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Keshan Disease
Wikipedia
External links [ edit ] Classification D ICD - 10 : E59 ICD - 9-CM : 269.3 MeSH : C536166 DiseasesDB : 11941 v t e Infectious diseases – viral systemic diseases Oncovirus DNA virus HBV Hepatocellular carcinoma HPV Cervical cancer Anal cancer Penile cancer Vulvar cancer Vaginal cancer Oropharyngeal cancer KSHV Kaposi's sarcoma EBV Nasopharyngeal carcinoma Burkitt's lymphoma Hodgkin lymphoma Follicular dendritic cell sarcoma Extranodal NK/T-cell lymphoma, nasal type MCPyV Merkel-cell carcinoma RNA virus HCV Hepatocellular carcinoma Splenic marginal zone lymphoma HTLV-I Adult T-cell leukemia/lymphoma Immune disorders HIV AIDS Central nervous system Encephalitis / meningitis DNA virus Human polyomavirus 2 Progressive multifocal leukoencephalopathy RNA virus MeV Subacute sclerosing panencephalitis LCV Lymphocytic choriomeningitis Arbovirus encephalitis Orthomyxoviridae (probable) Encephalitis lethargica RV Rabies Chandipura vesiculovirus Herpesviral meningitis Ramsay Hunt syndrome type 2 Myelitis Poliovirus Poliomyelitis Post-polio syndrome HTLV-I Tropical spastic paraparesis Eye Cytomegalovirus Cytomegalovirus retinitis HSV Herpes of the eye Cardiovascular CBV Pericarditis Myocarditis Respiratory system / acute viral nasopharyngitis / viral pneumonia DNA virus Epstein–Barr virus EBV infection / Infectious mononucleosis Cytomegalovirus RNA virus IV : Human coronavirus 229E / NL63 / HKU1 / OC43 Common cold MERS coronavirus Middle East respiratory syndrome SARS coronavirus Severe acute respiratory syndrome SARS coronavirus 2 Coronavirus disease 2019 V , Orthomyxoviridae : Influenza virus A / B / C / D Influenza / Avian influenza V, Paramyxoviridae : Human parainfluenza viruses Parainfluenza Human orthopneumovirus hMPV Human digestive system Pharynx / Esophagus MuV Mumps Cytomegalovirus Cytomegalovirus esophagitis Gastroenteritis / diarrhea DNA virus Adenovirus Adenovirus infection RNA virus Rotavirus Norovirus Astrovirus Coronavirus Hepatitis DNA virus HBV ( B ) RNA virus CBV HAV ( A ) HCV ( C ) HDV ( D ) HEV ( E ) HGV ( G ) Pancreatitis CBV Urogenital BK virus MuV Mumps v t e Malnutrition Protein-energy malnutrition Kwashiorkor Marasmus Catabolysis Vitamin deficiency B vitamins B 1 Beriberi Wernicke–Korsakoff syndrome Wernicke's encephalopathy Korsakoff's syndrome B 2 Riboflavin deficiency B 3 Pellagra B 6 Pyridoxine deficiency B 7 Biotin deficiency B 9 Folate deficiency B 12 Vitamin B 12 deficiency Other A: Vitamin A deficiency Bitot's spots C: Scurvy D: Vitamin D deficiency Rickets Osteomalacia Harrison's groove E: Vitamin E deficiency K: Vitamin K deficiency Mineral deficiency Sodium Potassium Magnesium Calcium Iron Zinc Manganese Copper Iodine Chromium Molybdenum Selenium Keshan disease Growth Delayed milestone Failure to thrive Short stature Idiopathic General Anorexia Weight loss Cachexia Underweight 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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Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Orphanet
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia.
- Partial Androgen Insensitivity Syndrome Gard
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Acromegaly
Gard
Acromegaly may also be part of other genetic syndromes such as multiple endocrine neoplasia syndrome type 1 and type 4, hereditary paraganglioma-pheochromocytoma syndrome, McCune-Albright syndrome, neurofibromatosis, or Carney complex.GH1, AIP, IGF1, GNAS, GPR101, SST, GHR, MEN1, PTPRF, GHRH, SSTR2, SSTR5, PRL, IGFBP3, AHR, PPARG, IGF1R, POU1F1, SOCS2, PRKAR1A, SLC20A1, CDKN1B, BRAF, REN, CST3, SSTR1, AGT, MTHFR, RET, SMS, VDR, ARRB1, FGF21, GIPR, KL, TRIM21, GDNF, POMC, ESRP1, CALR, TP53, ACE, CDKN2A, TRH, TWIST1, TP73, TXN, SLPI, VEGFA, TNFSF11, TRHR, ZHX2, DGCR2, ABCB6, ZGLP1, MIR660, MIR21, ZACN, RSS, ARHGAP24, ASRGL1, EHMT1, FTO, MIB1, NDRG2, NPDC1, GPRC5C, GPRC5D, NAT10, UGT1A1, GHRL, SOST, PDLIM3, ATRNL1, RAB18, CCL2, CHEK2, UTS2, CCL27, CIB1, NAMPT, SLC5A2, GRK2, SRL, CYP11B2, GSTP1, GNAI2, GLP1R, GIP, GHRHR, GCG, FLNA, FGF2, E2F1, DPP4, DMBT1, CTSB, IGSF1, CRP, CISH, CALCA, CA1, BTF3P11, BAX, ATHS, APOE, AMH, ALPP, AGTR1, HSD11B1, INS, S100A1, OGG1, RORC, BRD2, RENBP, RAF1, PTPN4, PTPN3, PTH, AGRP, PRKACB, PLAGL1, TNFRSF11B, NRAS, EIF6, NPPB, NCAM1, MYC, MTRR, MTR, MMP2, MKI67, LPL, LGALS3, LEP, JAK2, H3P10
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Shin Splints
Wikipedia
Shin splints Other names Medial tibial stress syndrome (MTSS), [1] soleus syndrome, [2] tibial stress syndrome, [2] periostitis [2] Red area represents the tibia . ... Michael; Lavallee, Mark E. (7 October 2009). "Medial tibial stress syndrome: conservative treatment options" . ... "Use of Foot Orthoses and Calf Stretching for Individuals with Medial Tibial Stress Syndrome". Foot & Ankle Specialist . 3 (1): 15–20. doi : 10.1177/1938640009355659 . ... "Outcome of Surgical Treatment of Medial Tibial Stress Syndrome". The Journal of Bone and Joint Surgery. ... "Risk factors associated with medial tibial stress syndrome in runners: a systematic review and meta-analysis" .
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Esophageal Varices
Wikipedia
Nutritional supplementation is necessary if the person has been unable to eat for more than four days. [10] Terlipressin and octreotide for one to five days have also been used. [11] See also [ edit ] Caput medusae Esophagitis Gastric varices Mallory–Weiss syndrome Portal hypertensive gastropathy References [ edit ] ^ Rubin, Raphael; Strayer, David S.; Rubin, Emanuel, eds. (2012). ... External links [ edit ] Classification D ICD - 10 : I85 ICD - 10-CM : I85.0 ICD - 9-CM : 456.0 -456.2 MeSH : D004932 DiseasesDB : 9177 External resources MedlinePlus : 000268 eMedicine : med/745 radio/269 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 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 hypotension Authority control NDL : 01132949
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Infertility In Polycystic Ovary Syndrome
Wikipedia
"Medical therapy in women with polycystic ovary syndrome before and during pregnancy and lactation" . ... "The prevalence and features of the polycystic ovary syndrome in an unselected population" . ... "Infertility in polycystic ovary syndrome: focus on low-dose gonadotropin treatment". ... "Role of exercise training in polycystic ovary syndrome: a systematic review and meta-analysis". ... "Diagnosis and Treatment of Polycystic Ovary Syndrome" . American Family Physician . 94 (2): 106–13.
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Surfactant Metabolism Dysfunction
Wikipedia
Since SP-B has a major role in surfactant biogenesis and spreading of surfactant and lipid layer, any disruption to existence of SP-B results in ineffective respiration and lethal pulmonary conditions at birth. [5] Pathology manifestation in full-term infant resembles characteristics of newborn with Respiratory Distress Syndrome . [6] Imaging of epithelial type II cells with SP-B deficiency shows immature lamellar bodies without tightly packed membranes, but rather with loose and unorganized membranes. ... In addition, hypothyroidism can cause damaged production of NKX2.1 proteins, which can lead to insufficient transcription of multiple surfactant proteins. [ citation needed ] Treatment [ edit ] Neonates with surfactant metabolism dysfunctions, especially those with SP-B disorder, only have lung transplantation as one possible choice of treatment. [3] Children with lung transplant due to surfactant metabolism dysfunction perform on similar level to those with transplant for due to other reasons. [3] Some less severe cases of ABCA3 dysfunctions manifest in late childhood or adult hood are due to missense mutations that result in semi-sufficient levels of active surfactant, while SP-C clinical presentation varies greatly depending on level of penetration of the mutated alleles. [4] See also [ edit ] Congenital hypothyroidism Infant respiratory distress syndrome Interstitial lung disease Persistent pulmonary hypertension of the newborn Pulmonary alveolar proteinosis Respiratory care References [ edit ] ^ Seadler, Benjamin D.; Kaushik, Ravi; Sharma, Sandeep (2020), "Physiology, Alveolar Tension" , StatPearls , StatPearls Publishing, PMID 30969647 , retrieved 2020-04-24 ^ a b c Olmeda, Bárbara; Martínez-Calle, Marta; Pérez-Gil, Jesus (2017-01-01). ... External links [ edit ] Classification D External resources Orphanet : 100049 v t e Genetic disorder , membrane: ABC-transporter disorders ABCA ABCA1 ( Tangier disease ) ABCA3 ( Surfactant metabolism dysfunction 3 ) ABCA4 ( Stargardt disease 1 , Retinitis pigmentosa 19 ) ABCA12 ( Harlequin-type ichthyosis , Lamellar ichthyosis 2 ) ABCB ABCB4 ( Progressive familial intrahepatic cholestasis 3 ) ABCB7 ( ASAT ) ABCB11 ( Progressive familial intrahepatic cholestasis 2 ) ABCC ABCC2 ( Dubin–Johnson syndrome ) ABCC6 ( Pseudoxanthoma elasticum ) ABCC7 ( Cystic fibrosis ) ABCC8 ( HHF1 , TNDM2 ) ABCC9 ( Dilated cardiomyopathy 1O ) ABCD ABCD1 ( Adrenoleukodystrophy , Adrenomyeloneuropathy ) ABCG ABCG5 ( Sitosterolemia ) ABCG8 ( Gallbladder disease 4, Sitosterolemia ) see also ABC transporters v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity , Leydig cell hypoplasia , Male-limited precocious puberty ) FSHR ( Follicle-stimulating hormone insensitivity , XX gonadal dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome , Waardenburg syndrome 4a , Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes insipidus 1 ) PTGER2 ( Aspirin-induced asthma ) Class B PTH1R ( Jansen's metaphyseal chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked receptor (including growth factor ) RTK ROR2 ( Robinow syndrome ) FGFR1 ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin / Alk-1 / SMAD4 ( Hereditary hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome ) CSF2RA ( Surfactant metabolism dysfunction 4 ) MPL ( Congenital amegakaryocytic thrombocytopenia ) TNF receptor TNFRSF1A ( TNF receptor associated periodic syndrome ) TNFRSF13B ( Selective immunoglobulin A deficiency 2 ) TNFRSF5 ( Hyper-IgM syndrome type 3 ) TNFRSF13C ( CVID4 ) TNFRSF13B ( CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome , Familial exudative vitreoretinopathy 4 , Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia ) Other/ungrouped Immunoglobulin superfamily : AGM3, 6 Integrin : LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome ) IL2RG ( X-linked severe combined immunodeficiency ) See also cell surface receptors v t e Cell membrane protein disorders (other than Cell surface receptor , enzymes , and cytoskeleton ) Arrestin Oguchi disease 1 Myelin Pelizaeus–Merzbacher disease Dejerine–Sottas disease Charcot–Marie–Tooth disease 1B, 2J Pulmonary surfactant Surfactant metabolism dysfunction 1, 2 Cell adhesion molecule IgSF CAM : OFC7 Cadherin : DSG1 Striate palmoplantar keratoderma 1 DSG2 Arrhythmogenic right ventricular dysplasia 10 DSG4 LAH1 DSC2 Arrhythmogenic right ventricular dysplasia 11 Integrin : cell surface receptor deficiencies Tetraspanin TSPAN7 X-Linked mental retardation 58 TSPAN12 Familial exudative vitreoretinopathy 5 Other KIND1 Kindler syndrome HFE HFE hereditary haemochromatosis DYSF Distal muscular dystrophy Limb-girdle muscular dystrophy 2B See also other cell membrane proteins
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Acute Promyelocytic Leukemia
Wikipedia
Both chemotherapies result in a clinical remission in approximately 90% of patients with arsenic trioxide having a more favorable side effect profile. [5] ATRA therapy is associated with the unique side effect of differentiation syndrome . [11] This is associated with the development of dyspnea , fever, weight gain, peripheral edema and is treated with dexamethasone . [12] The etiology of retinoic acid syndrome has been attributed to capillary leak syndrome from cytokine release from the differentiating promyelocytes. [12] The monoclonal antibody, gemtuzumab ozogamicin , has been used successfully as a treatment for APL, [13] although it has been withdrawn from the US market due to concerns regarding potential toxicity of the drug and it is not currently marketed in Australia, Canada or the UK. [13] [14] Given in conjunction with ATRA, it produces a response in around 84% of patients with APL, which is comparable to the rate seen in patients treated with ATRA and anthracycline-based therapy. [13] It produces less cardiotoxicity than anthracycline-based treatments and hence may be preferable in these patients. [13] Maintenance therapy [ edit ] After stable remission was induced, the standard of care previously was to undergo 2 years of maintenance chemotherapy with methotrexate , mercaptopurine and ATRA. [15] A significant portion of patients relapsed without consolidation therapy. [12] In the 2000 European APL study, the 2-year relapse rate for those that did not receive consolidation chemotherapy (ATRA not included) therapy was 27% compared to 11% in those that did receive consolidation therapy (p<0.01). [16] Likewise in the 2000 US APL study, the survival rates in those receiving ATRA maintenance was 61% compared to just 36% without ATRA maintenance. [17] However, recent research on consolidation therapy following ATRA-ATO, which became the standard treatment in 2013, has found that maintenance therapy in low-risk patients following this therapy may be unnecessary, although this is controversial. [10] Relapsed or refractory disease [ edit ] Arsenic trioxide (As 2 O 3 ) is currently being evaluated for treatment of relapsed / refractory disease. ... "Clinical and biological features of acute promyelocytic leukemia patients developing retinoic acid syndrome during induction treatment with all-trans retinoic acid and idarubicin" . ... External links [ edit ] Classification D ICD - 10 : C92.4 ICD - 9-CM : 205.0 ICD-O : M9866/3 OMIM : 102578 MeSH : D015473 DiseasesDB : 34779 SNOMED CT : 28950004 External resources eMedicine : med/34 Orphanet : 520 Management of acute promyelocytic leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet. 2008 Adult Acute Myeloid Leukemia Treatment (PDQ®) v t e Myeloid -related hematological malignancy CFU-GM / and other granulocytes CFU-GM Myelocyte AML : Acute myeloblastic leukemia M0 M1 M2 APL/M3 MP Chronic neutrophilic leukemia Monocyte AML AMoL/M5 Myeloid dendritic cell leukemia CML Philadelphia chromosome Accelerated phase chronic myelogenous leukemia Myelomonocyte AML M4 MD-MP Juvenile myelomonocytic leukemia Chronic myelomonocytic leukemia Other Histiocytosis CFU-Baso AML Acute basophilic CFU-Eos AML Acute eosinophilic MP Chronic eosinophilic leukemia / Hypereosinophilic syndrome MEP CFU-Meg MP Essential thrombocytosis Acute megakaryoblastic leukemia CFU-E AML Erythroleukemia/M6 MP Polycythemia vera MD Refractory anemia Refractory anemia with excess of blasts Chromosome 5q deletion syndrome Sideroblastic anemia Paroxysmal nocturnal hemoglobinuria Refractory cytopenia with multilineage dysplasia CFU-Mast Mastocytoma Mast cell leukemia Mast cell sarcoma Systemic mastocytosis Mastocytosis : Diffuse cutaneous mastocytosis Erythrodermic mastocytosis Adult type of generalized eruption of cutaneous mastocytosis Urticaria pigmentosa Mast cell sarcoma Solitary mastocytoma Systemic mastocytosis Xanthelasmoidal mastocytosis Multiple/unknown AML Acute panmyelosis with myelofibrosis Myeloid sarcoma MP Myelofibrosis Acute biphenotypic leukaemia v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22NPM1, RARA, NUMA1, PML, ZBTB16, STAT5B, IRF2BP2, PRKAR1A, FLT3, F3, KIT, ITGAM, CEBPA, AKT1, THBD, DNMT3A, WT1, IFNG, STAT3, ITGB2, TBL1XR1, CD44, BCOR, DAPK2, AQP9, NRAS, ITGAL, CEBPE, IDH1, IDH2, ITGAX, IL17A, TET2, NABP1, GLI2, GLI1, SMO, DEFA3, SMC1A, FNDC3B, MIR15A, FIP1L1, MIR16-1, BIRC5, RAP1GAP, ASXL1, CCL7, MYC, TP53, FANCB, PRAM1, CSF3, RAB40B, BCRP3, CD34, ANXA2, BCR, MPO, TNF, SMPD1, CD38, SUMO1, RUNX1, ABCB1, BCL2, ELANE, CD33, MECOM, NCAM1, SP100, CCR7, PIK3CG, PIK3CB, CTSG, BCRP2, PIK3CA, PIK3CD, IL1B, ANXA8, ANXA8L1, RUNX1T1, CDKN2A, NCOR2, TRIB3, CXCL8, RARG, ERBB2, THRA, CASP3, CEBPB, VEGFA, CDKN1A, ABL1, NFE2L2, GABPA, ANPEP, NCOR1, RNF4, SUB1, RUNX2, KMT2A, IRF8, AS3MT, ICAM1, AIDA, SET, TRBV20OR9-2, ABCC11, TERT, PTK2B, ABCC8, NXT1, HIF1A, CSF2, TBC1D9, RARB, C20orf181, CDKN2B, REG1A, CDKN2D, VAV1, HOTAIRM1, MRPL28, PTEN, MAPK14, CSF1R, G0S2, LGALS3, RXRA, PLG, MAPK3, S100A8, KRAS, H3P9, CYP26A1, HPRT1, PIN1, MAP2K1, HOXA1, SUMO2, PPARG, MAP2K7, SOAT1, KDM1A, PTPA, SMYD5, BRD4, ODC1, NUP98, IL23A, PADI4, XAB2, S100A10, IL10, JAK1, CRLF3, IL7R, IL4, IL3, PRDX4, MATN1, HTC2, MCL1, RELA, SGSM3, IRF1, PTPN11, ABCC1, PTGS2, IRF9, MFAP1, SYT1, MIR146A, FASLG, EGFR, PTF1A, ATG5, TSHR, TRAP, GSTK1, APRT, DAXX, UBA7, SLC25A10, MIRLET7C, UBE2L6, CRABP1, H3P38, TOP2B, KDM6A, RERE, ATRX, CDKN1B, BCL6, BLM, CD19, MIR221, GPRC5A, BCRP1, CXCR4, MBD2, BRCA1, TP73, NEAT1, ANXA1, FCGR1A, ST13, ABL2, GSTT1, GORASP1, GSTM1, HDAC9, WNK1, FUT4, FUT1, FLT1, H3P13, BAALC, ERG, EOMES, SLCO6A1, JAG1, THBS1, TGM2, PCGF2, TGFB1, F9, DLK1, ADAMTS13, IER3, CD84, TNFSF10, BLZF1, CDKL1, RASSF1, PRDX3, PIAS1, EHMT2, RPP14, CKAP4, TP63, TNFRSF10D, TNFRSF10C, IL18R1, TNFRSF10A, PIM2, SRA1, SQSTM1, PPIG, SLC9A3R1, CHST3, ATG7, BCAR1, NR1D1, RACK1, RIN1, KLK4, NDRG1, ISG15, ZMPSTE24, CDK2AP2, PCLAF, MVP, ATP6AP2, UBD, PDLIM7, EBP, AGPAT2, NAE1, CCNA1, TNFSF13B, CTCF, KHDRBS1, PDPN, RNF8, PRC1, AURKB, TXNIP, XPR1, DMTF1, NOG, TRIM16, MSC, WIF1, NAT1, CHEK2, CBLL2, MIR10B, MIR10A, MIR107, MIRLET7B, ASPG, NCR3LG1, NUP43, RAB7B, CLEC4D, NCR3, CENPV, PTCRA, GPR180, RMDN2, PTGDR2, DRAM2, OVCA2, PRRT2, CGB8, CGB5, LGALS12, HAVCR2, LMNB2, TCHP, USP48, ARHGAP24, RNF34, WLS, MIR125B1, MIR142, MIR143, MIR15B, H3P30, H3P8, LOC110013312, RN7SL263P, PGR-AS1, PCAT1, KLRC4-KLRK1, MIR766, SNORD112, PSG10P, NCF1, MIR382, MIR342, MIR340, XRCC6P5, ZFAS1, PSG8, MIR17HG, MIR34B, MIR34A, MIR29B2, MIR29B1, MIR223, MIR222, MIR192, MIR182, MIR181A2, DHDDS, LIN28A, MUL1, HIPK2, LAMTOR2, IGHV1-12, EML4, HPGDS, PDCD4, DISC1, ZBTB32, GNL3, PHGDH, SENP3, WIPI2, ZNF451, PRDX5, SH3BP4, NUP62, CDK20, PRAME, SUZ12, PHF8, PEG10, MYCBP2, WDFY3, DKK1, KLRK1, GABARAPL2, USP18, SP140, RGCC, KLF15, MARCKSL1, DERL2, GPSM3, BCORL1, USP37, ARID1B, PNPLA2, CHPT1, ENAH, SYBU, KRBOX4, QRSL1, RMDN3, MSTO1, PIWIL2, WIPI1, SWT1, RHOF, MBD3, BCL11A, KDM3B, ASB2, GINS2, SF3B6, IKBKG, WT1-AS, LEF1, DCTN4, RMDN1, PIR, CCL5, CNTNAP1, IGFBP3, GATA2, FOS, FLG, FOXO3, FOXO1, FOXC1, FH, FGFR1, FGF13, FEN1, F13B, F13A1, F10, F2RL1, F2, EZH2, EYA2, ETV6, ERBB4, EPS15, EPHB2, EP300, ELAVL1, EIF4G2, EIF4EBP1, EGR1, EGF, KAT2A, GCY, GDNF, HLA-DRB1, ID1, HTR3A, HSPG2, HSP90AB1, HSP90AA1, HES1, HOXD3, HOXB2, HOXA9, HNMT, HMGN2, HMGN1, HK3, GFRA1, HIC1, HHEX, HGF, HFE, HDAC1, HCK, GTF2I, GTF2H1, GSTP1, GSK3B, GLB1, GHR, EFNA4, E2F1, DTNA, AIRE, CAMP, CAD, BRAF, BMP6, BMP4, BMP2, BIK, BAX, ARSD, AR, AQP7, FAS, APAF1, CASP10, ANXA5, ANXA3, ALOX5, ALK, ALB, AGTR2, AGL, ADCY9, ADCY7, ACTL6A, ACTB, ABO, CASP8, CBR1, ATN1, CGB3, ARID3A, DNMT1, DIO3, DAPK1, DAP, CYP2B6, CUX1, CRYBA1, CREB1, KLF6, CEACAM7, CEACAM3, CGA, CCNA2, CEACAM5, CD52, CDKN2C, CDC25C, CDK1, CD68, CD47, CD14, CD6, CD2, CCNE1, CCNB1, ID2, IL1A, PPM1D, IL6, TGM1, TGFA, TFRC, TERC, TACR1, STAT5A, STAT2, STAT1, SPI1, SOD1, SUMO3, SMARCA4, SLC1A2, SHB, SFRP1, SDHD, SCT, ATXN1, S100A9, RPE65, RNPEP, RNASE3, RET, PLAAT4, RAF1, RAD21, PVT1, TIMP1, TNFAIP2, TPMT, ZFP36, NR0B2, FZD9, ARID1A, TAM, NCOA3, CDR3, WT4, TFEB, DEK, ZMYM2, RNF112, MZF1, XRCC1, TWIST1, XPO1, XBP1, WNT5A, VIM, VHL, VDR, UVRAG, UCN, UBE2I, UBE2E2, TYMS, TXNRD1, PTPRC, PTPN6, PTGS1, MCM2, MRE11, MPST, MPL, MMP9, AFF1, MLLT1, MAP3K10, MLF1, MGMT, RAB8A, MEIS1, MDM4, SMAD4, COX1, LPA, LMO2, LMNB1, LMNA, LGALS1, LBR, STMN1, LAMP1, KLRD1, KLRB1, IL18, IL15, MSH3, MYB, PTGDS, PLSCR1, PSMC6, PSG5, PSG2, PROS2P, MAPK8, MAPK1, PRKCB, PRKCA, SRGN, PRF1, POLD1, PMAIP1, PLAT, NEDD8, PHB, PGR, PFAS, PECAM1, PDGFRB, PBX1, PAX5, PRKN, NOTCH1, NME1, NGFR, NFIL3, H3P10
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Phalangeal Microgeodic Syndrome
Orphanet
A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.
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Anonychia-Microcephaly Syndrome
Orphanet
A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.
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Ptosis-Strabismus-Ectopic Pupils Syndrome
Orphanet
A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.
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Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Orphanet
Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
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Hypotonia-Failure To Thrive-Microcephaly Syndrome
Orphanet
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
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Aplasia Cutis-Myopia Syndrome
Orphanet
A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
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Dacryocystitis-Osteopoikilosis Syndrome
Orphanet
Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).
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Eosinophilia
Wikipedia
The disorder may also become associated with tissue or organ damage and therefore be diagnosed as the hypereosinophilic syndrome. Idiopathic hyereosinophilia is treated by observation to detect development of the cited more serious disorders. [5] [19] Idiopathic hypereosiophilic syndrome [ edit ] Main article: Hypereosinophilic syndrome The idiopathic hypereosinophilic syndrome is a disorder characterized by hypereosiophilia that is associated with eosinophil-based tissue or organ damage. ... The list of such disorders includes ZAP70 deficiency (defective ZAP70 gene), CD3gamma chain deficiency (defective CD3G gene), MCHII deficiency (defective RFXANK gene), Wiskott–Aldrich syndrome (defective WAS gene), IPEX syndrome (defective IPEX gene), CD40 gene defect, and autoimmune lymphoproliferative syndrome (defective Fas receptor gene). ... Hydroxyurea and imatinib are less likely to have efficacy in this variant of hypereosinophilia than in many cases of clonal eosinophilia or chronic eosinophilic leukemia. Gleich's syndrome [ edit ] Main article: Gleich's syndrome Gleich's syndrome , which may be a form of lymphocyte-variant hypereosinophilia, involves hypereosinophilia, elevated blood levels of IgM antibodies, and clonal expansion of T cells . ... "Recent advances in pathogenesis and management of hypereosinophilic syndromes". Allergy . 59 (7): 673–89. doi : 10.1111/j.1398-9995.2004.00465.x . ... External links [ edit ] Classification D ICD - 10 : D72.1 ICD - 9-CM : 288.3 MeSH : D004802 DiseasesDB : 4328 SNOMED CT : 419455006 External resources eMedicine : med/685 Patient UK : Eosinophilia Hypereosinophilic Syndrome research in UK Hypereosinophilic Syndrome on patient.info Hypereosinophilic Syndrome on eMedicine Hypereosinophilic Syndrome (HES) on American Academy of Allergy, Asthma & Immunology Hypereosinophilic syndrome on Mayo Clinic v t e Diseases of monocytes and granulocytes Monocytes and macrophages ↑ -cytosis : Monocytosis Histiocytosis Chronic granulomatous disease ↓ -penia : Monocytopenia Granulocytes ↑ -cytosis : granulocytosis Neutrophilia Eosinophilia / Hypereosinophilic syndrome Basophilia Bandemia ↓ -penia : Granulocytopenia/agranulocytosis ( Neutropenia / Severe congenital neutropenia / Cyclic neutropenia Eosinopenia Basopenia ) Disorder of phagocytosis Chemotaxis and degranulation Leukocyte adhesion deficiency LAD1 LAD2 Chédiak–Higashi syndrome Neutrophil-specific granule deficiency Respiratory burst Chronic granulomatous disease Neutrophil immunodeficiency syndrome Myeloperoxidase deficiencyIL5, RAG2, GATA3, TLR4, TLR2, IL6ST, SHARPIN, MYD88, CYBA, KNG1, PDGFRA, PDGFRB, KIT, FASLG, FAS, ZAP70, STAT3, ELANE, FOXP3, SRP54, ETV6, SRSF2, LIG4, CSF2, IL33, CARD11, HLA-DRB1, EXTL3, TET2, DOCK8, FIP1L1, FANCB, IL13, BCL11B, IL7R, IL25, ADA, RNU4ATAC, DCLRE1C, GFI1, SLC27A4, ADAM17, SLC46A1, CD3E, IKBKG, CCL24, CCL11, CAPN3, CASP10, BTNL2, COPD, POMP, POSTN, RAG1, CD3D, RMRP, CD247, RBM8A, CHD7, IL2RG, PGM3, CCL26, TCIRG1, PRKCD, RASGRP1, ASXL1, IL4, FGFR1, MYDGF, IL10, IL9, CCR3, IL17A, IL6, MYH11, RNASE3, CCL17, STAT6, IL3, IL18, JAK2, RRBP1, FEV, ABL1, CEL, BCR, TSLP, CXCL8, IL22, PARP9, CCDC88C, SLC27A5, IL2RA, IL1RL1, EPX, AHR, SFTPA2, IFNG, IFNA13, TNF, IFNA1, CCL5, ISG20, SFTPD, CEP85L, SPP1, QPCT, MPO, TP63, MIR21, LGALS9, CCL13, PTGDR2, ESR1, NOS2, MTHFR, IL15, IFNB1, IL1A, IL1B, IL2, EBI3, TGFB1, IL5RA, CRP, GATA2, FLT3, DERL1, SCNN1B, STAT5B, MYB, MBL2, TAC4, THSD7A, IL27, TRIP11, COX5A, TIMELESS, FLCN, GRAP2, IL27RA, TRAF4, HS2ST1, OR10A4, RBMY1D, IL18R1, TNFRSF10C, TNFSF14, NANOS2, RBMY2DP, CRYGEP, MIR221, ARHGEF5, MIR223, AIMP2, EOS, MIR619, WT1, VDR, CCP110, ETNK1, SH2B3, LRRC31, POLDIP2, CHIC2, HAVCR1, FOXP1, IL37, TET1, HPGDS, LPCAT1, DBNL, PDF, OXER1, TNFSF4, CRNN, CRLF2, IGAN1, IL21, MBL3P, LTB4R2, CTNNBL1, RTEL1, RNF19A, HAVCR2, ICOSLG, DTD1, IFNLR1, CD300LF, CLEC10A, AHSA1, WDR36, CD200R1, SLC25A25, PDPN, NLRP3, CXCR6, RRAGA, IL17D, TRAF3IP2, CPSF4, IL17F, ORMDL3, CNTRL, ACOT7, IKZF2, VCAM1, LGMN, TWIST1, FLG, MAPK14, CSF3, CTLA4, CTNND2, CYP2C19, DRD2, EIF4EBP1, F2, FABP4, FAP, FKBP4, FKBP5, FLNC, TNC, GATA1, GCG, GLP1R, GOLGB1, GPT, GRB2, NR3C1, HMGB1, SLC29A2, HES1, HSPG2, NDST1, CRYGC, CRK, CPOX, COX8A, ACTB, PARP1, ANPEP, AR, ARG1, ATP12A, ATP4A, BCL2, BCL6, BDNF, BRAF, RUNX1, CBFA2T3, CBFB, CCT, CD1D, CD2, CD4, CD80, CD86, CLCA1, CCR1, CCR4, CNR2, MAP3K8, HTC2, ICAM1, TP53BP1, RBMY1A1, PLA2G5, PPARG, PTPA, MAPK1, MAPK3, MAP2K3, AOC1, PTGDR, PTGDS, PTGS2, RAB27A, RARS1, RNASE2, ICAM3, S100A4, S100A12, SCN1A, CCL3, SDC2, SELL, SLC6A3, STAT5A, TAC1, TRBV20OR9-2, THY1, NKX2-1, SERPINB10, ABCB1, PDCD1, PCM1, IFNA2, IFNGR1, IGH, IGHE, IL4R, IL11, IL15RA, CXCL10, IPP, IRF3, IRF7, ITGAM, ITGB7, LAMC2, LEP, LTBR, KMT2A, MMP1, MMP12, MYH9, NFATC2, NFE2L2, NOS1, NUMA1, P2RX4, MIR4486
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Paramyotonia Congenita
Wikipedia
"A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity". ... "Evoked response testing in myotonic syndromes". Muscle Nerve . 7 (7): 590–2. doi : 10.1002/mus.880070709 . ... Fact page from the Muscular Dystrophy Association External links [ edit ] Classification D ICD - 10 : G71.1 ICD - 9-CM : 359.2 OMIM : 168300 MeSH : D020967 DiseasesDB : 32105 External resources MedlinePlus : 000316 eMedicine : neuro/308 Orphanet : 684 v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy 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
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Fibular Aplasia-Ectrodactyly Syndrome
Orphanet
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.
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Periodic Limb Movement Disorder
Wikipedia
PLMD should not be confused with restless legs syndrome (RLS). RLS is characterized by a voluntary response to an urge to move legs due to discomfort. ... "The clinical neurophysiology of the restless legs syndrome and periodic limb movements. Part I: diagnosis, assessment, and characterization". ... "Different sleep characteristics in restless legs syndrome and periodic limb movement disorder". ... PMID 9703590 . ^ Hornyak M, Trenkwalder C (May 2004). "Restless legs syndrome and periodic limb movement disorder in the elderly". ... "Clinical, polysomnographic, and genetic characteristics of restless legs syndrome: a study of 133 patients diagnosed with new standard criteria".