite–Canada Polyposis syndromes: Juvenile MUTYH-associated Familial adenomatous / Gardner's Polymerase proofreading-associated Serrated polyposis Neoplasm: Adenocarcinoma Familial adenomatous polyposis Hereditary nonpolyposis colorectal cancer Anus Squamous cell carcinoma Upper and/or lower Gastrointestinal stromal tumor Krukenberg tumor (metastatic) Accessory Liver malignant : Hepatocellular carcinoma Fibrolamellar Hepatoblastoma benign : Hepatocellular adenoma Cavernous hemangioma hyperplasia : Focal nodular hyperplasia Nodular regenerative hyperplasia Biliary tract bile duct : Cholangiocarcinoma Klatskin tumor gallbladder : Gallbladder cancer Pancreas exocrine pancreas : Adenocarcinoma Pancreatic ductal carcinoma cystic neoplasms : Serous microcystic adenoma Intraductal papillary mucinous neoplasm Mucinous cystic neoplasm Solid pseudopapillary neoplasm Pancreatoblastoma Peritoneum Primary peritoneal carcinoma Peritoneal mesothelioma Desmoplastic small round cell tumorMUTYH, APC, SGSM3, FAP, KRAS, NTHL1, TNF, IFNG, AFAP1, MSH6, IL10, CTNNB1, FN1, HRAS, CHRM3, TSPO, BRAF, NOD2, TLR2, CNPY2, SELENBP1, TNFSF13, TLR1, PIP5K1C, TBCA, MTCO2P12, SLC11A1, SHBG, CORO1A, ACAD8, GREM1, LAMP3, PERCC1, MIR27A, NTM, TNFRSF12A, S100A8, CCHCR1, SLC30A10, PRDM10, SLC30A8, ERVK-6, CCL2, ANGPT2, MAPK3, LAMP1, BGLAP, VPS51, CAMP, CSF2, DAG1, HLA-DRB3, HSPD1, IFNB1, IL6, CXCL8, INS, IRF5, LAMC2, POLE, LIG4, LPO, LSAMP, MBP, MOG, MRC1, MSH2, MTAP, COX2, MYLK, NRAS, POLD1, ERVK-32
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Non-Immune Hydrops Fetalis
Orphanet
Mothers may develop massive anasarca, hypertension, and proteinuria (mirror syndrome). Death of fetus is usually due to heart failure and hypoxia. ... Causes can be: cardiovascular (21.7%; Ebstein malformation, tetralogy of Fallot), hematologic (10.4%; Hb Bart's HF), chromosomal (13.4%; Turner syndrome) and more rarely: infectious (TORCHES-CLAP ( Toxoplasma gondii ; Rubella virus; Cytomegalovirus; Herpes simplex virus ; Enterovirus; Syphilis; Chickenpox virus; Lyme disease; Aids; Parvovirus B19)), syndromic (Costello syndrome, Meckel syndrome, thanatophoric dysplasia) or idiopathic. ... Differential diagnosis The many disorders associated with HF are differential diagnoses such as neonatal hemochromatosis, twin-to-twin transfusion syndrome, congestive heart failure, hepatitis B, hypercalcemia, hypernatremia, hypothrombinemia, hypothyroidism and diabetes (in mother).ALG1, PMM2, THSD1, HBA2, ASAH1, HBA1, CCBE1, PIEZO1, GUSB, EPHB4, NEU1, AARS2, GBA, C1orf105, MYOM1, FZD6, UROS, TMEM151B, CARS2, GALNT14, CTSA, UBN1, PIGC, CHRNA1, NEB, COL1A1, LBR, COL1A2, CYP21A2, GATA1, SOX18, ACKR3, ADRA1A, COG6, ALG8, MIR195, ALG9, RPS19, CXCR6, CALCRL, LPAR2, THBS1, SSTR4, ADRA2B, RASA1, MGAT2, GPR42, EDNRA, BRS3, AFP, LOC111674464
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Congenital Tufting Enteropathy
Orphanet
Although most children present with isolated diarrhea, a small number of congenital tufting enteropathy (CTE) patients present with a syndromic form where diarrhea is associated with non-specific punctuated keratitis, and various malformations such as choanal atresia, esophageal atresia, imperforate anus, dysmorphic features, skeletal dysplasia, and (in one case) Dubowitz syndrome. ... Mutations in the SPINT2 gene (19q13.2) are seen in 21% of CTE cases which are clinically characterized by the syndromic form of the disease. Rarely, CTE patients may present with isolated diarrhea but have no mutations in either EPCAM or SPINT2 . ... When not all criteria are obvious one can be helped by the association of the non-syndromic form of the disease with negative EpCAM immunostaining on patient's duodenal biopsies; or conversely in case of the syndromic form of the disease with a normal EpCAM immunostaining. ... Differential diagnosis The differential diagnosis primarily includes other protracted congenital diarrhea disorders such as microvillus inclusion disease, congenital chloride diarrhea, congenital sodium diarrhea, and syndromic diarrhea, as well as glucose-galactose malabsorption.
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Cushing Syndrome Due To Ectopic Acth Secretion
Orphanet
Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor. ... Specific signs depend of the causative tumor (paroxystic hypertension in pheochromocytoma, flush or diarrhea in medullary thyroid carcinoma, carcinoid syndrome in metastatic carcinoid tumors; see these terms).
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Distal Intestinal Obstruction Syndrome
Wikipedia
Distal intestinal obstruction syndrome Small intestine(at center) Distal intestinal obstruction syndrome ( DIOS ) involves obstruction of the distal part of the small intestines by thickened intestinal content and occurs in about 20% of mainly adult individuals with cystic fibrosis . [1] DIOS was previously known as meconium ileus equivalent , a name which highlights its similarity to the intestinal obstruction seen in newborn infants with cystic fibrosis. [2] DIOS tends to occur in older individuals with pancreatic insufficiency . ... External links [ edit ] http://www.cfmedicine.com/htmldocs/CFText/dios.htm http://www.rbht.nhs.uk/healthprofessionals/clinical-departments/cystic-fibrosis/clinical-guidelines/nutritional-and-gastrointestinal-care/constipation-and-distal-intestinal-obstructive-syndrome/
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Gfer Syndrome
Wikipedia
Rare disease GFER syndrome GFER syndrome is inherited via autosomal recessive manner Symptoms Congenital cataracts, loss of motor abilities, development delay, degeneration of organs, sometimes hearing loss Causes Caused by a mutation in the nuclear GFER gene GFER Syndrome (also called GFER disease ) is a rare mitochondrial disease .
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Abandoned Child Syndrome
Wikipedia
Abandoned child syndrome Specialty Psychiatry Abandoned child syndrome is a proposed behavioral or psychological condition that results primarily from the loss of one or both parents , or sexual abuse. Abandonment may be physical (the parent is not present in the child's life) or emotional (the parent withholds affection, nurturing, or stimulation). [1] The abandoned child syndrome is not recognized as a mental disorder in any of the medical manuals, such as the ICD-10 [2] or the DSM-IV , [3] neither is it part of the proposed revision of this manual, the DSM-5 . [4] Parents who leave their children, or when a parent is alienated from their children by the other parent (after a bitter divorce, DCHS [ clarification needed ] , foster care), can cause psychological damage to the child.
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Parasitic Pneumonia
Wikipedia
. ^ J17.3 v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis v t e Pneumonia Infectious pneumonias Bacterial pneumonia Viral pneumonia Fungal pneumonia Parasitic pneumonia Atypical pneumonia Community-acquired pneumonia Healthcare-associated pneumonia Hospital-acquired pneumonia Ventilator-associated pneumonia Severe acute respiratory syndrome Pneumonias caused by infectious or noninfectious agents Aspiration pneumonia Lipid pneumonia Eosinophilic pneumonia Bronchiolitis obliterans organizing pneumonia Noninfectious pneumonia Chemical pneumonitis Idiopathic pneumonia syndrome
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You-Hoover-Fong Syndrome
Omim
A number sign (#) is used with this entry because of evidence that You-Hoover-Fong syndrome (YHFS) is caused by compound heterozygous mutation in the TELO2 gene (611140) on chromosome 16p13. ... Inheritance The transmission pattern of You-Hoover-Fong syndrome in the families reported by You et al. (2016) was consistent with autosomal recessive inheritance. Molecular Genetics In 6 patients from 4 unrelated families with You-Hoover-Fong syndrome, You et al. (2016) identified compound heterozygous mutations in the TELO2 gene (611140.0001-611140.0006).
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Angiopathy
Wikipedia
Damage to nerve cells may cause peripheral neuropathy , and to kidney cells, diabetic kidney disease (Kimmelstiel-Wilson syndrome). By condition [ edit ] It is also possible to classify angiopathy by the associated condition: Diabetic angiopathy Cerebral amyloid angiopathy References [ edit ] ^ " angiopathy " at Dorland's Medical Dictionary v t e Cardiovascular disease (vessels) Arteries , arterioles and capillaries Inflammation Arteritis Aortitis Buerger's disease Peripheral artery disease Arteriosclerosis Atherosclerosis Foam cell Fatty streak Atheroma Intermittent claudication Critical limb ischemia Monckeberg's arteriosclerosis Arteriolosclerosis Hyaline Hyperplastic Cholesterol LDL Oxycholesterol Trans fat Stenosis Carotid artery stenosis Renal artery stenosis Other Aortoiliac occlusive disease Degos disease Erythromelalgia Fibromuscular dysplasia Raynaud's phenomenon Aneurysm / dissection / pseudoaneurysm torso : Aortic aneurysm Abdominal aortic aneurysm Thoracic aortic aneurysm Aneurysm of sinus of Valsalva Aortic dissection Aortic rupture Coronary artery aneurysm head / neck Intracranial aneurysm Intracranial berry aneurysm Carotid artery dissection Vertebral artery dissection Familial aortic dissection Vascular malformation Arteriovenous fistula Arteriovenous malformation Telangiectasia Hereditary hemorrhagic telangiectasia Vascular nevus Cherry hemangioma Halo nevus Spider angioma Veins Inflammation Phlebitis Venous thrombosis / Thrombophlebitis primarily lower limb Deep vein thrombosis abdomen Hepatic veno-occlusive disease Budd–Chiari syndrome May–Thurner syndrome Portal vein thrombosis Renal vein thrombosis upper limb / torso Mondor's disease Paget–Schroetter disease head Cerebral venous sinus thrombosis Post-thrombotic syndrome Varicose veins Gastric varices Portacaval anastomosis Caput medusae Esophageal varices Hemorrhoid Varicocele Other Chronic venous insufficiency Chronic cerebrospinal venous insufficiency Superior vena cava syndrome Inferior vena cava syndrome Venous ulcer Arteries or veins Angiopathy Macroangiopathy Microangiopathy Embolism Pulmonary embolism Cholesterol embolism Paradoxical embolism Thrombosis Vasculitis Blood pressure Hypertension Hypertensive heart disease Hypertensive emergency Hypertensive nephropathy Essential hypertension Secondary hypertension Renovascular hypertension Benign hypertension Pulmonary hypertension Systolic hypertension White coat hypertension Hypotension Orthostatic hypotensionTIMP1, MTHFR, TNF, SOD2, VKORC1, ALDH2, GCG, LGALS3, MYLK, ADM2, FBLN5, AHR, EPO, PKD2, HGF, SLC12A3, MYL9, NOS3, COL4A1, SERPINE1, NOTCH3, CRP, PON1, VEGFA, APOE, ACE, AGT, ENG, SIRT1, RNF213, HMOX1, FLI1, TGFB1, NFE2L2, AGER, IL6, OLR1, REN, CETP, GABPA, LPA, CBS, ACTA2, PLG, DECR1, NR3C2, PLA2G7, EDN1, EGR1, ELN, VWF, PPARG, THBS1, ADIPOQ, CRB1, TNFRSF11B, IL1B, MIR145, ADM, LDLR, PCSK9, IL1A, TREX1, IGF1, MPO, GLA, ADA2, MMP9, APOB, VPS51, CDKN2A, CCL2, NOS2, ACTB, CBSL, CD40LG, ALB, MTR, HP, IFNA1, KL, IFNA13, F3, CAV1, ACE2, ANGPT2, ANGPT1, MGP, SMAD3, LPL, TM7SF2, IL17A, AGTR1, TEK, AIF1, CXCL8, SIRT1-AS, GCA, SAMHD1, FGF2, ACVRL1, CD274, NOX4, TRPM7, ABO, APP, THBD, PPARD, CXCL12, PPIA, CAD, APLN, CAT, S100B, NOTCH1, SELE, STING1, APOA1, PRKAA1, KLF4, CREG1, MAPK7, TGFA, HTRA1, PSMD9, IFNG, PTGS2, AOC3, PTX3, MOK, NR4A1, FGF23, SETD2, TFEB, HIF1A, CXCR4, VTN, ISYNA1, TTR, GDF2, SELP, IL10, NF1, CABIN1, STAT5B, STAT5A, TRAF3IP2, NOS1, STAT3, IL24, TNFRSF1A, TP53, SMAD2, LTA, SPP1, OSM, P2RX7, LMNA, CRISP2, GPR182, PDE4A, TLR2, LEP, G6PD, HDAC9, KDR, JUND, JUNB, JUN, SLPI, PLA2G1B, ITGB2, LIPG, PLXNA2, SGK1, H3P10, CTSL, ENTPD1, MRTFA, BGLAP, EDNRA, FGF1, APOC3, CYBB, P2RY12, CTLA4, BGN, ESR1, IFIH1, F2, FCGR3B, FCGR3A, NLRP3, MIR221, CSF2, AOC2, TET2, APLNR, SPZ1, CCR5, FOSL2, BRCA1, FOSB, FOS, BMP4, MYOCD, MTOR, MIR126, PRSS55, AHSG, MIR21, P2RX6, C1QL3, S1PR2, NOG, PROM1, MIR143, MIR125A, F2RL3, LPAR2, KALRN, NR1I2, MIR155, HSPB3, DLL4, LONP1, C1QTNF12, NR1H3, DNM1L, PHACTR1, SH2B3, PDCD6IP, HDAC5, NR1I3, WDR1, MAGI2, KEAP1, HDAC4, COPD, ABCG1, OR10A4, HOXA-AS2, CCL4L2, SCARA5, BPIFA4P, C1QTNF9, PWAR4, GEN1, SOCS2, TICAM2, ENHO, CCL4L1, MIR197, PLA2G6, MIR19A, TNFRSF1B, UCP2, UCHL1, TXN, MIR193B, CXADRP1, TRPC1, TRAF6, MIR628, TP73, CCR2, CDKN2B-AS1, ZGLP1, TNFRSF11A, C20orf181, HOXA-AS3, TMED7-TICAM2, TMSB4X, TLR4, P2RX5-TAX1BP3, MIR4463, SMILR, NKILA, MTCO2P12, H3P23, MIR146B, MIR424, UTRN, MIR423, MIR200B, PDE5A, THOC5, DENR, CYP4F2, IKBKG, NAMPT, MIR210, MIR22, LRP8, YWHAZ, WRN, WNT5A, MIR222, MIR25, VIM, VHL, MIR320A, VEGFB, MIR34A, VDAC1, VCAM1, MIR133B, LRPPRC, DCP1B, ABI2, DAPK2, PTPN22, PDGFC, RAB26, POU2F3, SPHK2, ACKR3, MRTFB, CADM1, NLGN2, DOCK6, BACE1, SMUG1, MMRN1, MMD, CXCL16, FAM3A, ABCG8, ARL6IP1, GGCT, FTO, MPRIP, KDM6B, BRCC3, CUL9, TGFBR2, DKK3, DKK2, TRIB2, KRT20, SOX18, TREM2, TLR9, DUOX1, SCLY, PGPEP1, ANGPT4, EGFL7, TMED7, SOST, TAS2R10, AGGF1, SETD5, YY1AP1, DUOX2, EFEMP2, CHDH, MYLIP, FLVCR2, CCDC88A, APOM, KLF15, P2RX2, MLXIP, CEBPZ, ACTRT1, CXCR6, POSTN, PDPN, TXNIP, SH2B2, CXCL13, C1QTNF1, FBXO32, PROCR, CTHRC1, APOA5, ZNRD2, NDNF, PLB1, CIB1, DAB2IP, SYNPO2, TET3, NOD1, KLF2, RAMP2, TRIM13, MARCHF8, LPCAT3, DCTN6, PRRT2, TNFSF13B, NEXN, MYH14, EHMT1, VASH1, PDGFD, COL18A1, KLK8, ARHGAP24, ADAMTS7, FSTL1, ANTXR1, ADAMTS13, TRIM63, ORAI1, KRT90P, ESM1, RIPK3, TSLP, BTG3, RALBP1, IL33, PPARGC1A, HPSE, NOXA1, FGF21, SERPINA3, TGFBR1, ECM1, FAT1, PTK2B, ACSL1, F10, F7, F5, F2R, MECOM, ENO2, ELF3, ELANE, EGF, EFNB3, EDN2, DUSP5, FCN2, DPP4, DNMT3A, DNM2, DNASE1, DMD, DLD, DLAT, DDOST, DDB2, DCN, CYP19A1, CYP2C9, CYBA, CXADR, FBN1, FGA, HSPA4, GLP1R, HMGA1, HMGCR, HMGB1, HLA-E, HLA-DRB1, CFH, HBA2, HBA1, H2AZ1, GZMB, NR3C1, GPR42, CXCR3, GPI, GCH1, FGB, GBP1, GATA6, GATA2, FSHMD1A, FOLR2, FMR1, FLNA, FLII, FOXO3, FOXM1, FOXC1, VEGFD, FHL2, FGG, CTSS, CTSV, CTH, APEX1, BRS3, BHMT, CEACAM1, BCL6, ADGRB1, AXL, ATOX1, ARR3, RHOA, ARF6, ABCC6, KLK3, APOH, BIRC3, APC, CCN2, ANXA2, ANG, AMH, ALOX5, AKR1B1, AKT1, ADRA2B, ADRA1A, ADH1B, ADCY9, ADAR, ADAM8, ADA, ACP5, KLF5, BTF3P11, BUB1B, CALR, CST3, VCAN, CSF3, CRMP1, CRH, CPB2, CORT, COMP, LTB4R, CCR7, CCR3, CLU, CDKN1B, CDH5, CDC42, CDC20, CD59, CD47, CD40, CD36, CD34, CD28, MS4A1, KRIT1, CBL, CASR, CASP3, CAPN2, CAPN1, HSPA1A, HSPA6, TERT, PROC, REST, RENBP, RBP4, RASA1, RARRES2, RAF1, RAC1, PTPRB, PTPN11, PTPN1, PTGIR, PTEN, PSEN1, PROS1, ABCA4, RHO, PKN1, PRKCB, PRKCA, PRKAR1A, PRKAB1, PRKAA2, PREP, PPARA, PLAU, PLA2G2A, PIN1, PIK3CG, PIK3CD, PIM1, RGS1, ROS1, HSPB1, SLC5A2, PRDX2, HNF1A, TAL1, SUV39H1, STIM1, STAT1, ST2, SSTR4, SRF, SPG7, SORL1, SOAT1, SMPD1, SLC6A4, SLC2A4, RPGR, SLC2A1, SELL, CXCL5, CXCL6, CCL18, CCL4, SCN2A, ATXN1, SAI1, S100A9, S100A8, S100A4, SORT1, S100A1, PIK3CB, PIK3CA, PI3, KCNMA1, MAOA, SMAD4, LRP6, LOXL1, LMO7, LIPC, LIFR, LIF, LGALS3BP, LAMP2, LAD1, KRT7, KLKB1, KCNN4, JAK3, CFP, IRF3, EIF3E, CXCL10, IL6ST, IL6R, IL4, IL2, CCN1, IGFBP5, IFI27, ICAM1, TNC, HSP90AA1, HSPB2, MAOB, MAPT, MBL2, MME, PF4V1, PDE4D, PAWR, PAH, PAFAH1B1, PAEP, FURIN, P2RY2, P2RY1, P2RX5, P2RX4, P2RX3, P2RX1, NPPB, PNP, CCN3, NOTCH2, NM, NDUFV1, NDP, MYO1E, MTRR, ND5, COX2, MSRA, MMP14, MMP13, MMP8, MMP2, MAP2K5
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Norrie Disease
Wikipedia
However, the retinal dysplasia can be indistinguishable on MRI from persistent hyperplastic primary vitreous , or the dysplasia of trisomy 13 and Walker–Warburg syndrome . [23] For families with an existing history of Norrie disease, genetic counselling and in utero diagnosis of Norrie disease may be considered. [24] In utero diagnosis has been reported to include genetic testing by amniocentesis and ultrasonography to examine fetal eyes. ... External links [ edit ] NCBI Genetic Testing Registry Classification D ICD - 10 : Q15.8 ICD - 9-CM : 743.8 OMIM : 310600 MeSH : C537849 C537849, C537849 DiseasesDB : 31165 External resources Orphanet : 649 v t e Congenital malformations and deformations of eyes Adnexa Eyelid Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon Lacrimal apparatus Congenital lacrimal duct obstruction Globe Entire eye Anophthalmia ( Cystic eyeball , Cryptophthalmos ) Microphthalmia Lens Ectopia lentis Aphakia Iris Aniridia Anterior segment Axenfeld–Rieger syndrome Cornea Keratoglobus Megalocornea Other Buphthalmos Coloboma ( Coloboma of optic nerve ) Hydrophthalmos Norrie disease v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasiaNDP, FZD4, TSPAN12, MAOB, MAOA, PRSS23, OAT, APOE, CTNNB1, SOD1, STAT3, SYP, TP53, AIMP2, GRAP2, AHSA1, RNF19A, MAPK8, POLDIP2, REM1, IL22, CMAS, HMCES, IL21, EFHC2, NLRP3, MIR15A, MIR203A, MIR652, PSG2, AGT, MAPK1, PLAU, BCHE, BNIP3, C9, CD38, CD59, CEACAM5, CEACAM3, CEACAM7, CRK, MAPK14, EPHB2, GCG, IGF1, IL18, CD82, KIR2DL1, KRAS, LRP5, MMP7, MMP9, AHR, RRM2P3
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Congenital Stationary Night Blindness
Wikipedia
External links [ edit ] Classification D ICD - 10 : H53.6 ICD - 9-CM : 368.61 OMIM : 310500 300071 DiseasesDB : 32689 External resources MedlinePlus : 003039 GeneReview/NCBI/NIH/UW entry on X-Linked Congenital Stationary Night Blindness v t e Diseases of ion channels Calcium channel Voltage-gated CACNA1A Familial hemiplegic migraine 1 Episodic ataxia 2 Spinocerebellar ataxia type-6 CACNA1C Timothy syndrome Brugada syndrome 3 Long QT syndrome 8 CACNA1F Ocular albinism 2 CSNB2A CACNA1S Hypokalemic periodic paralysis 1 Thyrotoxic periodic paralysis 1 CACNB2 Brugada syndrome 4 Ligand gated RYR1 Malignant hyperthermia Central core disease RYR2 CPVT1 ARVD2 Sodium channel Voltage-gated SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain Constitutively active SCNN1B / SCNN1G Liddle's syndrome SCNN1A / SCNN1B / SCNN1G Pseudohypoaldosteronism 1AR Potassium channel Voltage-gated KCNA1 Episodic ataxia 1 KCNA5 Familial atrial fibrillation 7 KCNC3 Spinocerebellar ataxia type-13 KCNE1 Jervell and Lange-Nielsen syndrome Long QT syndrome 5 KCNE2 Long QT syndrome 6 KCNE3 Brugada syndrome 5 KCNH2 Short QT syndrome KCNQ1 Jervell and Lange-Nielsen syndrome Romano–Ward syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1 Inward-rectifier KCNJ1 Bartter syndrome 2 KCNJ2 Andersen–Tawil syndrome Long QT syndrome 7 Short QT syndrome KCNJ11 TNDM3 KCNJ18 Thyrotoxic periodic paralysis 2 Chloride channel CFTR Cystic fibrosis Congenital absence of the vas deferens CLCN1 Thomsen disease Myotonia congenita CLCN5 Dent's disease CLCN7 Osteopetrosis A2, B4 BEST1 Vitelliform macular dystrophy CLCNKB Bartter syndrome 3 TRP channel TRPC6 FSGS2 TRPML1 Mucolipidosis type IV Connexin GJA1 Oculodentodigital dysplasia Hallermann–Streiff syndrome Hypoplastic left heart syndrome GJB1 Charcot–Marie–Tooth disease X1 GJB2 Keratitis–ichthyosis–deafness syndrome Ichthyosis hystrix Bart–Pumphrey syndrome Vohwinkel syndrome ) GJB3 / GJB4 Erythrokeratodermia variabilis Progressive symmetric erythrokeratodermia GJB6 Clouston's hidrotic ectodermal dysplasia Porin AQP2 Nephrogenic diabetes insipidus 2 See also: ion channels