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Hamel Cerebro-Palato-Cardiac Syndrome
Orphanet
An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. Epidemiology The prevalence is unknown. ... Three out of four patients died in infancy or early childhood. Hamel cerebro-palato-cardiac syndrome represents the more severe phenotypic variant. Etiology The syndrome is caused by mutations in the PQBP1 gene. ... Genetic counseling Hamel cerebro-palato-cardiac syndrome follows an X-linked recessive pattern of inheritance.
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Trismus Pseudocamptodactyly Syndrome
Wikipedia
Trismus pseudocamptodactyly syndrome Other names Dutch-Kentucky syndrome, Distal arthrogryposis type 7 Trismus Pseudocamptodactyly syndrome is a rare genetic condition. ... You can help by adding to it . ( February 2018 ) Treatment [ edit ] Treatment is symptomatic in nature. [3] References [ edit ] ^ "Trismus-pseudocamptodactyly syndrome - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ^ "Trismus Pseudocamptodactyly Syndrome - NORD (National Organization for Rare Disorders)" . ^ a b c "OMIM Entry # 158300 - ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7" . www.omim.org .
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Pura Syndrome
Medlineplus
PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking. ... Recurrent seizures (epilepsy) are also common in PURA syndrome. Seizures usually begin before age 5 with uncontrolled muscle jerks (myoclonus). Other types of seizures can develop, such as generalized tonic-clonic seizures, which involve loss of consciousness, muscle rigidity, and convulsions. In people with PURA syndrome, seizures are often difficult to control. Other features in people with PURA syndrome can include abnormalities of the heart, eyes, urogenital tract, gastrointestinal tract, and skeleton. ... It is estimated to account for fewer than 1 percent of cases of developmental delay. Causes PURA syndrome is caused by mutations in the PURA gene, which provides instructions for making a protein called Pur-alpha (Purα).
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Ppm-X Syndrome
Medlineplus
Causes Mutations in the MECP2 gene cause PPM-X syndrome. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. ... Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of PPM-X syndrome. Some MECP2 gene mutations that cause PPM-X syndrome disrupt attachment (binding) of the MeCP2 protein to DNA, and other mutations alter the 3-dimensional shape of the protein. ... It is unclear how MECP2 gene mutations lead to the signs and symptoms of PPM-X syndrome, but misregulation of genes in the brain likely plays a role. Learn more about the gene associated with PPM-X syndrome MECP2 Inheritance Pattern More than 99 percent of PPM-X syndrome cases occur in people with no history of the disorder in their family. ... These cases helped researchers determine that PPM-X syndrome has an X-linked pattern of inheritance.
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8p11 Myeloproliferative Syndrome
Medlineplus
8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. ... Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer. ... In most cases of 8p11 myeloproliferative syndrome, the cancerous cells are lymphoid cells called T cells. ... Most people with 8p11 myeloproliferative syndrome have symptoms such as fatigue or night sweats. ... Frequency The prevalence of 8p11 myeloproliferative syndrome is unknown. It is thought to be a rare condition.
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Huntington's Disease-Like Syndrome
Wikipedia
Huntington's disease-like syndrome Other names HDL syndrome Specialty Neurology Huntington's disease-like syndromes ( HD-like syndromes , or HDL syndromes ) are a family of inherited neurodegenerative diseases that closely resemble Huntington's disease (HD) in that they typically produce a combination of chorea , cognitive decline or dementia and behavioural or psychiatric problems. [1] Contents 1 Types 1.1 HDL1 1.2 HDL2 1.3 HDL3 1.4 Other 2 References 3 External links Types [ edit ] HDL1 [ edit ] HDL1 is an unusual, autosomal dominant familial prion disease . ... More broadly, inherited prion diseases in general can mimic HD. [1] HDL2 [ edit ] HDL2 is the most common HD-like syndrome and is caused by GTC/ CAG triplet expansions in the JPH3 gene encoding junctophilin-3. ... It has only been reported in two families, and the causative gene is unidentified. [1] Other [ edit ] Other neurogenetic disorders can cause an HD-like or HD phenocopy syndrome but are not solely defined as HDL syndromes. ... "Huntington's disease phenocopy syndromes". Current Opinion in Neurology . 20 (6): 681–7. doi : 10.1097/wco.0b013e3282f12074 .
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Activated Pi3k-Delta Syndrome
Medlineplus
Activated PI3K-delta syndrome is a disorder that impairs the immune system. ... Beginning in childhood, people with activated PI3K-delta syndrome develop recurrent infections, particularly in the lungs, sinuses , and ears. ... Another possible feature of activated PI3K-delta syndrome is abnormal clumping of white blood cells. ... Frequency The prevalence of activated PI3K-delta syndrome is unknown. Causes Activated PI3K-delta syndrome is caused by mutations in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110δ). ... PIK3CD gene mutations involved in activated PI3K-delta syndrome lead to production of an altered p110δ protein.
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Pigment Dispersion Syndrome
Wikipedia
Pigment dispersion syndrome Other names Pigmentary glaucoma The iris(cells) plays a role in this condition Specialty Ophthalmology Pigment dispersion syndrome ( PDS ) is an eye disorder that can lead to a form of glaucoma known as pigmentary glaucoma . ... As the crystalline lens hardens with age, the lens zonules pull away from the iris and the syndrome lessens and stops. The main risk factor is nearsightedness . [1] Genetic factors may also play a part in the transition from syndrome to the glaucoma condition. [2] Diagnosis [ edit ] Diagnosis for pigment dispersion syndrome is made with characteristic s lit lamp and gonioscopy findings. [3] Management [ edit ] There is no cure, but pigmentary glaucoma can be managed with eye drops or treated with simple surgeries. ... A 2016 Cochrane Review sought to determine the effectiveness of YAG laser iridotomy versus no laser iridotomy for pigment dispersion syndrome and pigmentary glaucoma, in 195 participants, across five studies. [4] No clear benefits in preventing loss of visual field were found for eyes treated with peripheral laser iridotomy. [4] There was weak evidence suggesting that laser iridotomy could be more effective in lowering intraocular pressure in eyes versus no treatment. [4] References [ edit ] ^ a b c "Pigment-dispersion syndrome" . ... "The genetics of pigment dispersion syndrome and pigmentary glaucoma". Surv Ophthalmol . 58 (2): 164–75. doi : 10.1016/j.survophthal.2012.08.002 . PMID 23218808 . ^ "Pigment Dispersion Syndrome Diagnosis" . American Academy of Ophthalmology . 28 April 2018 .
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Weissenbacher-Zweymüller Syndrome
Medlineplus
Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. ... Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. ... Most people with Weissenbacher-Zweymüller syndrome experience significant "catch-up" growth in the bones of the arms and legs during childhood. ... Frequency Weissenbacher-Zweymüller syndrome is very rare; only a few affected families worldwide have been described in the medical literature. Causes Weissenbacher-Zweymüller syndrome is caused by mutations in the COL11A2 gene.
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Propofol Infusion Syndrome
Wikipedia
Please help to improve this article by introducing more precise citations. ( April 2015 ) ( Learn how and when to remove this template message ) Propofol infusion syndrome Propofol Propofol infusion syndrome ( PRIS ) is a rare syndrome which affects patients undergoing long-term treatment with high doses of the anaesthetic and sedative drug propofol . ... Treatment is supportive. Early recognition of the syndrome and discontinuation of the propofol infusion reduces morbidity and mortality. ... "The pathophysiology of propofol infusion syndrome: a simple name for a complex syndrome". ... (June 2008). "Propofol Infusion Syndrome: A Rare Complication With Potentially Fatal Results" . ... (July 2007). "Propofol infusion syndrome" . Anaesthesia . 62 (7): 690–701. doi : 10.1111/j.1365-2044.2007.05055.x .
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List Of Hepato-Biliary Diseases
Wikipedia
Toxins [ edit ] This includes mostly drug-induced hepatotoxicity , (DILI) which may generate many different patterns over liver disease, including cholestasis necrosis acute hepatitis and chronic hepatitis of different forms, cirrhosis Effects of Acetaminophen (Tylenol) other rare disorders like focal nodular hyperplasia , Hepatic fibrosis , peliosis hepatis and veno-occlusive disease . Liver damage is part of Reye syndrome . Tumours [ edit ] Malignant neoplasm of liver and intrahepatic bile ducts. ... End-stage liver disease [ edit ] Chronic liver diseases like chronic hepatitis , chronic alcohol abuse or chronic toxic liver disease may cause liver failure and hepatorenal syndrome fibrosis and cirrhosis of liver Cirrhosis may also occur in primary biliary cirrhosis . ... Metabolic diseases [ edit ] metabolic diseases (chapter E in ICD-10) haemochromatosis Wilson's disease Gilbert's syndrome Crigler–Najjar syndrome Dubin–Johnson syndrome Rotor syndrome Vascular disorders [ edit ] chronic passive congestion of liver central haemorrhagic necrosis of liver infarction of liver peliosis hepatis veno-occlusive disease portal hypertension Budd–Chiari syndrome Cysts [ edit ] Congenital cystic disease of the liver Cysts caused by Echinococcus Polycystic liver disease Others [ edit ] Amyloid degeneration of liver Gallbladder and biliary tract diseases [ edit ] malignant neoplasm of the gallbladder malignant neoplasm of other parts of biliary tract extrahepatic bile duct ampulla of Vater cholelithiasis cholecystitis others (excluding postcholecystectomy syndrome ), but including other obstructions of the gallbladder (like strictures) hydrops , perforation , fistula cholesterolosis biliary dyskinesia ICD-10 code K83: other diseases of the biliary tract : cholangitis (including ascending cholangitis and primary sclerosing cholangitis ) obstruction, perforation , fistula of biliary tract (bile duct) spasm of sphincter of Oddi biliary cyst biliary atresia References [ edit ] ICD-10 codes K70-K77: Liver Diseases [1] 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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Dysplastic Nevus Syndrome
Wikipedia
Dysplastic nevus syndrome Other names Atypical mole syndrome (AMS), familial atypical multiple mole–melanoma (FAMMM) syndrome, familial melanoma syndrome, [1] B-K mole syndrome, atypical mole syndrome Large numbers of moles are characteristic features of familial atypical multiple mole–melanoma syndrome. Specialty Oncology , medical genetics Dysplastic nevus syndrome , also known as familial atypical multiple mole–melanoma (FAMMM) syndrome, is an inherited cutaneous condition described in certain families, and characterized by unusual nevi and multiple inherited melanomas . [2] [3] First described in 1820, the condition is inherited in an autosomal dominant pattern, and caused by mutations in the CDKN2A gene . ... The diagnosis of dysplastic nevus syndrome is based on clinical presentation and family history. ... ISBN 978-0-7216-2921-6 . ^ a b Czajkowski, R., FAMMM Syndrome: Pathogenesis and Management , Dermatologic Surgery, Vol. 30 Issue 2 p2, p291-296, 2004. ^ a b "FAMMM : In Familial Cancer Syndromes. ... PMID 21552679 . ^ "FAMMM : In Familial Cancer Syndromes. DL Riegert-Johnson and others.
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Mucopolysaccharidosis
Wikipedia
MPS I S, Scheie syndrome , is the mildest form of MPS I. ... Some affected individuals also have obstructive airway disease and sleep apnea. Persons with Scheie syndrome can live into adulthood. MPS I H-S, Hurler–Scheie syndrome , is less severe than Hurler syndrome alone. ... Although no studies have been done to determine the frequency of MPS I in the United States, studies in British Columbia estimate that 1 in 100,000 babies born has Hurler syndrome. The estimate for Scheie syndrome is one in 500,000 births and for Hurler-Scheie syndrome it is one in 115,000 births. ... MPS VI [ edit ] Children with MPS VI, Maroteaux–Lamy syndrome , usually have normal intellectual development but share many of the physical symptoms found in Hurler syndrome . ... External links [ edit ] Classification D ICD - 10 : E76 ICD - 9-CM : 277.5 MeSH : D009083 v t e Lysosomal storage diseases : Inborn errors of carbohydrate metabolism ( Mucopolysaccharidoses ) Catabolism MPS I Hurler Syndrome , Hurler-Scheie Syndrome , Scheie Syndrome MPS II: Hunter Syndrome MPS III: Sanfilippo Syndrome MPS IV: Morquio Syndrome MPS VI: Maroteaux-Lamy Syndrome MPS VII: Sly Syndrome MPS IX: Hyaluronidase deficiency Authority control LCCN : sh85088232 NDL : 01134892ARSG, NAGLU, RPS27, ARSB, TTK, MPEG1, IDUA, IDS, GUSB, GALNS, SGSH, HGSNAT, GNS, HYAL1, ABCB6, OGA, HYAL2, PDIA5, EIM, TNMD, VPS33A, MAP1LC3A, TFEB, VEGFA, SUMF1, TP53, ARSH, SPAM1, AAVS1, CCL2, DPEP1, APRT, TSPO, CD34, CHRM3, CSF2, CTSK, CYLD, EGF, NT5E, EGFR, EXTL2, EXTL3, GH1, LAMA5, LAMC2, ALAS2, MFT2
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9q31.1q31.3 Microdeletion Syndrome
Orphanet
9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.
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Van Den Bosch Syndrome
Omim
The components of this syndrome, which is transmitted as an X-linked recessive, as described by Van den Bosch (1959) are: (1) mental deficiency, (2) choroideremia, (3) acrokeratosis verruciformis, (4) anhidrosis, and (5) skeletal deformity. An interesting and possibly important point is that at least 3 of these 5 components have been described as isolated X-linked traits. The syndrome has been observed in a single kindred. Close linkage of several loci and a small X-chromosome deletion would explain this disorder as a 'contiguous gene syndrome.' The availability of increasingly refined banding techniques might permit testing this idea. Skel - Skeletal deformity Eyes - Choroideremia Inheritance - X-linked. ? contiguous gene syndrome Neuro - Mental deficiency Skin - Acrokeratosis verruciformis - Anhidrosis ▲ Close
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Fried Syndrome
Orphanet
Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Epidemiology Prevalence is unknown, but the syndrome was originally described in a large Scottish family. ... Diagnostic methods The presence of basal ganglia calcifications, detectable by CT scan, and elevated CSF protein levels are characteristic features of Fried syndrome and should prompt genetic analysis when found in individuals with XLMR.
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Osteopetrosis
Wikipedia
The defects are very common and include neuropathies due to cranial nerve entrapment , osteoarthritis , and carpal tunnel syndrome. About 40% of patients will experience recurrent fractures of their bones. 10% of patients will have osteomyelitis of the mandible . ... Among the differential diagnosis are hereditary ostoesclerosing dysplasias such as; neuropathic infantile osteopetrosis, infantile osteopetrosis with renal tubular acidosis, infantile osteopetrosis with immunodeficiency, infantile osteopetrosis with leukocyte adhesion deficiency syndrome (LAD-III), pyknodysostosis (osteopetrosis acro-osteolytica), osteopoikilosis ( Buschke–Ollendorff syndrome ), osteopathia striata with cranial sclerosis, mixed sclerosing skeletal dysplasias , progressive diaphyseal dysplasia ( Camurati–Engelmann disease ), SOST-related sclerosing skeletal dysplasias . [5] Besides, the differential diagnosis includes acquired conditions that induce osteosclerosis such as osteosclerotic metastasis notably carcinomas of the prostate gland and breast, Paget's disease of bone , myelofibrosis (primary disorder or secondary to intoxication or malignancy), Erdheim-Chester disease, osteosclerosing types of osteomyelitis , sickle cell disease , hypervitaminosis D, and hypoparathyroidism . [14] Treatment [ edit ] It was the 1st genetic disease treated with hematopoietic stem cell transplantation (Osteoclasts are derived from hematopoietic precursors). ... Further reading [ edit ] GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis External links [ edit ] Classification D ICD - 10 : Q78.2 ICD - 9-CM : 756.52 OMIM : 166600 259700 MeSH : D010022 DiseasesDB : 9377 External resources eMedicine : med/1692 Patient UK : Osteopetrosis v t e Osteochondrodysplasia Osteodysplasia/ / osteodystrophy Diaphysis Camurati–Engelmann disease Metaphysis Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia Epiphysis Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome Osteopoikilosis Osteopetrosis Other/ungrouped FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome Chondrodysplasia / chondrodystrophy (including dwarfism ) Osteochondroma osteochondromatosis Hereditary multiple exostoses Chondroma / enchondroma enchondromatosis Ollier disease Maffucci syndrome Growth factor receptor FGFR2 : Antley–Bixler syndrome FGFR3 : Achondroplasia Hypochondroplasia Thanatophoric dysplasia COL2A1 collagen disease Achondrogenesis type 2 Hypochondrogenesis SLC26A2 sulfation defect Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Conradi–Hünermann syndrome Other dwarfism Fibrochondrogenesis Short rib – polydactyly syndrome Majewski's polydactyly syndrome Léri–Weill dyschondrosteosis 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 Genetic disorder , membrane: ATPase disorders ATP1 ATP1A2 ( Alternating hemiplegia of childhood ) ATP2 ATP2A1 ( Brody myopathy ) ATP2A2 ( Darier's disease , Acrokeratosis verruciformis ) ATP2C1 ( Hailey–Hailey disease ) ATP7 ATP7A ( Menkes disease ) ATP7B ( Wilson's disease ) ATP13 ATP13A2 ( Kufor–Rakeb syndrome ) Other Osteopetrosis B1 see also ATPase 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 channelsCLCN7, TNFSF11, PLEKHM1, TNFRSF11A, FERMT3, MITF, CSF1, LRRK1, GHR, CA2, OSTM1, TCIRG1, IKBKG, SNX10, LRP5, CSF1R, DHCR24, PTDSS1, ANKH, AMER1, GJA1, ADO, TNFRSF11B, CTSK, IFNG, ACP5, MRGPRF, TRAF6, TYROBP, RBFOX2, GAB2, ARHGEF7, SOST, PSIP1, PDE11A, ASCC1, TREM2, MCOLN1, IGSF23, ATP6V0D2, MIR320A, CCDC154, H3P42, DEGS1, PTPN11, VEGFA, EXTL2, ARF1, ARSA, ATP6V1B1, BCL2, BTF3P11, CD40, CKB, CLC, CLCN1, COL2A1, CSF2, CTNNB1, EXTL3, TSC1, FKBP4, GTF2H4, HLA-A, LEP, MYC, NFATC1, NFKB1, NFKB2, PTH, ACTG2, SLC4A2, SRC, H3P40
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Dravet Syndrome
Wikipedia
PMID 31949137 . ^ "What is Dravet Syndrome?" . Cherry Hill, NJ: Dravet Syndrome Foundation, Inc. ^ Ben-Menachem E (July 2011). "Vaccination and the onset of dravet syndrome" . Epilepsy Currents . 11 (4): 120–2. doi : 10.5698/1535-7511-11.4.120 . ... PMID 11371648 . ^ "Diagnostic Criteria" . Dravet Syndrome Foundation . Archived from the original on 17 March 2015 . Retrieved 17 March 2015 . ^ "Dravet Syndrome Foundation: Treatment" . Archived from the original on 28 December 2015 . ... "The pharmacologic treatment of Dravet syndrome". Epilepsia . 52 Suppl 2: 72–5. doi : 10.1111/j.1528-1167.2011.03007.x .SCN1A, SCN9A, STXBP1, SCN2A, SCN1B, PCDH19, GABRG2, GABRA1, TNRC6A, POMC, PMP22, RAPGEF2, SAMD12, KCNQ2, SCN8A, ADRA1D, PVALB, POLG, SCN2B, KCNQ3, SST, GABRB3, GPR55, PRRT2, TLR1, VIP, LINC01672, CPLX1, EPM2A, B3GNT2, OPN1MW2, SLC12A5, LOH19CR1, GPHN, ARX, EJM2, B3GNTL1, CACNA1G, TSPYL4, ACHE, CDKL5, FOXM1, ALDH7A1, CACNA1A, CACNB4, CHD2, CSTB, CYP2C19, E2F1, EPHA5, FOXG1, MTOR, SLC12A2, GABRA2, GABRD, GAPDH, OPN1MW, IGF1, MECP2, RPS19, SCN7A, SLC2A1, OPN1MW3
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Antiphospholipid Syndrome
Mayo_clinic
During pregnancy, antiphospholipid syndrome also can result in miscarriage and stillbirth. ... Symptoms Signs and symptoms of antiphospholipid syndrome can include: Blood clots in legs (DVT). ... You can also develop the syndrome without an underlying cause. Risk factors Antiphospholipid syndrome is more common in women than in men. Having another autoimmune condition, such as lupus, increases the risk of antiphospholipid syndrome. It's possible to have the antibodies associated with antiphospholipid syndrome without developing signs or symptoms. ... A diagnosis of antiphospholipid syndrome is made only when these antibodies cause health problems.APOH, PPARG, FRMD4A, TSHR, F5, F3, SYCP2L, F2, PTPRO, GPI, ANXA5, TLR4, SH2B2, KLK3, ANXA2, TNF, AGER, CPB2, MTOR, MTHFR, F10, PLG, HT, TFPI, PLAT, SELPLG, ACR, SERPINE1, MOK, LRP8, VWF, HMGB1, VIM, SELP, RAB4A, CCL2, CXCL12, ATXN2, RO60, S100A10, TRIM21, ABCA1, SSB, THBD, TNFRSF1B, NR1I2, ADIPOQ, SH2B3, PROCR, ADAMTS13, TREX1, PTPN22, FOXP3, SLC52A1, IL21, ANXA8, ANXA8L1, PROS1, NOS3, PON1, PLSCR1, HLA-DPB1, GP1BA, GCY, FGA, FCGR2A, F2RL1, EMD, EDN1, DECR1, CRP, CD36, CD1D, CALR, B2M, SERPINC1, AQP4, AMH, HLA-DRB1, HRES1, IDS, MBL2, PF4, PC, SERPINB2, TNFRSF11B, MYD88, MSN, MPL, LPA, IFNG, LGALS9, LCT, CXCL10, CXCL8, IL1B, IGFBP1, IGF1, C20orf181
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Larsen Syndrome
Omim
Tsang et al. (1986) reported 'new' oral and craniofacial findings in a patient with Larsen syndrome. Stanley et al. (1988) described mixed hearing loss in a child with Larsen syndrome. ... Becker et al. (2000) raised the possibility that the mild manifestation of Larsen syndrome in the father was due to mosaicism. Inheritance Dominant inheritance of Larsen syndrome seemed certain from the reports of Latta et al. (1971) and of McFarlane (1947). ... Petrella et al. (1993) provided follow-up on 2 sibs with Larsen syndrome reported by Bloch and Peck (1965). ... History One of the earliest reports of Larsen syndrome may have been that of McFarland (1929).