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Mpdu1-Cdg
Orphanet
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. Epidemiology It has been described in four children. Etiology The syndrome is caused by mutations in the MPDU1 gene, localised to the p13.1-p12 region of chromosome 17.
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Hereditary Elliptocytosis
Wikipedia
External links [ edit ] Classification D ICD - 10 : D58.1 ICD - 9-CM : 282.1 OMIM : 611804 MeSH : D004612 DiseasesDB : 4172 External resources MedlinePlus : 000563 eMedicine : ped/987 med/648 Hereditary Elliptocytosis Image of hereditary elliptocytosis MedlinePlus Entry v t e Diseases of red blood cells ↑ Polycythemia Polycythemia vera ↓ Anemia Nutritional Micro- : Iron-deficiency anemia Plummer–Vinson syndrome Macro- : Megaloblastic anemia Pernicious anemia Hemolytic (mostly normo- ) Hereditary enzymopathy : Glucose-6-phosphate dehydrogenase deficiency glycolysis pyruvate kinase deficiency triosephosphate isomerase deficiency hexokinase deficiency hemoglobinopathy : Thalassemia alpha beta delta Sickle cell disease / trait Hereditary persistence of fetal hemoglobin membrane : Hereditary spherocytosis Minkowski–Chauffard syndrome Hereditary elliptocytosis Southeast Asian ovalocytosis Hereditary stomatocytosis Acquired AIHA Warm antibody autoimmune hemolytic anemia Cold agglutinin disease Donath–Landsteiner hemolytic anemia Paroxysmal cold hemoglobinuria Mixed autoimmune hemolytic anemia membrane paroxysmal nocturnal hemoglobinuria Microangiopathic hemolytic anemia Thrombotic microangiopathy Hemolytic–uremic syndrome Drug-induced autoimmune Drug-induced nonautoimmune Hemolytic disease of the newborn Aplastic (mostly normo- ) Hereditary : Fanconi anemia Diamond–Blackfan anemia Acquired: Pure red cell aplasia Sideroblastic anemia Myelophthisic Blood tests Mean corpuscular volume normocytic microcytic macrocytic Mean corpuscular hemoglobin concentration normochromic hypochromic Other Methemoglobinemia Sulfhemoglobinemia Reticulocytopenia v t e Genetic disorder , membrane: Solute carrier disorders 1-10 SLC1A3 Episodic ataxia 6 SLC2A1 De Vivo disease SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4 / Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria 11-20 SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A5 Salla disease SLC17A8 DFNA25 21-40 SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload see also solute carrier family v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3 Myosin Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis , keratoderma , hyperkeratosis ): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E ( Ichthyosis bullosa of Siemens ) KRT3 ( Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10 ( Epidermolytic hyperkeratosis ) KRT12 ( Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma multiplex ) KRT18 ( Familial cirrhosis ) KRT81 / KRT83 / KRT86 ( Monilethrix ) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures 3 Desmin : Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP : Alexander disease Peripherin : Amyotrophic lateral sclerosis 4 Neurofilament : Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin : Long QT syndrome 4 Hereditary spherocytosis 1 Catenin APC Gardner's syndrome Familial adenomatous polyposis plakoglobin ( Naxos syndrome ) GAN ( Giant axonal neuropathy ) Other desmoplakin : Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin : Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome : PCNT ( Microcephalic osteodysplastic primordial dwarfism type II ) Related topics: Cytoskeletal proteins
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Duroziez's Disease
Wikipedia
v t e Congenital heart defects Heart septal defect Aortopulmonary septal defect Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window Atrial septal defect Sinus venosus atrial septal defect Lutembacher's syndrome Ventricular septal defect Tetralogy of Fallot Atrioventricular septal defect Ostium primum Consequences Cardiac shunt Cyanotic heart disease Eisenmenger syndrome Valvular heart disease Right pulmonary valves stenosis insufficiency absence tricuspid valves stenosis atresia Ebstein's anomaly Left aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation Other Underdeveloped heart chambers right left Uhl anomaly Dextrocardia Levocardia Cor triatriatum Crisscross heart Brugada syndrome Coronary artery anomaly Anomalous aortic origin of a coronary artery Ventricular inversion This article about a medical condition affecting the circulatory system is a stub .
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Retrocalcaneal Bursitis
Wikipedia
ISBN 9780071741460 . v t e Soft tissue disorders Capsular joint Synoviopathy Synovitis / Tenosynovitis Calcific tendinitis Stenosing tenosynovitis Trigger finger De Quervain syndrome Transient synovitis Ganglion cyst osteochondromatosis Synovial osteochondromatosis Plica syndrome villonodular synovitis Giant-cell tumor of the tendon sheath Bursopathy Bursitis Olecranon Prepatellar Trochanteric Subacromial Achilles Retrocalcaneal Ischial Iliopsoas Synovial cyst Baker's cyst Calcific bursitis Noncapsular joint Symptoms Ligamentous laxity Hypermobility Enthesopathy / Enthesitis / Tendinopathy upper limb Adhesive capsulitis of shoulder Impingement syndrome Rotator cuff tear Golfer's elbow Tennis elbow lower limb Iliotibial band syndrome Patellar tendinitis Achilles tendinitis Calcaneal spur Metatarsalgia Bone spur other/general: Tendinitis / Tendinosis Nonjoint Fasciopathy Fasciitis : Plantar Nodular Necrotizing Eosinophilic Fibromatosis / contracture Dupuytren's contracture Plantar fibromatosis Aggressive fibromatosis Knuckle pads
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Ischial Bursitis
Wikipedia
ISBN 9780071741460 . v t e Soft tissue disorders Capsular joint Synoviopathy Synovitis / Tenosynovitis Calcific tendinitis Stenosing tenosynovitis Trigger finger De Quervain syndrome Transient synovitis Ganglion cyst osteochondromatosis Synovial osteochondromatosis Plica syndrome villonodular synovitis Giant-cell tumor of the tendon sheath Bursopathy Bursitis Olecranon Prepatellar Trochanteric Subacromial Achilles Retrocalcaneal Ischial Iliopsoas Synovial cyst Baker's cyst Calcific bursitis Noncapsular joint Symptoms Ligamentous laxity Hypermobility Enthesopathy / Enthesitis / Tendinopathy upper limb Adhesive capsulitis of shoulder Impingement syndrome Rotator cuff tear Golfer's elbow Tennis elbow lower limb Iliotibial band syndrome Patellar tendinitis Achilles tendinitis Calcaneal spur Metatarsalgia Bone spur other/general: Tendinitis / Tendinosis Nonjoint Fasciopathy Fasciitis : Plantar Nodular Necrotizing Eosinophilic Fibromatosis / contracture Dupuytren's contracture Plantar fibromatosis Aggressive fibromatosis Knuckle pads
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Foerster's Syndrome
Wikipedia
WikiProject Neurology may be able to help recruit an expert. ( February 2009 ) Foerster's syndrome is the name used by Arthur Koestler in his account [1] of the compulsive punning first described [2] by the German neurosurgeon Otfrid Foerster .
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Branchial Arch Syndrome, X-Linked
Omim
Zelante et al. (1993) reported another patient with this syndrome. Puri and Phadke (2002) reported a boy with mild mandibulofacial dysostosis, growth retardation with microcephaly, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion, and bilateral cryptorchidism.
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Soft Tissue Sarcoma
Gard
People who have previously received radiation therapy and those with certain inherited disorders (such as Gorlin syndrome , Gardner syndrome , Li-Fraumeni syndrome , Tuberous sclerosis , neurofibromatosis type 1 , and Werner syndrome ) have an increased risk of developing a soft tissue sarcoma.TP53, SMARCA4, PIK3CA, CIC, MDM2, HRAS, PAX3, MDM4, TNF, RB1, CSF2, SOX2, NF1, MCL1, FLT4, JUN, MAML3, IFNG, ZNF667-AS1, PRAME, GSTP1, EWSR1, KIT, PDGFRA, CDKN2A, MLH1, PMS2, WT1, WRN, IL6, ATM, CHEK2, GNAS, SS18, DICER1, TBC1D9, CTNNB1, SYT1, FOXO1, CDK4, SMARCB1, PTEN, RAF1, SSX2, GDF5, ERBB2, SDHA, SDHB, SDHC, EGFR, ABCB1, CD274, BMPR1B, KRAS, DUX4, AKT1, MET, ALK, IGF1R, IGF1, C11orf65, CCNB3, CCND1, VEGFA, FUS, BCOR, BRAF, FLI1, HIF1A, YAP1, SSX2B, MYC, IGF2, ZHX2, ATF1, ERG, BCL2, KDR, SMUG1, PIK3CG, GLI1, PIK3CD, CD248, PIK3CB, BRCA2, CRP, DDIT3, CDKN1A, BRCA1, CD44, FN1, MSH2, MUC4, CD99, H3-3A, EGF, TFE3, NTRK1, RET, NFATC2, H3-3B, H3P10, PARP1, YWHAE, PATZ1, CD34, ETV4, PDCD1, PDGFB, MTOR, TSPAN31, MIR182, NRAS, DES, STAT3, CTAG1A, JAZF1, CAV1, NKX2-2, PTGS2, CD6, ASPSCR1, FOLH1, PROM1, EZR, VEGFC, PAX7, NANS, LAG3, SERPINE1, CTAG1B, COL1A1, TLE1, TERT, RASSF1, MYOG, PLIN1, NUTM1, FGFR4, NME1, HGF, UVRAG, VIM, CSF1R, STS, EZH2, LOC110806263, MAPK14, HTC2, COL18A1, CKAP4, MAPK1, MAP2K7, ANO1, RPE65, ESR1, TNFSF10, SRC, STMN1, TAF15, MGMT, CDKN2B, ALDH1A1, TAZ, TP63, FOXP1, SLC12A9, HBEGF, PDGFRB, MME, ATRX, ITGAM, MMP9, MRC1, S100B, S100A1, LINC01194, FLII, ZNF395, NOS2, CCN3, VGLL3, CREB3L2, KMT2A, PERCC1, KRT7, KLRC4-KLRK1, RPL17-C18orf32, MEF2A, NUTM2A, MIR622, MITF, MIR206, MMP1, NFE2L2, ABCC1, LIN28B, MSH3, MST1R, MTAP, MYCN, MYOD1, CREB3L1, NCAM1, NPM1, TYMS, EGLN1, SNCA, RPL17, ABL1, MBD2, SAI1, CCL2, BCL10, BANF1, TNFRSF10B, SKI, SMARCA1, LGR5, CAVIN2, RNASE3, SPP1, SSX1, NR4A3, CXCR4, AURKA, XPO1, ZEB1, TEK, TGFB1, TGFBR3, THY1, LATS1, RELA, ROR1, TACC3, SERPINA5, PCNA, MAGEC2, PECAM1, LATS2, PART1, KLRK1, OGA, TRIO, PLAU, PLOD2, POU5F1, HDAC9, PTPA, PPP2R5E, MAPK3, MAP2K1, PTK2, PVT1, RAD51, TSPAN1, RAG2, SPATA2, RANBP2, NCOA2, S100A4, CSPG4, DMD, ALB, FOS, IL4, F3, FLT1, IL2, CASP8, FOXM1, CLDN4, CMD1B, ETV6, FAP, DHCR24, FGFR1, ANPEP, FGF2, COL11A2, HSP90AA1, IDH1, APC, CRK, FLT3, GADD45A, GABPA, CDKN1B, EPHB2, CD68, CA9, PLIN2, ERCC2, ERCC1, CD82, ERCC5, C3CER1, POT1, SH2B1, KDM1A, RNF19A, CAMP, ZNF281, CBL, SUZ12, CASR, MGA, CRTC1, CASP3, LPAR3, MAPK8IP2, CASP9, SIRT1, POLDIP2, TARDBP, HEY1, CAPN6, KCNJ4, CALM3, ATRAID, PIWIL2, BTC, LAMTOR1, PTTG1IP, FEV, UGT1A1, KRT20, MOV10L1, CALB2, FGFRL1, TPPP3, GDE1, ISYNA1, CALD1, KLF3, CYFIP2, GP6, PHF11, TMED7, FOXP3, F11R, OBP2A, CALM1, NXT1, DROSHA, SIRT2, POLM, TNFRSF21, B3GAT1, CALM2, EML4, TUSC2, ATF6, GDF15, CLOCK, TCL1B, RGS6, ESPL1, SART3, CD28, HDAC4, PCLAF, KEAP1, MS4A1, MELK, RUSC2, NR1I3, CCS, CD14, EEF1E1, NAPSA, ADGRG2, ABCG2, ENDOU, CD63, CD47, GPRC5A, USP6, CD40, P2RX6, AURKB, PIWIL1, COPB2, KLF4, CD163, SLIT2, GRAP2, KCNK6, G3BP1, ZNF197, MMRN1, LYVE1, OS9, CCNE1, SLC27A5, TDRKH, CNMD, TOPBP1, ZWINT, CCND3, CCND2, DUSP12, FBXW7, CBX3, CHSY1, KRIT1, CCK, SUB1, HPSE, TRIM13, PLK2, TUBB3, MYL9, NDC80, CD247, CD3E, CD3D, CIB2, CIB1, ZNRD2, MRPL28, AHSA1, MYL12A, DCTN6, CD1D, NES, ZNF654, CMAS, LARP6, MIR127, ABCB5, C16orf96, TICAM2, GSTK1, XIAP, ANXA5, MIR130B, CHAMP1, MIR145, MIR149, ANGPT1, MIR210, MIR221, MIR222, FAM83H, MRGPRX1, MIR30C2, DDX53, SIK1, TTL, IRX2, AMOT, AQP5, OXER1, FLCN, BIRC5, RPSAP52, AQP1, GPRC6A, FAS, RICTOR, CASC2, MIR30C1, MIR34B, IMPACT, LINC02210-CRHR1, TMED7-TICAM2, MIR761, ADARB1, PSC, H3P12, SIK1B, ACTB, ACAN, MTCO2P12, ERVK-32, ABL2, MXLPO, H3P9, H3P23, MIR1226, OS4, EIF2AK4, POU5F1P4, VN1R17P, GPR166P, MIR133B, MIR370, MIR375, POU5F1P3, CXADRP1, KLLN, PRB2, AMHR2, AMFR, NUTM2D, CCR2, AHR, PRIMA1, AMER1, CD109, SMURF2, ANKRD36B, CCAR2, PRUNE1, LGR6, ERVK-6, DCLRE1C, ATR, MRTFB, PINK1, C11orf95, ARSF, FSD1, CORO7, LIN28A, MIB1, AHRR, GPR151, KCMF1, ZNF331, BATF3, BPI, DEPDC1, DEPDC1B, FOXL2, PRDM10, ODF2L, BMI1, ACKR3, AZGP1, SLURP1, ABHD6, SCYL1, CAMKMT, GRHL2, PPP1R2C, EXOSC6, MYL12B, NACC1, ARAP1, MRGPRX3, MRGPRX4, ANTXR2, PRAP1, PDCD1LG2, PIK3AP1, TPPP2, RBM45, LRRC15, SLCO6A1, AFAP1L1, MUC16, HAUS8, NAPRT, ATP23, RND3, IL33, ARHGAP1, NKD2, RITA1, MAML2, MINDY4, ABRAXAS1, FSD1L, PARP9, ZFP91, ARR3, MPIG6B, PER2, BAP1, CDH11, PHF1, FRZB, ENPP2, FPR1, PGF, PGR, FOSB, SERPINB9, GAB1, MLANA, PLAGL1, PLAUR, PLD2, PLG, FHIT, FSHR, PDGFA, ESD, OPRM1, NPY1R, GPC3, GHRHR, NTRK3, GH1, ROR2, P4HB, GABRG2, PEBP1, GFAP, GCG, PAX5, GATA3, GAS6, GPC5, POU4F1, PPARG, EXTL3, PTX3, PVR, FABP3, RAC1, RAD51B, F2R, RARA, PPP1R1A, RASA1, ETV5, RBL2, RBP1, ESRRB, REST, PTPRG, PTPRC, PTPN11, ACSL3, ACSL4, PSMD9, PSMD4, FAU, FCGR3A, MAPK8, FCGR3B, FER, PRKDC, PRKAR1A, PRF1, FES, FGF1, GCLC, NPAS2, GLUL, CXCR2, MCM3, MDK, ING1, ILK, IL15, IL10, IL3RA, MMP8, MKI67, IL2RG, FOXO4, RBPJ, IGFBP7, MMP2, MCM2, ING2, MCAM, MAPT, MAGEA3, SMAD4, MAD2L1, LSS, LOX, LMNA, LGALS1, LEP, LCP1, LCK, CXCL10, ITGB3, JAK2, MMP3, IGFBP3, GSK3B, HIC1, MYL2, HSPB1, HNRNPM, HPRT1, HK2, NFATC1, HDGF, MMP11, NFKBIA, NGFR, H2AX, NMB, MSH6, NOS1, IRF8, MYCL, ID2, MXI1, MUC6, MUC1, MTTP, MTHFR, COX2, IDH2, IFI27, MST1, IFNA1, IFNA13, IGFALS, IGFBP2, MMP14, ESR2, ROM1, CDK2, UQCRH, TWIST1, TYK2, CPE, TYRO3, UBE2I, NR1H2, MAP3K8, TTF1, COMP, COL9A3, COL9A2, VIP, VIPR1, WEE1, HIRA, TSG101, ROS1, TLN1, CSF2RA, THBD, THBS1, THBS2, CSF1, TIA1, TM7SF2, TSC2, CRHR1, TOP2A, CREB1, TPM3, TPM4, HSP90B1, WNT1, COL9A1, ABCC2, CUL4A, ARID1A, AXIN1, KIF22, FZD4, ULK1, CDKN2C, CDKN1C, XPA, PLPP2, DYNLL1, IRS2, ABCC3, CDK9, FBP2, CEL, CFL1, HMGA2, SLC25A16, CHEK1, KAT6A, TFPI2, FZD3, MAFK, AIMP2, SCG2, CLU, PAX8, LEPQTL1, ZAP70, CLIC1, YES1, CSF2RB, TGFA, TFPI, SRSF1, ELAVL1, SELE, SELP, SFRP1, SFRP2, SFRP4, FBXW4, FSCN1, ATN1, SLAMF1, SLC9A3, SLC12A3, DPP4, DHFR, CTTN, ENG, CX3CL1, EPAS1, SCN8A, SCN1A, CLEC11A, ATXN2, STOM, SALL2, EPHB4, S100A11, S100A10, RREB1, RRBP1, RPS6, ERN1, SNAI1, SOD1, CSF3, TAF12, STK3, STK4, CXADR, SYN1, CUX1, ADAM17, CTLA4, SOD2, CCN2, TCF21, VPS72, PPP1R11, CSK, TFAP2A, STAT6, STAT5B, STAT5A, CYP3A4, STAT1, DAXX, BRINP1, DCN, SSTR2, SST, DCTN1, SPG7, SP3, SP1, SOX10, SOX9, TIMM8A, AADAC
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Kat6b Disorders
Gene_reviews
KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. ... Clinical Characteristics Clinical Description Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are part of a broad phenotypic spectrum, and the variable expressivity of KAT6B disorders is being increasingly recognized. ... Subsequently, the Young-Simpson syndrome was described [Young & Simpson 1987]. Later the Young-Simpson syndrome was renamed the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome (SBBYSS) [Say & Barber 1987, Biesecker 1991], which is discussed in this GeneReview . ... Mowat-Wilson syndrome is typically the result of a de novo dominant pathogenic variant.
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Wt1 Disorder
Gene_reviews
Note: "Congenital nephrotic syndrome" is nephrotic syndrome manifesting in the first three months of life. ... Nephrotic syndrome (proteinuria, hypoalbuminemia, edema, and hyperlipidemia) that does not respond to standard steroid therapy 2. ... SRNS results in irreversible and progressive decline of renal function and inevitably leads to ESRD. Congenital nephrotic syndrome (nephrotic syndrome that presents in the first 3 months of life) is more rapidly progressive, resulting in ESRD within weeks to months. ... Given the extensive clinical overlap between these clinical diagnoses and molecular characterization of their shared genetic etiology, Frasier syndrome, Denys-Drash syndrome, and Meacham syndrome are no longer useful clinical diagnoses. However, these terms may still be used in the medical literature to refer to the following general phenotypic constellations: Frasier syndrome. SRNS, 46,XY CGD, and gonadoblastoma Denys-Drash syndrome.
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Euthyroid Sick Syndrome
Wikipedia
endocrinological condition Euthyroid sick syndrome Other names Sick euthyroid syndrome (SES); thyroid allostasis in critical illness, tumours, uremia and starvation (TACITUS); nonthyroidal illness syndrome (NTIS); low T 3 low T 4 syndrome Specialty Endocrinology Euthyroid sick syndrome ( ESS ) is a state of adaptation or dysregulation of thyrotropic feedback control [1] wherein the levels of T3 and/or T4 are abnormal, but the thyroid gland does not appear to be dysfunctional. ... "Mechanisms behind the non-thyroidal illness syndrome: an update" . The Journal of Endocrinology . 205 (1): 1–13. doi : 10.1677/JOE-09-0412 . ... S2CID 35344744 . ^ Ruiz-Núñez B, Tarasse R, Vogelaar EF, Janneke Dijck-Brouwer DA, Muskiet FA (20 March 2018). "Higher Prevalence of "Low T3 Syndrome" in Patients With Chronic Fatigue Syndrome: A Case-Control Study" . ... "The molecular basis of the non-thyroidal illness syndrome" . The Journal of Endocrinology . 225 (3): R67–81. doi : 10.1530/JOE-15-0133 . ... PMID 25400957 . ^ Yu, Run (2018). "High T3 Syndrome Associated with Metastatic Papillary and Poorly Differentiated Thyroid Cancer" (PDF) .
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Febrile Seizure
Wikipedia
In general, the child's temperature is greater than 38 °C (100.4 °F), [4] although most have a fever of 39 °C (102.2 °F) or higher. [6] Most febrile seizures will occur during the first 24 hours of developing a fever. [6] Signs of typical seizure activity include loss of consciousness , opened eyes which may be deviated or appear to be looking towards one direction, irregular breathing, increased secretions or foaming at the mouth, and the child may look pale or blue ( cyanotic ). [4] [6] They may become incontinent (wet or soil themselves) and may also vomit. [4] Types [ edit ] There are two types of febrile seizures: simple and complex. [5] Febrile status epilepticus is a subtype of complex febrile seizures that lasts for longer than 30 minutes. [7] It can occur in up to 5% of febrile seizure cases. [13] Types [6] [14] [7] Simple Complex Characteristics Generalized tonic clonic movements (stiffening and shaking of arms and legs) Focal movements (usually affecting a single limb or side of the body) Duration <15 minutes (with most lasting <5 minutes) >15 minutes Postictal state None or short period of drowsiness Longer period of drowsiness; may experience Todd's paralysis Recurrence No recurrence in the first 24 hours May recur in the first 24 hours Causes [ edit ] Genetic associations [15] Type OMIM Gene FEB3A 604403 SCN1A FEB3B 604403 SCN9A FEB4 604352 GPR98 FEB8 611277 GABRG2 Febrile seizures are due to fevers, [12] usually those greater than 38 °C (100.4 °F). [16] The cause of the fevers is often a viral illness. [1] The likelihood of a febrile seizure is related to how high the temperature reaches. [1] [6] Some feel that the rate of increase is not important [1] while others feel the rate of increase is a risk factor. [17] This latter position has not been proven. [17] In children, illnesses that often cause a fever include middle ear infections and viral upper respiratory infections . [5] Other infections associated with febrile seizures include Shigellosis , Salmonellosis , and Roseola . [5] Although the exact mechanism is unknown, it is speculated that these infections may affect the brain directly or via a neurotoxin leading to seizures. [5] There is a small chance of a febrile seizure after certain vaccines . [18] The risk is only slightly increased for a few days after receiving one of the implicated vaccines during the time when the child is likely to develop a fever as a natural immune response . [6] Implicated vaccines include: [18] [6] measles/mumps/rubella/varicella combined diphtheria/tetanus/acellular pertussis/polio/ Haemophilus influenzae type b diphtheria-tetanus-whole-cell pertussis , which is not used in North America anymore some versions of the pneumococcal vaccine some types of inactivated influenza vaccine It was previously thought that febrile seizures were more likely to occur with the combined MMRV vaccine, but recent studies have found there to be no significant increase. [19] Overall, febrile seizures triggered by vaccines are uncommon. [19] Children who have a genetic predisposition towards febrile seizures are more likely to have one after vaccination. [19] The seizures occur, by definition, without an intracranial infection or metabolic problems. [1] They run in families with reported family history in approximately 33% of people. [1] [6] Several genetic associations have been identified, [15] including GEFS+ and Dravet Syndrome . [7] Possible modes of inheritance for genetic predisposition to febrile seizures include autosomal dominance with reduced penetrance and polygenic multifactorial inheritance . [20] [6] An association with iron deficiency has also been reported, particularly in the developing world. [21] [22] Mechanism [ edit ] The exact underlying mechanism of febrile seizures is still unknown, but it is thought to be multi-factorial involving genetic and environmental factors. [6] [7] Speculation includes immaturity of the central nervous system at younger ages, making the brain more vulnerable to the effects of fever. [6] [20] The increased activity of neurons during rapid brain development , may help explain why children, particularly younger than age 3, are prone to febrile seizures, with occurrences decreasing after age 5. [6] Other proposed mechanisms include the interactions of inflammatory mediators , particularly cytokines , which are released during a fever, causing elevated temperatures in the brain, which may somehow lead to a seizure. [7] [8] Specific cytokines implicated include elevated CSF IL-1β and serum IL-6 . [8] Diagnosis [ edit ] The diagnosis is made by eliminating more serious causes of seizure and fever: in particular, meningitis and encephalitis . [14] However, in children who are immunized against pneumococcal and Haemophilus influenzae , the risk of bacterial meningitis is low. [7] If a child has recovered and is acting normally, bacterial meningitis is very unlikely, making further procedures such as a lumbar puncture unnecessary. [6] Diagnosis involves gathering a detailed history including the value of highest temperature recorded, timing of seizure and fever, seizure characteristics, time to return to baseline, vaccination history, illness exposures, family history, etc.; and performing a physical exam that looks for signs of infection including meningitis and neurological status. [6] Blood tests, imaging of the brain and an electroencephalogram are generally not needed. [1] [14] However, for complex febrile seizures, EEG and imaging with an MRI of the brain may be helpful. [20] [23] Lumbar puncture is recommended if there are obvious signs and symptoms of meningitis or if there is high clinical suspicion. [14] However, lumbar puncture is an option that may be considered in children younger than 12 months of age since signs and symptoms of meningitis may be atypical, if the child does not return to baseline, or if the child lacks immunization against Haemophilus influenzae and pneumococcal or vaccination status is unknown. [14] [5] [6] Differential diagnosis includes other causes of seizures such as CNS infections (i.e. meningitis, encephalitis), metabolic disturbances (i.e. electrolyte imbalances ), CNS trauma , drug use and/or withdrawal, genetic conditions (i.e. ... External links [ edit ] Classification D ICD - 10 : R56.0 ICD - 9-CM : 780.31 OMIM : 604352 MeSH : D003294 DiseasesDB : 4777 External resources MedlinePlus : 000980 eMedicine : neuro/134 v t e Seizures and epilepsy Basics Seizure types Aura (warning sign) Postictal state Epileptogenesis Neonatal seizure Epilepsy in children Management Anticonvulsants Investigations Electroencephalography Epileptologist Personal issues Epilepsy and driving Epilepsy and employment Seizure types Focal Seizures Simple partial Complex partial Gelastic seizure Epilepsy Temporal lobe epilepsy Frontal lobe epilepsy Rolandic epilepsy Nocturnal epilepsy Panayiotopoulos syndrome Vertiginous epilepsy Generalised Tonic–clonic Absence seizure Atonic seizure Automatism Benign familial neonatal seizures Lennox–Gastaut syndrome Myoclonic astatic epilepsy Epileptic spasms Status epilepticus Epilepsia partialis continua Complex partial status epilepticus Myoclonic epilepsy Progressive myoclonus epilepsy Dentatorubral–pallidoluysian atrophy Unverricht–Lundborg disease MERRF syndrome Lafora disease Juvenile myoclonic epilepsy Non-epileptic seizure Febrile seizure Psychogenic non-epileptic seizure Related disorders Sudden unexpected death in epilepsy Todd's paresis Landau–Kleffner syndrome Epilepsy in animals Organizations Citizens United for Research in Epilepsy (US) Epilepsy Action (UK) Epilepsy Action Australia Epilepsy Foundation (US) Epilepsy Outlook (UK) Epilepsy Research UK Epilepsy Society (UK) 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 channelsSCN1A, GABRG2, SCN2A, SCN1B, STX1B, ANO3, IMPA2, HCN1, SLC12A5, IL1B, PIGH, HCN2, AVP, NPY, GOT1, GOT2, CASP12, ACTB, ADGRV1, CPA6, SCN9A, GABRD, GABRB3, CD46, GRIN2A, CHD2, DYRK1A, GABRA1, IFI44L, PCDH19, TRNK, ACADM, MBD5, VPS11, KCNQ3, TBC1D24, KCNA1, NEUROD2, PIGP, SLC35C1, SLC6A3, CACNA1H, JRK, CASK, CPLX1, TBCD, STXBP1, CDKL5, ERLIN2, PNKP, SLC6A1, ASXL2, SLC2A1, SCN8A, RPS6KA3, CILK1, POGZ, SRPX2, RSRC1, PHIP, SETD5, IL6, PIGQ, EFHC1, GPT2, TRIM8, SIK1, KCTD7, ARX, RNU12, CLCN2, CHAT, GLS, GNAO1, GRIN1, SLC25A22, CACNB4, CACNA1A, MBOAT7, MIR29B2CHG, AUH, ATP1A3, SCN1A-AS1, APP, ANO3-AS1, HS6ST2, PRRT2, IL1A, IL10, TNF, IL1RN, APOE, HMGB1, IL1R1, FEB1, IL4, FGF13, DPP4, FEB2, CXCL8, CHRNA4, MEF2C, MMP9, TIMP1, IFNG, GAS5, ZGLP1, RECQL4, LGI1, ZBED1, P2RX5-TAX1BP3, AP3M2, HEMGN, MIR223, STK38, MIR146A, SLC17A7, GKN1, EHMT1, PREX2, P2RX2, SEZ6, TBC1D9, NLRP3, P2RX6, MARCHF1, ENOSF1, CAPNS2, CHPF, ABCB1, ARID1A, DNMT1, HRC, GRM1, GRIN2B, GLP1R, GCG, GABRA5, GABBR1, FGF2, PTK2B, EZH2, EMP1, DPT, DNMT3A, CSNK1G2, SLC30A3, CSF2, CRH, CNR1, CLCN6, CALB2, CA11, CA7, CA3, C3, BDNF, BAX, ATP1A2, AKT1, IFNA1, IFNB1, IL6R, CXCL10, VWF, TRPV1, TRPC3, TGFB1, SPARC, SOX2, SLC8A3, RIT1, PTGS2, PTGER3, PRKCD, ACHE, PAK1, P2RY2, P2RY1, P2RX7, P2RX5, P2RX4, P2RX3, P2RX1, NFYC, COX2, MRC1, MEFV, MECP2, LAMC2, KCNQ2, MTCO2P12
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Atonic-Astatic Syndrome Of Foerster
Omim
Manifestations are oligophrenia, pronounced muscular hypotonia, static ataxia, astasia, abasia, and slow, monotonous speech. Van Rossum (1959) described an affected brother and sister from consanguineous parents. Consanguinity has been described in 2 other reports. Neuro - Oligophrenia - Hypotonia - Ataxia - Abasia - Speech slow and monotonous Inheritance - Autosomal recessive ▲ Close
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Congenital Generalized Hypercontractile Muscle Stiffness Syndrome
Orphanet
A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.
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Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency
Orphanet
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
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Adult Acute Respiratory Distress Syndrome
Orphanet
A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.
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Idiopathic Dropped Head Syndrome
Orphanet
A rare acquired skeletal muscle disease characterized by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up, in the absence of a known cause. Histological studies reveal a non-inflammatory myopathic picture. The clinical course is relatively benign, although cervical myelopathy may develop.
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Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Orphanet
A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.
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Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Orphanet
A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.
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Brachydactyly-Preaxial Hallux Varus Syndrome
Orphanet
A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994.