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  • Oppositional Defiant Disorder Wikipedia
    External links [ edit ] ODD Resource Center – American Academy of Child and Adolescent Psychiatry Classification D ICD - 10 : F91.3 ICD - 9-CM : 313.81 v t e Emotional and behavioral disorders Emotional/behavioral ADHD Conduct disorder Oppositional defiant disorder Emotional/behavioral disorder (EBD) Separation anxiety Social functioning Selective mutism RAD DAD Tic disorders Tourette syndrome Speech disorders Stuttering Cluttering Stereotypic movement disorder Elimination disorders Enuresis Encopresis
    DRD4, S100B, OSR1, SLC6A4, SNAP25, MAOA, SLC6A3, DRD5, COMT, WASF2, SCLY, SMC2, TAL1, LXN, TPH2, LINC01194, TCN1, BDNF, SYT1, OXTR, MAOB, KRT7, INS, NR3C1, ENPEP, DRD2, LOC110806262
  • Panic Disorder Wikipedia
    In fact, for some patients panic disorder is only diagnosed after they seek treatment for their self-medication habit. [43] While alcohol initially helps ease panic disorder symptoms, medium- or long-term alcohol abuse can cause panic disorder to develop or worsen during alcohol intoxication , especially during alcohol withdrawal syndrome . [44] This effect is not unique to alcohol but can also occur with long-term use of drugs which have a similar mechanism of action to alcohol such as the benzodiazepines which are sometimes prescribed as tranquilizers to people with alcohol problems. [44] The reason chronic alcohol misuse worsens panic disorder is due to distortion of the brain chemistry and function. [45] [46] [47] Approximately 10% of patients will experience notable protracted withdrawal symptoms, which can include panic disorder, after discontinuation of benzodiazepines. ... "Impact of alcohol intoxication and withdrawal syndrome on social phobia and panic disorder in alcoholic inpatients" . ... PMID 17592911 . ^ Ashton H (1991). "Protracted withdrawal syndromes from benzodiazepines" . Journal of Substance Abuse Treatment . 8 (1–2): 19–28. doi : 10.1016/0740-5472(91)90023-4 . ... PMID 2886145 . ^ Onyett SR (April 1989). "The benzodiazepine withdrawal syndrome and its management" . The Journal of the Royal College of General Practitioners . 39 (321): 160–3.
    COMT, CCKBR, ADORA2A, ADRA2A, HTR1A, INS, ANO2, HTR2A, PKP1, PEPD, NPSR1, CALCOCO1, CCK, SGCZ, BDNF, PRDM11, SDK2, NPS, MAOA, SLC6A4, SLC6A2, TMEM132D, CRHR1, ARSI, ACE, TPH2, PTK7, ASIC1, GAD1, TPH1, LOC110806262, RGS2, CRHR2, HCRT, OPN1SW, ELK3, CRP, EPHB1, IL10, TSPO, GLRB, GRPR, CRH, CCKAR, IKBKE, KRT7, APOE, CYP2C19, HP, MIR22, TAL1, SLC3A1, TNF, NPY5R, GRP, GRM2, IL6, LEP, CBLIF, CREM, SCLY, GABRA6, HBHR, DRD4, DRD1, TSHZ1, TACR1, OGA, DEAF1, PER2, TCF3, WASF1, SGCE, AKR1C3, KHSRP, THAS, GPR65, TMEM98, TNFRSF1B, PSIP1, EFHC2, SIGLEC7, FOXP3, LINC02210-CRHR1, C20orf181, MIR579, MIR491, MIR488, MIR339, MIR148A, CCL4L1, DAOA-AS1, DAOA, MPEG1, DGKH, DYNLL2, SLC43A2, TMEM132E, PLA2G4E, DTNBP1, NPL, SNRNP70, LRRC8E, MANEA, GFRA4, CFAP46, GHRL, HECA, NBAS, GAL, SRD5A1, ASIC2, SNAPC2, DRD2, HCRTR2, HCRTR1, HCLS1, GPX1, GPM6A, GLO1, GDNF, GANC, GAD2, GABRB3, GABRA5, GABBR1, ELN, AKR1C1, HLA-DRB1, CYP2B6, CUX1, CLU, CHRNA4, CDS1, VPS51, BDKRB2, BDKRB1, AVPR1B, ANGPT2, ALAD, AGTR1, AGT, HLA-B, HTR2C, SLC6A3, NTRK3, SET, SCN7A, RGS7, PSG5, PSAP, MAP2K7, PON1, PGR, PDE4B, SERPINE1, OXTR, OPRK1, OGG1, NPPA, HTR3A, NPY, NOS2, NOS1, NGFR, NAGLU, MECP2, MBL2, LSAMP, LDHB, LDHA, IL2RB, IL2, IL1R1, NTRK2
  • Sleep Paralysis Wikipedia
    Narcolepsy attacks are more common when the individual is falling asleep; ISP and RISP attacks are more common upon awakening. [18] Differential diagnosis [ edit ] Similar conditions include: Exploding head syndrome (EHS) potentially frightening parasomnia, the hallucinations are usually briefer always loud or jarring and there is no paralysis during EHS. [21] Nightmare disorder (ND); also REM-based parasomnia [21] Sleep terrors (STs) potentially frightening parasomnia but are not REM based and there is a lack of awareness to surroundings, characteristic screams during STs. [21] Noctural panic attacks (NPAs) involves fear and acute distress but lacks paralysis and dream imagery [21] Posttraumatic stress disorder (PTSD) often includes scary imagery and anxiety but not limited to sleep-wake transitions [21] Prevention [ edit ] Several circumstances have been identified that are associated with an increased risk of sleep paralysis. ... External links [ edit ] Classification D ICD - 10 : G47.8 , G83.8 MeSH : D020188 DiseasesDB : 12182 SNOMED CT : 277180005 Sleep information and links from Stanford University Sleep Paralysis and Associated Hypnagogic and Hypnopompic Experiences from University of Waterloo v t e Sleep and sleep disorders Stages of sleep cycles Rapid eye movement (REM) Non-rapid eye movement Slow-wave Brain waves Alpha wave Beta wave Delta wave Gamma wave K-complex Mu rhythm PGO waves Sensorimotor rhythm Sleep spindle Theta wave Sleep disorders Dyssomnia Excessive daytime sleepiness Hypersomnia Insomnia Kleine–Levin syndrome Narcolepsy Night eating syndrome Nocturia Sleep apnea Catathrenia Central hypoventilation syndrome Obesity hypoventilation syndrome Obstructive sleep apnea Periodic breathing Sleep state misperception Circadian rhythm disorders Advanced sleep phase disorder Cyclic alternating pattern Delayed sleep phase disorder Irregular sleep–wake rhythm Jet lag Non-24-hour sleep–wake disorder Shift work sleep disorder Parasomnia Bruxism Nightmare disorder Night terror Periodic limb movement disorder Rapid eye movement sleep behavior disorder Sleepwalking Somniloquy Benign phenomena Dreams Exploding head syndrome Hypnic jerk Hypnagogia / Sleep onset Hypnopompic state Sleep paralysis Sleep inertia Somnolence Nocturnal clitoral tumescence Nocturnal penile tumescence Nocturnal emission Treatment Sleep diary Sleep hygiene Sleep induction Hypnosis Lullaby Somnology Polysomnography Other Sleep medicine Behavioral sleep medicine Sleep study Daily life Bed Bunk bed Daybed Four-poster bed Futon Hammock Mattress Sleeping bag Bed bug Bedding Bedroom Bedtime Bedtime story Bedtime toy Biphasic and polyphasic sleep Chronotype Dream diary Microsleep Mouth breathing Nap Nightwear Power nap Second wind Siesta Sleep and creativity Sleep and learning Sleep deprivation / Sleep debt Sleeping while on duty Sleepover Snoring
    HLA-DQB1, REM1, COMT, GNAO1, HCRT, HLA-DQA1, HLA-DQB2, HLA-DRB1, HTR2A, PER2, RBM45
  • Hereditary Nephrogenic Diabetes Insipidus Gene_reviews
    It has been shown to be a useful candidate biomarker for the differential diagnosis in polyuria-polydipsia syndromes [Timper et al 2015, Nigro et al 2018]. (2) An overnight urinary concentration test proposed as a method to identify heterozygous females with AVPR2 -NDI is unreliable.
    AQP2, AVPR2, PRKCA, AVP, COX8A, COX2, PDE4A, PLG, PTGS2, FGF23, MTCO2P12
  • Learning Disability Wikipedia
    However, caution should be made when suspecting the person with a learning disability may also have dementia, especially as people with Down's syndrome may have the neuroanatomical profile but not the associated clinical signs and symptoms. [50] Examination can be carried out of executive functioning as well as social and cognitive abilities but may need adaptation of standardized tests to take account of special needs. [51] [52] [53] [54] Types [ edit ] Learning disabilities can be categorized by either the type of information processing affected by the disability or by the specific difficulties caused by a processing deficit. ... Nonverbal learning disabilities: The syndrome and the model. New York: Guilford Press. ^ Shifrer, Dara; Callahan, Rebecca; Muller, Chandra (2013).
    MECP2, NF1, MAPT, GRIA1, PSEN1, ACHE, HTR1A, MICU1, HTR7, IL1B, IL1RN, SIGMAR1, PRKN, PDE1B, PNOC, POR, SLC17A7, SLC17A6, KL, SYP, VEGFA, CAMKMT, BCL2, TH, APP, APOD, TLR4, TRH, HMOX1, ELAVL4, FIBP, IQSEC2, HTC2, FRAXA, FRAXE, ARSD, PURA, LRFN2, FMR1, TWIST1, ZIC1, PICALM, TRRAP, ALDH5A1, YWHAE, NPAS3, CC2D2A, TBL1XR1, PANK2, FOXP2, CACNA1G, TRIP12, NLGN4X, CITED2, RETN, RABL6, DCDC2, NIPBL, IQCB1, SNAP91, PHB2, SCO2, CHP1, DCTN3, VCP, PTEN, TSC2, GPM6A, DYNC1H1, DMD, DLG4, DGCR, DBH, CTNND2, COL1A1, AP2S1, CDH8, CASR, CALM3, CALM2, CALM1, ALX3, ADRA2C, DPP6, GRIK4, TSC1, GYPA, TCF12, TBX1, SLC16A2, SLC6A4, SLC2A1, RANGAP1, PTH, ADRA2A, MAPK3, PPL, NSF, NHS, MEIS2, INSR, HADHB, FSIP1
  • Hypertrophic Cardiomyopathy Wikipedia
    Another, non-obstructive variant of HCM is apical hypertrophic cardiomyopathy, [29] also called Yamaguchi Syndrome or Yamaguchi Hypertrophy, first described in individuals of Japanese descent.
    MYBPC3, TPM1, MYH7, TNNI3, TNNT2, MYL2, MYH6, LAMP2, SLC25A4, MYLK2, JPH2, CAV3, PEPD, PKD1, NPPA, PTPN11, EDN1, ICAM1, HTR2B, CD36, ADM, CASP3, CAPN2, NMNAT2, CAV1, BCL2, MTPN, XIRP1, ACTC1, PRKAG2, FLNC, PLN, MYL3, CEP85L, TRNG, TCAP, RAF1, TRNI, RPL36A-HNRNPH2, DES, FHL1, LMNA, KCNH2, GLA, PRH1, PRH2, ACTB, MYL12B, MYL12A, HLA-C, MYL9, ACE, AGT, ACTA2, FXN, PRKAA2, CALM3, MIR146A, MIR134, ACTN2, MYH2, APRT, MEOX1, ATP2A2, CALM1, EMC3, MAML3, MYOZ2, CALM2, IMMT, PRKAB1, ITGA9, GDNF, CALU, TTN, CAPN1, MYBPC2, TNNC1, CCL20, SATB1, DNAH8, PRKAA1, MFAP1
    • Familial Hypertrophic Cardiomyopathy Gard
      Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood. Signs and symptoms can vary. While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting. Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias , heart failure , and an increased risk of sudden death.
  • Anxiety Wikipedia
    Uro-genital, as frequent urination , urinary urgency , dyspareunia , or impotence , chronic pelvic pain syndrome . Stress hormones released in an anxious state have an impact on bowel function and can manifest physical symptoms that may contribute to or exacerbate IBS .
    MDGA2, GPC6, NKAIN2, SLC6A4, BDNF, COMT, APOE, DRD4, CRP, MAOA, DRD2, LXN, TCN1, HTR1A, IL6, LOC110806262, SLC6A3, OPRM1, TAL1, OXTR, TFPI, KRT7, TPH2, PSS, NF2, SCLY, CHRNA5, NR3C2, LMO4, RXRG, SELENBP1, MTA2, MAGI1, RPS29, SRPX, SNAP25, H2BC9, SHBG, SNCA, CCDC6, XBP1, TNF, THAS, CHST3, SPG7, MFHAS1, MTCL1, WSCD2, DTNBP1, ARF2P, CXADRP1, MDD1, TMPRSS9, LCE3C, MCIDAS, ARSI, XKR6, KANSL1, LRRC57, ANKK1, PRAG1, LINC02210, L3MBTL2, NR1I3, MCPH1, PCDH15, CDH23, ASH1L, IMPAD1, CCHCR1, CNTNAP2, SOSTDC1, SPDEF, PTPN12, KLHL2, TACC2, TRIM13, RET, ABO, PTCH1, CLU, FKBP5, F9, DYRK1A, DRD3, DRD1, DNAH8, ACE, DBH, CYP2A6, CXADR, CSTB, CRHR1, CNR1, CHRNA7, TAS2R38, CHRNA3, CDK6, CDH13, CD38, CASR, CAD, BLK, AZU1, AVPR1A, ATP7A, ASCL1, ARR3, AR, GABRA6, GAD2, GRIN2B, GRM7, PRL, PRKAR1A, PRB1, PNN, PENK, ADSL, P2RX7, OXT, NPY, NOS1, MTHFR, MSRA, MPO, MMP9, LTA, L1CAM, ITK, ITGAM, IL13, IL10, IL5, IL4, IL2, IFNG, HSD11B1, NRG1, GYPA, PDE4D
  • Neurodegeneration Wikipedia
    The vulnerability of post-mitotic neurons to DNA damage (such as oxidative lesions or certain types of DNA strand breaks), coupled with a gradual decline in the activities of repair mechanisms , could lead to accumulation of DNA damage with age and contribute to brain aging and neurodegeneration. [52] DNA single-strand breaks are common and are associated with the neurodegenerative disease ataxia- oculomotor apraxia . [53] [51] Increased oxidative DNA damage in the brain is associated with Alzheimer’s disease and Parkinson’s disease . [53] Defective DNA repair has been linked to neurodegenerative disorders such as Alzheimer’s disease , amyotrophic lateral sclerosis , ataxia telangiectasia , Cockayne syndrome , Parkinson’s disease and xeroderma pigmentosum . [53] [52] Axonal transport [ edit ] Main article: Axonal transport Axonal swelling, and axonal spheroids have been observed in many different neurodegenerative diseases. ... Classification D ICD - 10 : G30 - G32 MeSH : D019636 v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis v t e Neuroscience Outline of neuroscience History of neuroscience Basic science Behavioral epigenetics Behavioral genetics Cellular neuroscience Computational neuroscience Connectomics Imaging genetics Integrative neuroscience Molecular neuroscience Neural engineering Neuroanatomy Neurochemistry Neuroendocrinology Neurogenetics Neuroinformatics Neurometrics Neuromorphology Neurophysics Neurophysiology Systems neuroscience Clinical neuroscience Behavioral neurology Clinical neurophysiology Neurocardiology Neuroepidemiology Neurogastroenterology Neuroimmunology Neurointensive care Neurology Neurooncology Neuro-ophthalmology Neuropathology Neuropharmacology Neuroprosthetics Neuropsychiatry Neuroradiology Neurorehabilitation Neurosurgery Neurotology Neurovirology Nutritional neuroscience Psychiatry Cognitive neuroscience Affective neuroscience Behavioral neuroscience Chronobiology Molecular cellular cognition Motor control Neurolinguistics Neuropsychology Sensory neuroscience Social cognitive neuroscience Interdisciplinary fields Consumer neuroscience Cultural neuroscience Educational neuroscience Evolutionary neuroscience Neuroanthropology Neurobioengineering Neurobiotics Neurocriminology Neuroeconomics Neuroepistemology Neuroesthetics Neuroethics Neuroethology Neurohistory Neurolaw Neuromarketing Neuromorphics Neurophenomenology Neurophilosophy Neuropolitics Neurorobotics Neurotheology Paleoneurobiology Social neuroscience Concepts Brain–computer interface Neural development Neural network (artificial) Neural network (biological) Detection theory Intraoperative neurophysiological monitoring Neurochip Neurodegeneration Neurodevelopmental disorder Neurodiversity Neurogenesis Neuroimaging Neuroimmune system Neuromanagement Neuromodulation Neuroplasticity Neurotechnology Neurotoxin Book Category
    NGF, SNCA, APP, EPO, SIRT1, ATXN1, MAPT, HMOX1, PSEN1, PANK2, GDNF, HCRT, IL6, CRYAB, GSTO1, IDO1, TBCD, TTC19, SERPINA1, SOD2, GSTM1, GSTM2, SELENOP, APOD, VIM, KYNU, FTH1, PDE8B, AGPAT3, GSR, NGFR, GPX3, SPTAN1, PKD2, MGST1, GSTM4, GSTM5, SEPTIN5, LRRK2, INA, CAT, FTL, AIMP1, CLEC16A, APLP2, GOT2, ATG7, NQO1, TNF, PRNP, OPA1, RMDN2, CLN3, SACS, MTOR, NPC1, FXN, ATXN7, TREM2, NFE2L2, NEFL, P2RX7, TGM2, ATXN2, FMR1, PPARGC1A, RMDN1, SNCG, TPP1, SETX, TSPO, SNCB, CDK5, PIK3CG, PIK3CD, SMN2, SMN1, SIRT2, PPARG, SNRPN, PIK3CB, C9orf72, PIK3CA, NLRP3, PTPA, PPT1, PRKN, CLU, SOD1, FUS, CSF2, AR, STMN1, APOE, LAMC2, SIGMAR1, GRN, PLA2G6, TTR, DNM1L, IL1B, ABCD1, CDK5R1, HDAC6, SQSTM1, IGFALS, SNURF, MFN2, PARP1, PINK1, IGF1, HTT, HFE, ACTB, HSP90AA1, ACHE, HSPA4, LCN2, OPTN, TARDBP, SYBU, GABPA, BDNF, MAOB, GCG, UCHL1, BCHE, RMDN3, ATXN3, GFAP, VEGFA, VCP, ATM, GRIN2B, EIF2B2, TLR4, GAPDH, GBA, KHDRBS1, GTF2H1, EIF2S2, ANG, CP, EIF2B4, REN, DCTN4, NUP62, EIF2B1, PIN1, TPPP, GSK3B, HSF1, ITM2B, HRES1, S100B, TP53, BACE1, CTSD, MAOA, TMED9, TMEM106B, CASP6, TFEB, CASP3, PTBP1, NGB, MAPK8, MAPK1, DAPK2, MAK16, RBMS3, PNO1, SRRM2, GLP1R, CTNNB1, MGLL, SIRT3, DENR, CNR2, KEAP1, SLC6A4, UTRN, CNTF, CRMP1, OGA, PNPLA6, EPM2A, SLC1A2, LEP, SLC6A3, PREP, AKT1, CLN5, DYRK1A, ITPR1, STH, LY6E, ARSA, HTRA2, DNAJC5, MPO, P4HB, GALC, TRPM2, CHCHD10, AGER, NCL, PTGS2, CHMP2B, ADIPOQ, HDAC9, SGSH, ABHD12, CNR1, TXN, SPP1, WFS1, NRGN, STAT3, TRPV1, EIF2AK3, CX3CL1, TDP1, ATP13A2, VDR, EPHB2, UBB, KL, MS, TAC1, APTX, TTPA, HSP90B2P, DNMT1, PRKCG, DCTN1, SUCLA2, PQBP1, SORT1, MAPK10, VPS13A, CHI3L1, SMUG1, HSPB8, CASP8, ADAM10, KLK6, TRPM7, HMGB1, CST3, REST, STUB1, MIR29A, MIR132, GCHFR, CLN6, HSPD1, TXNIP, ANXA1, SV2A, IL10, UPK3B, IL12A, IREB2, CAMK4, ELP1, SUGP1, BCL2, HAMP, YWHAZ, DNAJB1, MBP, NR1H2, MNAT1, UCP2, CSF1R, AFG3L2, PARK7, MCIDAS, SURF1, UBQLN2, ABCB1, CDCA5, ACE, SST, DKK1, KIF1B, PLA2G1B, TLR2, PLP1, DISC1, SARM1, ATN1, PPARA, EWSR1, DPP4, ATL1, CSTB, CREBBP, FCN2, NPY, HNRNPA1, PTEN, HOXD13, PRKAB1, RHO, REG1A, RIPK1, PRKAA2, IL1A, HDAC3, SI, HSPA1A, HNRNPA2B1, APLN, HSPB1, SYNJ1, TECPR2, IAPP, PSMD2, PTN, SOCS3, MARK4, LGMN, KMO, MAPK3, EPG5, IFNG, PTPN1, EIF2AK2, CCL2, MGAM, NAGLU, TAF15, PRKAA1, HSPA14, CHCHD2, WDR45, COX2, TAT, TYROBP, MTHFR, TYR, GEMIN4, TBP, NOS3, TDO2, TGFB1, S100A1, PDE10A, MSI1, TBK1, POLG, SPTBN2, MCOLN1, KCNC3, CFDP1, MANF, MAP3K12, SPAST, TMEM97, PDYN, VIP, SGSM3, MEFV, MFGE8, PFN1, AHSA1, CD200, PICK1, ALDH2, KIF1A, GLB1, CBLL2, CRH, TAAR1, MUL1, CRP, ATP7A, GPER1, CDNF, ACO2, SESN2, ATF4, PDIA3, GRM5, GRIA2, MIR34A, CBS, HNRNPA1P10, EIF4G2, CX3CR1, CYBB, NR3C1, FOLR2, ALOX5, ADCYAP1, DECR1, ABCA1, AQP4, HDAC2, DYNC1H1, LYST, APEX1, CACNA1A, CASP1, NIPA1, TTBK1, HIF1A, NRG1, DPYSL2, ASPA, DNAJB1P1, FOLR1, HEXA, CYP46A1, MRGPRX3, PLCG2, PLG, PLA2G4A, MRGPRX4, GSTO2, YME1L1, CALB1, TMSB4X, C5, C5AR1, BSCL2, MIR137, DRD2, PON1, TNFRSF1B, TPO, A2M, MIR183, EGFR, CXCR4, GPNMB, SLC11A2, PTK2B, NRTN, NTRK2, WNT1, SLC25A46, SEPSECS, ASAH1, F2R, MTDH, NPC2, GPR166P, VN1R17P, VDAC1, UBQLN1, ERBB2, PDC, PYCARD, PDE4A, DNAH8, PDE7A, SUMO1, CLN8, TYMS, BRAF, PHPT1, POLDIP2, CANT1, RRAS, OXER1, ATXN8OS, EXOSC8, CRK, STIM1, MAPK14, PNKP, CCL11, ZFYVE26, ROS1, PLB1, LPAR3, TACR1, RGS10, HEXD, SGCG, MIR107, SOX3, PCSK9, KDM1A, SNAP25, CETP, GPRC6A, BRAT1, SLC18A2, SGK1, SLC6A2, ACSBG1, SLC2A1, MLKL, CDC42, SPTBN1, PDIK1L, PADI4, RBM3, DBN1, RELN, CASP2, DBH, CD200R1, MAP2K7, LINGO1, TIMM8A, CUX1, CAST, FAM168B, PRKCD, DHCR24, DIO2, DLG4, DAPK1, STIP1, DAG1, CASP9, CYP27A1, PARS2, TMED10, CYP19A1, CLIC4, GPR151, RNF19A, PTPN11, PRDX5, TERT, RIPK3, RAC1, MOK, BDNF-AS, P2RY2, MRGPRX1, MSC, IL4, VPS35, SPG11, IL3, GLE1, MID1, GJA1, MBTPS1, PEA15, BECN1, IL2, ABCD2, MMP9, MMP14, GIP, MOG, SNCAIP, MAD2L1BP, LRPPRC, MTPAP, GH1, IGF2, DNAJB6, MDK, ALS2, NDRG2, HAP1, ADM, ACP3, INSR, RARS2, MTCO2P12, GRIN1, AIFM1, RPSA, SLC52A2, LDLR, GLUL, AGTR1, TUBB4A, CISD1, LPL, LRP1, SLC33A1, VAPB, NARS2, ALB, MAS1, HSD17B10, CCR2, NDUFA1, ABCG2, RNR2, GRAP2, CFH, HGF, SPOAN, PRUNE1, APC, NEDD4, NEFH, HSPA9, HSPA5, ANPEP, ANP32A, HK1, HSPA1B, DNAJB2, ABCA7, AAVS1, SLC25A27, LGR6, AIMP2, HMBS, FZD4, JPH3, BAG3, SNX27, ABL1, BLZF1, ATP6, SLC25A38, OXR1, POLR3A, TMEM189, CIT, LZTS3, RAB21, NDUFS7, CLOCK, UNC13A, PTGES, KIF20B, HES3, TMEM189-UBE2V1, CDC37, SCRN1, TMED10P1, RUFY3, NLRP1, ADAP1, H3P13, DNAJC6, KIF21B, SIRT1-AS, P2RX2, TMEM59, GEN1, DDX19B, NANOS3, PGP, PADI2, GOSR1, RGS6, SLC2A6, C14orf177, NEAT1, NPAS4, MMRN1, STXBP5L, ZNF763, TMEM119, PWAR4, ISG15, IMMT, PDAP1, H3P14, TUSC2, HDAC4, SBNO2, COPD, PSIP1, H3P7, RACK1, SETDB1, CXCL13, RAMP2, COQ7, GDF11, SCGN, ATP6AP2, CEBPZ, NAMPT, TMEM41B, SCA26, SH2B2, SFTPA1, MIR30B, MIR25, CXCR6, MIR21, MIR200A, MIR184, LOC643387, DNAJA2, FIG4, HSPA12A, CLN9, MIR504, CISD2, TUBA1B, CACNG2, KLF2, CLEC10A, NXF1, TFG, KAT5, NOP56, SULT1A4, XRCC6P5, BATF, AKR1A1, SPTLC1, RTN3, PARK12, CTCF, MIR603, MIR155, SLC12A6, SLX1A-SULT1A3, PAPOLA, ARMCX5-GPRASP2, P2RX5-TAX1BP3, TCERG1, NR1H4, ERP29, MVP, SCGB1D4, RBM8A, GDNF-AS1, PGR-AS1, ATXN2-AS, CRYAA2, CLP1, COPS5, LINC01672, RAB10, MRPS30, CYSLTR1, FARS2, MIR146A, MIR144, PPIF, PTGES3, C20orf181, ARPP19, PTPRU, AAA1, CCL27, HPSE, PGRMC1, HBD, ABCB6, AOS, KCNE3, NUP153, NECAB1, MFSD8, SYT14, SYVN1, CCDC115, MINDY4, PPP1R1B, RNF146, ADPRS, OCIAD1, TXNDC5, TESC, GDPD5, DARS2, BHLHB9, SBNO1, ZNF436, ROCK2, NAT10, UBA6, SPTLC3, YOD1, FOXRED1, AMBRA1, PPP4R3A, OPA3, NAXD, IFT122, DNAJC10, TERF2IP, ABLIM2, ADO, NAGPA, RPPH1, CRBN, ABI3, VRK3, BFAR, DNAJC14, NRN1, DCDC2, IL23A, TDP2, ATP6V1H, GDAP1, CIAO2B, RASD1, TPPP3, ORAI1, PARP10, ATP8A2, PTPN5, PANK1, DUOX1, TLR9, TREM1, ASRGL1, ZNF415, SLC8B1, REEP1, ZNF512B, LYNX1, NLN, KIDINS220, TAOK1, SEMA6A, CFAP97, FUNDC2, WNK1, STIM2, DPP10, BCL11B, BIRC6, PORCN, SPG16, MTHFSD, SMURF2, LSM2, PDIA2, SENP2, GORASP1, INF2, SIL1, PROK2, MYORG, SCYL1, L2HGDH, SPHK2, PAG1, CCDC51, SELENOS, HDAC8, ZNF253, PRMT8, SLC2A9, TMPRSS4, TWNK, EFHD2, RETN, FA2H, COLEC11, ACKR3, PCBP4, SLC17A6, RPGRIP1, TIGAR, GGCT, THAP11, GJD2, AICDA, METRN, ABHD6, CHRFAM7A, SDF4, MCU, PLXNB2, CABIN1, SEC14L2, GAREM2, MANEAL, ZNF569, TTBK2, PWAR1, CD2AP, PIWIL4, PRND, HSPBP1, GABARAPL1, MACF1, FBXO7, QPCT, SEMA4A, POLR1A, PPARGC1B, ATL3, SH2B1, ACOT11, ATRNL1, CHD5, OCIAD2, SLC39A14, QPRT, APPL1, MGRN1, FNDC5, NMNAT2, OARD1, FOLH1B, MAST2, RTL3, UBR1, PAOX, RLS1, WWC1, AGTPBP1, ARX, SLC44A1, IDO2, SPATA5, DNAJC13, ZNF629, TOR1AIP2, KCTD7, SIRT5, SLC2A12, NCS1, KCNH4, GPBAR1, GIGYF2, KCNH8, LRSAM1, PADI1, SLC52A3, SLC46A1, PRRT2, PCLO, OPN4, REM1, OSTM1, FLVCR1, FTMT, HIPK2, TMEM230, TBCK, CYGB, PILRB, DNER, NOP53, ERVW-1, DUOX2, MTG1, ASAP1, HDGFL3, GMNN, PLXNA4, ADIPOR1, CYP2U1, GPRASP2, AHSA2P, BBC3, PTPN22, FBXL5, HIBCH, BHLHE23, FGF20, GNL3, SLC17A5, RNF11, FETUB, SIGLEC7, B3GAT1, DKK3, UHRF2, EXOSC6, AGO2, IP6K3, COQ2, TNFRSF21, PDLIM3, APEX2, HPGDS, RAB39B, NXNL1, RABGEF1, ATXN10, SORL1, SH3BP5, GRM4, GLRX, GM2A, GMFB, CXCR3, GPR17, GPR18, MCHR1, GPR26, GPR42, GRK5, GRIK3, GRIN2D, GRM2, GRM3, GSN, HSPA6, GSS, GSTP1, GUSB, HBB, HCLS1, HDAC1, HEXB, UBE2K, HK2, HLA-C, HLA-G, HMGA1, NR4A1, HPX, GLO1, GIPR, CBLIF, GHRH, EPRS1, EREG, ERN1, ESR2, EZH2, F2RL1, F3, F5, F9, FAAH, FABP3, BPTF, FDPS, FGF1, FGF9, FOXO1, FOXO3, FLNB, FOLH1, FOS, FOSB, FPR2, FRAXE, G6PD, GAD1, GAP43, GBAP1, KAT2A, GFER, AGFG1, HSPB2, ENO2, MECP2, KCNN1, KIT, LGALS1, LGALS3, LIFR, LIPC, LMNB1, LMX1B, LOX, LPA, NBR1, MARK1, MCL1, MDM2, MAP3K5, HSP90AB1, KITLG, MGST3, MIF, MLF1, MAP3K11, KMT2A, MMP1, MMP2, MPP1, MPST, MPZ, MRC1, MSH2, MSN, KCNMA1, KCND3, KCNB1, JUND, HTR2A, HTR2C, ICAM1, IRF8, IDE, IDH2, IFIT3, RBPJ, IKBKB, IL1RN, IL2RA, IL2RB, IL7R, CXCL8, IL13, IL13RA1, IL15, IL17A, IL18, INPPL1, IRF4, ISG20, ITGAM, ITGB2, ITIH4, ITPR2, ITPR3, JUN, JUNB, EPHA1, ENG, MST1, C9, ATR, AVP, BAX, BCL2L1, BCL6, BCYRN1, BGN, BLMH, BLVRA, BNIP3, BRCA2, BRS3, BTK, CAPN5, CAD, SEPTIN7, CAPN2, CASP7, CASR, CAV1, CAV2, CD14, CD33, SCARB2, CD38, CD40, CD40LG, CD63, CD68, CDK1, ATP5MC1, ATHS, ARNTL, RHOA, SERPINA3, ACADM, ACOX1, ACP1, ACYP2, ADCYAP1R1, ADORA1, ADORA2A, ADRA1A, ADRA2B, ADRB2, AHR, AHSG, AIF1, AK4, AKT2, ALOX12, ALOX15, ALPP, AMD1, AMD1P2, AMPD2, ANK1, APAF1, APBB1, APLP1, APOA1, KLK3, AQP1, CDK11B, CDC27, MARK2, DMPK, CTBP2, CCN2, CTSB, CTSK, CTSZ, CYP2B6, CYP2D7, CYP2D6, DARS1, DBI, DDX3X, DES, COCH, DLST, DOCK2, CDH1, SLC26A3, DRD1, DUSP2, DUSP6, E2F1, EDN1, EDNRA, EEF1A1, EGF, EIF4E, EIF4G1, ELANE, ELAVL2, ELK1, CST6, SLC25A10, VCAN, CSNK1D, CDH15, CDK2, CDK6, CDK9, CDKN2A, CDKN2D, CEBPD, CETN1, CFL2, CHAT, CHD2, CHGA, CHIT1, CHRM1, CHRNA4, CHRNA7, CISH, CLK1, CCR5, COL11A2, COL17A1, COMT, COX8A, CPN1, CPOX, ATF2, CRHR1, CRYAA, CRYZ, MSRA, MT3, AIM2, TNFRSF1A, TF, TFAM, TFCP2, TFRC, THBS1, THOP1, THY1, TIA1, TIMP1, TIMP2, TIMP3, TKT, TLR1, TLR3, TNR, VEGFB, TPP2, TPR, TPT1, TRAF6, TRPC3, TRPC5, TSC1, TSC2, TUBA4A, UBC, UBE2V1, UBE3A, UCHL3, UNG, TMBIM6, TEAD1, PRDX2, TCF3, SLC9A5, SLC18A1, SLC18A3, SLC20A2, SLPI, SON, NAT2, SOS1, SP100, SPARC, SPG7, SPR, SRF, TRIM21, SSTR4, STAT1, STC1, ELOVL4, STX5, SULT1A3, SUPT4H1, SUPT5H, SYK, SYN1, SYT1, TAF1, TAF2, TAP1, CNTN2, VARS1, VGF, SKIL, USP14, RAB11A, ASAP2, NR1I2, SPHK1, SGPL1, MTMR2, ENDOU, CACNA1G, BSN, MBD2, HSPB3, KALRN, F2RL3, SPAG9, P2RX6, VRK2, SYNGR3, LPAR2, XPR1, NOG, TSPOAP1, PIWIL1, GPR55, KLF4, SLIT2, PPIG, PPT2, COX5A, SELENOF, CYP7B1, PABPC4, RNMT, EIF3A, USO1, VSNL1, WNT2, XBP1, XK, XPNPEP1, YY1, SLC30A3, RAB7A, BAG6, SLC39A7, TFPI2, ARHGEF5, NCOA4, AAAS, CLLS2, GAN, GDF5, TAM, USP9X, EPX, TRRAP, PICALM, BAP1, NR0B2, SUPT3H, OGT, KHSRP, AKR7A2, PRKRA, SLC5A2, SHH, NUDT1, PDE2A, P2RX3, P2RX4, P2RX5, P2RY1, PAEP, PRDX1, PAK1, PAK3, REG3A, PAWR, PAX6, PCBP1, PCBP2, PCSK1, PDE4D, PML, PDE9A, PDK1, SERPINF1, PEX6, PFDN5, SLC25A3, PHEX, PHF1, SERPINI1, PITX2, PLA2G2A, PLA2G5, PLAT, PLS3, P2RX1, OXT, OPRD1, OGG1, MTM1, ND3, ND5, MUTYH, MYOC, PPP1R12A, NACA, NAP1L2, NDN, NDUFAB1, NDUFS8, NEK1, NF2, NFKB1, NNAT, NME3, NQO2, NOS1, NOTCH1, NOTCH3, NOVA1, PNP, NPPA, NPY2R, NTF3, NTRK1, NTS, NR4A2, OGDH, PLXNA2, PMP22, SH3GL3, RPE, RAN, RAP1A, RARB, RARS1, RASA1, RASGRF1, RBBP6, OPN1LW, RELA, RENBP, RNASE4, BRD2, RORC, RPGR, RPS4X, PRRX1, RPS6KB1, RPS25, RPS27A, RREB1, RRM2, RXRA, S100A6, S100A9, S100A10, SCN8A, SCP2, SCT, SRSF7, ITSN1, RAB1A, QARS1, PTPRA, PTPN13, SEPTIN4, POLD1, POU3F2, POU3F4, PPARD, PPIA, PPID, PPP1CB, PPP2CA, PPP2R2B, PPP5C, PRKAR1B, PRKCA, PRKCB, PRKD1, MAPK9, MAP2K5, PRL, PROC, HTRA1, PSD, PSEN2, PSG5, PSMC1, PSMD1, PSMD8, PSMD12, PTK2, PTPN6, H3P17
  • Septic Arthritis Wikipedia
    External links [ edit ] Classification D ICD - 10 : M00 - M03 ICD - 9-CM : 711.0 MeSH : D001170 DiseasesDB : 29523 External resources MedlinePlus : 000430 eMedicine : med/3394 [1] Patient UK : Septic arthritis v t e Diseases of joints General Arthritis Monoarthritis Oligoarthritis Polyarthritis Symptoms Joint pain Joint stiffness Inflammatory Infectious Septic arthritis Tuberculosis arthritis Crystal Chondrocalcinosis CPPD (Psudogout) Gout Seronegative Reactive arthritis Psoriatic arthritis Ankylosing spondylitis Other Juvenile idiopathic arthritis Rheumatoid arthritis Felty's syndrome Palindromic rheumatism Adult-onset Still's disease Noninflammatory Hemarthrosis Osteoarthritis Heberden's node Bouchard's nodes Osteophyte
    TNF, IFNG, BTK, MTHFD1, CRP, PSTPIP1, ACLY, IL6, TNFRSF1A, ACCS, TREM1, SUMF2, PLA2G15, MARCHF6, CLEC3A, IL33, MIR146A, TNFRSF1B, ACSS2, PAPPA, ROM1, PPP3CA, ACAN, MMP2, MEFV, MAS1, ITGA2, CXCL10, IL17A, CXCR2, IL2, IL1B, GLI3, MIR155
  • Beta-Thalassemia Gene_reviews
    The clinical severity of the β-thalassemia syndromes depends on the extent of alpha globin chain / non-alpha globin chain (i.e., β+ γ) imbalance. ... For individuals with thalassemia major, follow up to monitor the effectiveness of transfusion therapy and chelation therapy and their side effects includes the following: Monthly physical examination by a physician familiar with the affected individual and the disease Every three months: assessment of liver function tests (serum concentration of ALT), determination of serum ferritin concentration, and assessment of growth and development (during childhood) Annual Ophthalmologic and audiologic examinations Complete cardiac evaluation, and evaluation of thyroid, endocrine pancreas, parathyroid, adrenal, and pituitary function Liver ultrasound evaluation and determination of serum alpha-fetoprotein concentration in adults with hepatitis C and iron overload for early detection of hepatocarcinoma Bone densitometry to assess for osteoporosis in the adult Liver and myocardial MRI Regular gallbladder echography for early detection of cholelithiasis [Origa et al 2009], particularly in individuals with the Gilbert syndrome genotype (i.e., presence of the (TA) 7 /(TA) 7 motif in the UGT1A promoter) In patients on deferasirox: monitoring of serum creatinine, creatinine clearance, and/or plasma cystatin C levels prior to therapy, weekly in the first month after initiation or modification of therapy, and monthly thereafter. ... However, controlled and randomized studies are warranted to establish the role of hydroxyurea in the management of thalassemia syndromes. Modulators of erythropoiesis, such as TGF-β-like molecules or inhibitors of JAK2, could soon revolutionize the treatment of β-thalassemia and related disorders.
    HBB, HBA2, HAMP, TFRC, EPO, LCN2, TFR2, HBB-LCR, CACNA1H, CAD, UMPS, DHODH, KLF1, HBG2, HBG1, PMCH, HBA1, AHSP, BCL11A, HBFQTL2, HBD, G6PD, HFE, ITGA2B, SEA, MYB, RN7SL263P, CD34, UGT1A1, UGT1A6, ENTPD1, UGT1A8, UGT1A4, UGT1A10, SCD, SOX6, UGT1A7, KIDINS220, PON1, CAT, PSMB6, CSF3, GSTK1, GPT, GSTM1, HBD, CHIT1, IFNL3, APOE, MIR210, DLL1, YY1, SLCO6A1, SELP, SPRR2A, HBS1L, HPGDS, GDF15, UBL4A, H6PD, KL, AP5Z1, UGT1A, SEC23B, GRAP2, XPO1, NOG, VDR, VEGFA, HACD1, TRPV1, TNFRSF11A, CAP1, TNFSF11, THOC5, LOH19CR1, AIMP2, RNGTT, CRYL1, SORBS1, H19, SFMBT2, BRIP1, ATOH8, SCLT1, ERFE, SAMD14, OR13J1, AICDA, MIR155, MIR15A, MIR182, MIR326, OPN1MW2, OPN1MW3, ZNF471, CD177, AHSA1, POLDIP2, ZHX2, PALLD, CUL9, BRD4, PRDX5, RNF19A, SACS, UGGT1, SOST, SLC35A2, UGT1A5, UGT1A9, UGT1A3, LARP1B, UGDH, AFP, TPH1, CTAA1, CYP3A4, DNASE1, DPP4, ELANE, F2, F5, FBN2, FCAR, FN1, FXN, FUT1, FUT4, GATA1, OPN1MW, GLUD1, GSN, GSTA1, CYP2E1, MAPK14, HBE1, CRP, ANK2, ANXA5, APEX1, ABCC6, ATRX, B2M, BACH1, CA2, SLC25A20, CD19, CD37, CD38, COL1A1, COX8A, CPB2, CREB1, CRK, GSTM2, HBZ, TNF, MAPK1, PTH, RANGAP1, OPN1LW, RPS19, CCL18, SHBG, ALB, SLCO2A1, SPN, SPTA1, SPTBN1, STK3, TBP, PRDX2, TERT, TGFB1, KLF10, PSMA5, PRKCSH, HLA-DPB1, SERPINB6, HLA-DQB1, HLA-G, HMGB1, HPT, IFNA1, IFNA13, IGF1, IGF2, KIR3DL1, LEP, LNPEP, MAS1, NTF6B, TNFRSF11B, PRDX1, PGD, PGF, SLC4A1
    • Beta-Thalassemia Omim
      A number sign (#) is used with this entry because beta-thalassemia can be caused by homozygous or compound heterozygous mutation in the beta-globin gene (HBB; 141900) on chromosome 11p15. Beta-thalassemia may also be due to deletion of the entire beta-globin gene cluster or of sequences 5-prime from the beta-globin gene cluster; these sequences are referred to as the locus control region beta (LCRB; 152424). Description Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975). Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia.
    • Beta Thalassemia Medlineplus
      Beta thalassemia is a blood disorder that reduces the production of hemoglobin . Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Affected individuals also have a shortage of red blood cells (anemia ), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots.
    • Beta-Thalassemia Orphanet
      Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). Epidemiology Exact prevalence is unknown but annual incidence at birth of symptomatic BT is estimated at 1/100,000 worldwide. The disease was initially described in the Mediterranean basin but severe forms of BT frequently occur throughout the Middle East, South East Asia, India and China. Population migrations have lead to global distribution of the disease. Clinical description Three main types of BT have been described (minor, intermedia and major; see these terms). 1) Thalassemia minor (BT-minor, BT trait) is the heterozygous form and is usually asymptomatic. 2) Thalassemia major (Cooley anemia; BT-major) is the homozygous form and associates splenomegaly and microcytic and hypochromic anemia resulting from dyserythropoiesis and hemolysis.
    • Beta-Thalassemia, Dominant Inclusion Body Type Omim
      A number sign (#) is used with this entry because of evidence that dominantly inherited inclusion body beta-thalassemia is caused by mutation in the beta-globin gene (HBB; 141900). Clinical Features Weatherall et al. (1973) observed what appeared to be a hitherto unreported type of congenital anemia in 6 members of an Irish family. Inherited as an autosomal dominant, it was characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells (which were, however, well hemoglobinized), erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy. There was an imbalance in globin chain synthesis with an excess of alpha-chain over beta-chain by a factor of 2 to 1. The authors postulated either an 'overproduction abnormality' of alpha-globin chain synthesis or a defect in cell division leading to an excess of genetic material per cell.
    • Beta-Thalassemia Gard
      Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin . Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. People with beta-thalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications. There are two main forms of beta-thalassemia, classified based on the severity of symptoms: Thalassemia major (also called Cooley's anemia) - the more severe form, causing severe anemia and enlarged liver and spleen (hepatosplenomegaly). This form usually becomes apparent before 2 years of age. If not treated, it causes failure to thrive and a shortened life expectancy.
  • Autosomal Dominant Tubulointerstitial Kidney Disease – Ren Gene_reviews
    Hyperkalemia & acidemia are not as pronounced. COL4A3 COL4A4 COL4A5 Alport syndrome (& other types of hereditary glomerulonephritis) XL AR AD Microscopic hematuria (microhematuria), proteinuria, progression to ESRD Frequent cochlear & ocular manifestations Hematuria is present.
  • Human Immunodeficiency Virus Type 1, Susceptibility To Omim
    PQBP1 bound to reverse-transcribed HIV-1 DNA and interacted with cGAS (MB21D1; 613973) to initiate an IRF3-dependent innate immune response. MDDCs from Renpenning syndrome (309500) patients, who harbor PQBP1 mutations, possessed a severely attenuated innate immune response to HIV-1 challenge, supporting the role of PQBP1 as a proximal innate sensor of HIV-1 infection.
    AIF1, ZNRD1ASP, LRMDA, C4orf17, FBN3, MCM8, IGSF21, MOB1B, SMIM12, SLC26A7, MUCL3, TRPM6, CCBE1, TMC4, PSORS1C1, PLD5, ZBTB7C, TSSK3, RNF39, BICRA, SUGCT, ZNRD1, SNHG32, NTM, DNAJC27, REEP2, CCHCR1, SDK2, FANCL, CDCA7L, RNF130, PRDM10, C6orf47, GPSM3, FKBPL, COLEC11, DNAJC18, SPDYA, HCG27, AKNAD1, FAM229A, PSORS1C3, USP8P1, MICA, MUC22, ATP6V1G2-DDX39B, SPRY4-AS1, LINC01150, LINC00836, TSBP1-AS1, DISC1FP1, NTM-AS1, LINC02748, LINC02251, LINC02571, SNORA38, NBPF13P, ZNF704, SFTA2, SLC9A9, HCG22, LINC00298, LINC00299, SLC35F4, SH3RF3, LINC00937, CLEC18B, IQCA1L, MUC21, LINC00243, HCG18, HCG17, SLC2A1-AS1, KCNIP1, IL19, ALK, HLA-B, IL10, LTB, MICB, NOTCH4, OXTR, PBX1, PCNT, PIK3C2A, POU2F1, POU5F1, PPP1CB, RPS6KA2, RYR3, SKIV2L, ST14, HLA-DOB, HLA-A, C6orf15, GRM8, ARG1, RHOH, C2, DDR1, CAV3, CBS, CDSN, CREBBP, ATF6B, CYP3A4, CYP21A2, DCK, FGF1, GNL1, GRM5, TAP2, TCF19, TIAM1, TNF, MBNL2, TSBP1, HCP5, TRIM31, FRMPD1, NCBP2, CUX2, LARS2, KIAA1549L, ABTB2, NBEA, CNTN6, TRAV30, RGCC, TMEM230, TRIM10, CREB5, CYP7B1, DDX39B, TNXB, VAV2, ZNF90, MKRN3, TRIM26, PRRC2A, ABHD16A, MAGI1, NELFE, LST1, AKR7A2, CADPS, STX11, CCRL2, LINC02477
  • Solute Carrier Family 4 (Anion Exchanger), Member 1 Omim
    Distal Renal Tubular Acidosis with Hemolytic Anemia Tanphaichitr et al. (1998) described novel AE1 mutations in a Thai family with a recessive syndrome of dRTA and hemolytic anemia in which red cell anion transport was normal (611590).
  • Diabetes Mellitus, Insulin-Dependent Omim
    Porter and Barrett (2005) reviewed monogenic syndromes of abnormal glucose homeostasis, focusing on 3 mechanisms: insulin resistance, insulin secretion defects, and beta-cell apoptosis.
    PTPN22, HNF1A, INS, HP, IFNG, IL2RA, CASP12, IL10, FOXP3, HLA-DRB1, HLA-DQA1, HLA-DQB1, CLEC16A, SH2B3, GLIS3, TYK2, BACH2, CTSH, C1QTNF6, CD69, CAT, NOS3, TNF, CRP, IGF1, IL6, PRKCQ, KCNJ11, PAX4, SLC29A3, STAT3, SLC11A1, FGF21, IL27, ITPR3, CP, ABCC8, NOS1, PRSS1, HSD11B2, IL20, CCR5, NEUROD1, DDIT3, ICA1, G6PC2, IGF2, PTPRN, STAT4, PTPRN2, AIFM1, CCL20, IL4, CXCL10, IL19, CHRM2, GAD2, GH1, CASP3, APOC3, PDX1, GIMAP5, NOS2, CBLB, IL1R1, LGALS3, AIF1, CD40LG, GSTT1, CD38, VWF, FASLG, CDK4, SELL, EGFR, GAL, TNFSF4, SLC18A2, DOCK8, PRF1, CCL11, AGER, IFNGR2, VAV1, HLA-DPB1, CBL, HLA-DQB2, ADRB1, UGT1A1, IFIH1, TAP2, TAP1, ERBB3, E2F1, HLA-DQA2, PTPN2, IRAK3, YY1, MICA, CD226, HLA-B, HLA-A, CFB, DUSP1, SENP1, LTA, AIRE, INS-IGF2, UBASH3A, MMP2, COX2, RPS26, HLA-DPA1, HLA-DRA, STAT1, ABO, TCF19, IL23R, APOM, PSMB9, TH, HLA-DMB, PSMB8, EIF2AK3, GSDMB, PRRC2A, NAA25, FUT2, MPIG6B, SIRPG, GATA3, BTNL2, MMP14, RNLS, DDX39B, HCG18, SUOX, LST1, AFF3, TNFSF15, MAPK14, HLA-DOB, SPINK1, HLA-DMA, RASGRP1, ND1, SBDS, HSPA1L, CTRC, CUX2, KIAA1109, MSH5, IKZF4, GLRA3, ERAP2, IKZF1, BCL2L15, PGM1, CFTR, TNXB, MEG3, MICB, NEUROG3, ADCY7, SNHG32, RAB5B, STK19, ACOXL, IGF2-AS, KIR3DL1, GPANK1, ABHD16A, SLC30A10, SMAD3, LEP, GATD3A, BTN2A3P, BNC2, H2BC15, H3C12, MAPT, SKAP2, LMO7, USO1, EDA, ATG16L1, BAG6, AGTR1, PSTPIP1, EFR3B, STUB1, HCG9, ATXN2L, IFNA1, IFNA13, EHMT2-AS1, CNOT1, TAX1BP3, FNBP1, FLOT1, NUP210, ADGRL2, CAMSAP2, IL1A, TRIM31, EHMT2, ICAM1, HCP5, HLA-C, ABCF1, PTGFR, IAPP, TRDN, HLA-DRB9, NXF1, HLA-L, AGPAT1, CORIN, HNF4A, SORBS1, TSBP1, SIRT1, GPR35, CRB1, GAD1, ZNRD1, ADIPOQ, PPT2, FLNB, FLT1, CD274, ISG20, CLEC2D, INSR, IL18, IL17A, IL13, GABBR1, GABPA, IL12B, SEC14L2, LINC02357, IL7R, ATN1, LINC02829, GCK, GEM, LINC02571, ACP1, IL2, PRKD2, GLP1R, GLUL, GNAO1, IL1B, GCG, DAG1, MBL2, TRNW, ATP6V1G2-DDX39B, PPP1R18, STOX1, MAGI3, MSH5-SAPCD1, HLA-S, OR10A4, TCF4, HECTD4, KCTD1, LURAP1L, NOTCH4, C2, REN, SUMO4, PSORS1C1, PPT2-EGFL8, SLC30A8, UNC5D, RBM45, P2RX5-TAX1BP3, TGM2, DNAJC21, TRIM40, MUCL3, TGFB1, HORMAD2, NFE2L2, TRBV20OR9-2, CD28, DNAH2, TCF7L2, AQP4-AS1, ZFP36L1, BRAF, SFTA2, JAZF1-AS1, SKIV2L, POU5F1, CXCL12, HLA-DPA2, ZGLP1, ATXN2, DNAJC3, APOE, USP8P1, AP4B1-AS1, AKR1B1, ALB, AGT, RNF5, IRF1-AS1, HCG17, SRP54, C1orf141, COL11A2P1, ACAN, MUC21, LINC02649, LINC02694, BCL2, LINC00243, SLC5A1, TRIM26BP, PAX5, PDCD1, SLC16A2, SLC12A3, SLC5A2, LRRK2, GAB3, RMI2, VWA7, CYP21A2, GPSM3, TPO, CARD9, SIRPG-AS1, LY6G6E, CTLA4, EFL1, CSNK2B, COX1, ANKRD55, EHMT1, RNF39, COX3, LINC01250, HPSE2, CYP27B1, PSMB8-AS1, TTC7A, DPP4, MECP2, VEGFA, VDR, VARS2, ZMIZ1, C6orf47, TSBP1-AS1, LY6G5B, LY6G6D, IL21, EDA2R, ACE, LINC00993, SLC44A4, MST1, TRNE, INSM2, TRNS2, TRNS1, TRNQ, TRNL1, SGF29, TRNH, ANKRD30A, TRNF, CLCNKB, CLN3, ND6, NKD1, ND5, FKRP, PRRT1, ND4, OR5V1, OR12D3, LY6G5C, COL1A2, LY6G6C, ITCH, LINC01193, HLA-DOA, WFS1, SH2D1A, DPT, PON1, ST3GAL4, HT, SLC2A1, TLR4, SOD2, BGLAP, ICOS, PIK3CD, TNFRSF11B, CXCR3, IL4R, ERVK-18, TP53, TNFSF10, PTEN, ADA, PIK3CA, LPA, PIK3CG, PIK3CB, CD40, TIMP1, SOD1, CCL2, HSPA4, IDDM8, TLR2, IL7, SLC2A4, IL1RN, TXNIP, PTGS2, CD14, CCR2, ESR1, IL22, HIF1A, CTNNB1, GFAP, KIR2DS1, POMC, RENBP, FOXO1, TCF7, IDDM4, REG1A, DCN, OAS1, PPARG, CYBA, NLRP3, GC, KIR3DL2, TG, TNFSF11, CYP2R1, SERPINA1, LINC02605, ITGAM, C4B, GCGR, DEXI, KRT20, RCBTB1, SLC2A2, TLR3, AVP, CXCL8, SOX13, GOLGA6A, IL15, GDF5, IDDM13, HSP90AA1, MOK, SOST, MS4A1, IL23A, HSPD1, IDDM7, LCN2, CYP24A1, NUDT10, NLRP1, DMD, BEST1, SOCS1, MIR155, SLC14A1, MIR146A, TADA1, TNFRSF9, SNCA, CD80, MTHFR, NFKB1, RAPGEF5, SPP1, IRS1, FN1, LCK, CHRM3, PDLIM7, MBL3P, NPY, GZMB, LAD1, PTPRU, ACTB, SELE, HLA-DRB5, MIR21, HOTAIR, MAFD2, HSPA5, GSTM1, HLA-DRB4, TNFRSF1A, TNFRSF1B, HBA1, ADAMTS5, HLA-DRB3, TRPC6, IDDM6, IDDM3, WG, EGF, TXN, HLA-G, SLC25A3, IL12A, MIR222, MIR34A, THY1, FAS, FOXD3, HAVCR1, IL2RB, APCS, CSN2, HMGB1, GCLC, PTPRC, ACE2, GLO1, VTCN1, DBP, CREM, TJP1, TRAF6, TNFAIP3, FCRL3, CTSC, CHGA, CST3, CISH, COL9A3, CPE, MPO, SERPINE1, CAPSL, CD36, PLXNA2, PML, APC, ANXA1, ANPEP, AMD1P2, MAPK1, AMD1, S100B, ALOX15, C4B_2, RPL17, AHSG, RPL17-C18orf32, ADM, LOC102723407, PERCC1, MTCO2P12, PTH, SHBG, APP, MIR15A, STAT5B, CD34, CD86, TRB, CD19, NHS, HNF1B, CALD1, TBP, STAT5A, MIR126, C4A, TSPO, BTF3P11, BMP2, CXCR5, UCP2, BDNF, MIR125A, CIITA, HRAS, UMOD, HSPA14, SPATA2, IDO1, GDF15, MTOR, FOS, IRF1, IRF7, FOXM1, KL, CD163, TBX21, FCGR3B, NR1I2, HDAC3, KIR2DL2, IL18RAP, TNFRSF11A, ACAD8, IL9, PRPF31, IFNA2, HMOX1, HSPA1A, HPSE, PRSS16, HGF, IDDM11, IDDM15, DKK1, CBLIF, TAB2, GPX4, IGFBP1, IGFBP3, GPT, IGHG3, TPGS2, DLK1, IRF5, TRPV1, RETN, LRP5, IL17D, DPYD, MYDGF, EDNRA, ARNTL2, CELA1, LPL, MIR494, SIRT3, MIR375, USE1, NAMPT, FTO, XYLT1, IL18BP, SELP, GDE1, TNFAIP6, CD2AP, CCL5, ZAP70, MIR326, WDR11, DGCR2, NR1D2, ATP2C1, MIR210, SLC2A3, TSPAN7, TAF5L, CELA3A, CCL3, CCL4, MEPE, TNFSF13B, TRIB3, CXCR6, DEAF1, UPK3B, NFAT5, YAP1, TUBB4B, EBNA1BP2, PLAAT4, RBP4, LANCL1, TNFRSF4, MIR204, RGS1, CLIP2, LINC01672, SLC7A9, CLIP1, S100A12, RABEPK, DDX39A, YES1, SRL, NOD2, COBL, CHDH, HPGDS, MIR20A, NR4A3, ARMH1, SOCS3, PCSK9, SELENBP1, IL33, HFM1, TREM1, TAS2R13, CDK5R1, PROM1, TLR1, NRP1, IL18R1, TSPAN33, RASSF7, CDCA5, ADIPOR1, IDDM17, TGFBI, TP63, SLCO6A1, THBS1, CDR3, TLR8, ISYNA1, SIRT6, NOX4, CNDP1, TNFRSF13C, SOD3, TRBV20-1, TRBV16, MIR132, SLC22A3, SLC22A2, SLC22A4, TRBV7-9, MIR127, SOAT1, TRBC1, ZC3H12A, NCR1, SOX9, ZFP57, SLC19A3, CD101, TUG1, SPRR2A, UCP1, GSTK1, CCHCR1, SIAE, PLA2G7, MSC, IL32, ARHGEF2, ACKR3, H3P28, PTPN1, KLRD1, RUNX2, RUNX1, LBR, CD1D, RPSA, CD3E, CD4, CD27, ENTPD1, LRP1, CD59, KIR3DS1, FCGRT, KIR2DL3, KIR2DL1, KIF5A, KDR, JAK2, LPP, LRP6, CETP, MMP3, APOA1, NFKBIA, MYO9B, ATP4A, B2M, MNAT1, MMP13, MMP9, MMP1, MAP6, BCL2A1, BMP6, MIF, BTC, MEFV, CALCA, MCL1, CALCR, CDKN2A, ITGB7, P2RX7, GCHFR, HBA2, SARDH, DNTT, GPR183, EIF5A, ENG, ENPEP, GLA, ERN1, DHCR7, ESR2, EZH2, G6PC, FYN, GAST, FAT1, FBN1, FCGR3A, HCCS, DEFB1, CCR6, IFN1@, INPP5D, COL1A1, IL6R, IL3, IGH, IGFBP5, IGF1R, CSF2, IDE, HHEX, HSPG2, HSPA2, HSPA1B, HSD11B1, CYBB, CYP2E1, DDOST, DECR1, OXA1L, FCN2, PFKFB3, ADAM10, ACR, PROC, ALOX5, AMY2A, ACTN4, ALOX12, ADRB2, PPARA, ADORA1, PSMD7, AGTR2, AKT1, PCSK1, REG3A, PRKCSH, PRKCB, CUX1, SMOC1, UGDH-AS1, NQO1, CYP2D6, XYLT2, ADORA2A, DHPS, CYP7A1, CTSV, ROBO3, NSD1, CTSL, GORASP1, WDR13, DIAPH2, ERVK-6, GAS5, ADD1, KIR2DL5A, DES, GBA3, STIM2, ZNF410, CFAP97, DEFB4A, SEMA6A, ADD2, DEFA1, ADH5, ADCY3, AICDA, LGR6, LINC-ROR, DAXX, LOC102723971, CYP27A1, PLEKHA1, PLF, IPPK, CRK, CRYZ, FHOD3, AGA, PNPLA3, CRYGD, PDCD1LG2, CD276, CRYAB, AKT2, LINC00958, IL25, CREBBP, CR1, COL11A2, COL4A2, SPX, SETD7, COL2A1, TXNDC5, CNR1, KLRC4-KLRK1, POF1B, PIP4K2C, CSF3, PINK1, DLAT, ERVK-15, UBE2Z, PARP1, GGCT, CTSG, CTSB, ADRA1A, CTRL, OR5H5P, MUL1, ADIPOR2, CCN2, NLRX1, VCAN, ADRA2B, CSK, SUV39H2, WNK1, U2AF1L5, PELI1, PCBP4, F2R, F2, ARID4B, ADA2, RN7SL263P, ETS1, DUOX1, TLR9, ERRFI1, TREM2, ETFA, ESRRA, ABL1, APBB1IP, ESD, DDIT4, CST12P, ERG, LOC105379528, TET2, ERCC1, ABCA1, DINOL, F2RL1, PTK2B, TNDM1, FCGR1B, FCGR1A, FCER2, AAVS1, NDUFA13, ERVK-32, FASN, RMDN1, TUBE1, LARS1, ACSL1, CRBN, FABP2, TLR7, FABP1, KLRF1, CSAD, FABP4, NELFCD, TRPM7, ASPN, ELP6, TOR1A, CNDP2, CSGALNACT1, IL26, ADCY10, PAG1, SELENOS, S1PR1, LMO3, ANGPTL8, DSPP, SYBU, SLC26A3, SLC2A9, PANX2, DPYS, NMUR2, LOC102724971, DNAH8, PRDM10, IDDM18, EDN1, STAP2, CASZ1, QRSL1, SARS2, EPO, BANK1, EPHB4, SLC52A1, MTPAP, RMDN3, ACTG1, KIRREL1, ENO2, MIOX, GIMAP4, ACTG2, ELF3, ELAVL2, EIF4E, EFNA1, EEF2, IL17RB, PLXNA3, ABCC2, CCR8, FAM167A, LTB4R, LOC390714, BLK, BCR, TNFRSF17, MIR487A, MIR486-1, ANXA11, BCAT1, MIR432, BAK1, BAD, MIR202, MIR409, SCGB1D4, CIMT, MIRLET7G, BAAT, ATP7A, MIR130B, ATP6V1E1, MIR136, C1QTNF8, MAFA, POTEM, CA5A, MIR449B, STPG4, SLC9C1, RNF180, SLC25A20, CELIAC2, MMAB, C1QTNF9, DDR1, VWA2, RTL1, CA2, ACTBL2, VPS51, H3P44, C3, NCF1, BRS3, ANXA5, THEMIS, MIR141, MIR142, MIR143, AQP7, MIR27A, MIR29A, MIR30D, MIR31, AQP9, MIR34C, MIR93, MIR96, MIR17HG, AQP3, MIR221, PSG8, APRT, POTEKP, APOA4, OR14J1, ANXA13, MIR328, AOC2, MIR338, AR, MIR216A, MIR145, MIR15B, KIR2DL5B, MIR148A, MIR149, MIR424, MIR150, MIR152, MIR154, ATIC, ATF3, MIR17, ARG2, MIR192, MIR377, MIR193A, MIR195, MIR197, ATD, SERPINC1, MIR206, ARNTL, LYPD5, MIR573, GSDMA, CDK2, CEACAM5, CDX2, CD52, CDKN2B, DEFB4B, KIR3DL3, CDKN1B, APOA5, LEAP2, TAGAP, MIR3150A, CDH13, CDC25C, LRBA, ADAD1, CD74, MIR1225, TRAP, KIR2DS2, SOD2-OT1, ALDH3A2, IL17F, ALOX15B, RBM17, CDCA7, TARP, ASCC2, ZCCHC7, ALDH2, GPT2, CCR4, HAVCR2, ORAI1, ABCC11, PRRT2, CCR3, TSLP, CEACAM21, MCU, CCR1, CHAT, UBXN11, MFSD4B, PRDM6, FAM83H-AS1, CD48, MIR589, DEFA1B, ARID2, KRT8P3, CCNY, PI16, RNASEH1, POTEF, CAV2, NPB, CAV1, ANGPT2, CBR1, MIR640, COPD, SEC14L3, CASP8, CASP1, MIR625, LINC00641, NPW, PGP, SERPINA6, CCK, CD44, EFHB, TNFSF8, DOCK11, MIR885, TNFRSF8, CACUL1, MIR665, AMPD1, CD247, RMDN2, BTLA, CD1A, SLC2A12, CBLL2, SLC35G1, SLC5A8, CD3D, LINC00917, GIMAP7, ANGPT1, OIP5-AS1, CD63, IGHV3OR16-7, IL21R, TM7SF2, MNDA, MMP12, MMP10, TP53BP1, TRP-TGG3-1, TRPC3, MME, TSHR, TTC3, TTC4, TTR, KMT2A, MLH1, CXCL9, U2AF1, UBC, UBE2G1, UBE2I, SUMO1, MGAT5, MGAT1, UCP3, MFGE8, MPP1, MYO1B, KIR2DS4, CYTB, NGFR, NGF, NFKBIL1, TRA, NFKB2, TRG, TRGC1, TFRC, NFATC2, NF2, NEFL, NCAM1, MYD88, THBS2, MYC, MUC1, TIMP2, TIMP3, TRNT, TKT, MTRR, MTTP, NUDT1, MFAP4, VCAM1, MFAP1, MET, MADCAM1, LDHC, F8A1, AXIN2, LAIR1, PLA2G6, DOC2B, CUL4B, CUL4A, CILP, PIK3R3, LAG3, KRT18, KRT8, RNASET2, AOC3, KNG1, PDE5A, TNFRSF25, KLRC3, RIPK2, FADD, TNFRSF18, LEPR, KMT2D, PDHX, MAS1, VEGFC, VIL1, VIM, MAP3K1, MEF2A, WARS1, MDM4, XBP1, XDH, MC4R, NPHS2, LGALS1, ALMS1, SMAD7, MXD1, LIPC, LIF, AIMP2, LHCGR, LGALS3BP, CUBN, PROA, NM, NOTCH2, NOTCH3, SCG5, RXRB, S100A1, S100A8, MAPK8, MAPK7, SARS1, SAT1, MAPK3, SCD, SCO1, PRKCA, CCL3L1, PRKAB1, PRKAA2, CCL8, PRKAA1, PREP, CCL21, SDC2, PPBP, SEL1L, PPARD, POLE, PRL, RPS6KB1, HTRA1, OPN1LW, PSMD12, PSMD8, PVT1, RAC2, RAD51, PSMC6, RAG2, RARB, PSMB5, PSMA6, PSMA3, ROS1, REG1B, RELA, RELB, PSG7, PSG2, PSG1, RGS2, RIT2, RMRP, PRTN3, SRSF5, PLIN1, NOVA1, PLEK, PAEP, P4HB, SST, SSTR4, ORM1, OAS3, NTS, NTRK2, NRAS, STAT6, SULT1E1, STIM1, NPY2R, NPPC, SUV39H1, SYT1, TAC1, TAC3, ADAM17, NPPA, NPHS1, TAPBP, TAT, SPARC, SP3, SOX2, PF4V1, PMEL, PLG, PLAU, PKD1, PI3, PHB, ABCB1, SLC6A6, SERPINA3, CFP, PF4, PRKN, PER1, SERPINF1, PDR, ENPP1, SLC22A5, SUMO2, PDCD2, FSCN1, PCMT1, PAX6, KISS1, KAT2B, FGB, CXCL1, GRN, GRB10, GPX3, ANKS1A, ICOSLG, GPX1, ZDHHC17, SIRT5, FFAR2, GPR42, XCR1, CELA3B, GPI, DDAH2, PADI4, DDAH1, DDX58, GNB3, CA14, SNHG1, PPIL2, IL17RA, PANX1, NR3C1, MLC1, KCNQ1, PMPCA, BTN3A2, FAF1, HCRT, NUDT3, SLC2A6, POLG2, USP18, HARS1, ACOT7, IKZF3, H2AX, CARD8, KLRK1, MMRN1, SIRT2, GYS1, TPX2, GSTM2, GSR, GSN, MCF2L2, GSK3B, NCDN, QPCT, LMOD1, PART1, GLB1, DESI1, PTGER4, IGHV3-69-1, FYB1, TRBV2, TRAV29DV5, TRAJ60, TRAC, FPR3, FLVCR1, FPR2, FMR1, FOXO3, FOXF1, NENF, FGR, SLC2A8, FGF14, FGF3, CD209, FGF2, DUOX2, FGF1, PCSK1N, SLC37A4, PDCD4, GCKR, RNF19A, SOSTDC1, GORASP2, APPL1, POLDIP2, B4GALT1, NOC2L, GFER, MSTN, OR7E66P, GATA4, IL17B, GALNT3, UTP25, SND1, FOXP1, B3GAT1, B4GALNT1, DKK4, NAAA, IL37, IL17C, CIT, HFE, CFHR2, IL5, GRAP2, NTN1, ABCG2, INSRR, INPPL1, FHL5, CHST3, ATG5, STX8, ADAMTS4, ADAMTS3, ADAMTS1, GAL3ST1, IL15RA, SOCS5, CEP135, SART3, IL13RA1, IL12RB2, ELMO1, PUM3, ARHGAP25, MVP, IRAK1, NRXN1, ITGA2B, IVL, KCNJ3, KCNE1, APLN, SPHK1, HERC2, KCNC4, HSPB3, JUN, MAP3K14, JAK1, HGS, ITGA4, SCAF11, LPAR2, IL1RL1, XPR1, ITGB3, ITGB2, ITGB1, STK17B, ITGAX, ITGAL, IL12RB1, ABCB6, SDS, DNM1L, SLC19A2, AHSA1, SLCO1B1, HES1, IGF2BP2, HPRT1, HOXD8, HNRNPK, HNRNPF, HMGCS2, OGA, HLA-E, YME1L1, PHTF1, MASP2, NES, CCL27, HK2, LILRB1, HK1, PPARGC1A, NRG1, KCNQ1OT1, SLC35A1, HSD17B4, PRDX4, RAMP2, IGHM, TSPAN5, IGF2R, EBI3, ALYREF, IFNW1, IFNB1, OLIG2, KLRG1, IFNA17, ID3, BATF, SIGMAR1, ID2, IRF8, AKR1A1, TLR6, HTR1A, CEPT1, NOD1, HSPE1, UNC13B, NAT2
    • Type 1 Diabetes Wikipedia
      Dosage changes can help address that, at the risk of side effects and complications. [94] Women with type 1 diabetes show a higher than normal rate of polycystic ovarian syndrome (PCOS). [96] The reason may be that the ovaries are exposed to high insulin concentrations since women with type 1 diabetes can have frequent hyperglycemia. [97] Epidemiology [ edit ] Type 1 diabetes makes up an estimated 5–10% of all diabetes cases [8] or 11–22 million worldwide. [58] In 2006 it affected 440,000 children under 14 years of age and was the primary cause of diabetes in those less than 10 years of age. [98] The incidence of type 1 diabetes has been increasing by about 3% per year. [98] Rates vary widely by country. ... "Streptozotocin-induced type 1 diabetes in rodents as a model for studying mitochondrial mechanisms of diabetic β cell glucotoxicity" . Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy (Review). 8 : 181–8. doi : 10.2147/DMSO.S82272 .
    • Type 1 Diabetes Mayo_clinic
      Overview Type 1 diabetes, once known as juvenile diabetes or insulin-dependent diabetes, is a chronic condition. In this condition, the pancreas makes little or no insulin. Insulin is a hormone the body uses to allow sugar (glucose) to enter cells to produce energy. Different factors, such as genetics and some viruses, may cause type 1 diabetes. Although type 1 diabetes usually appears during childhood or adolescence, it can develop in adults. Even after a lot of research, type 1 diabetes has no cure. Treatment is directed toward managing the amount of sugar in the blood using insulin, diet and lifestyle to prevent complications.
  • Heart Failure Wikipedia
    Major criteria include an enlarged heart on a chest X-ray, an S3 gallop (a third heart sound ), acute pulmonary edema , episodes of waking up from sleep gasping for air , crackles on lung auscultation , central venous pressure more than 16 cm H 2 O at the right atrium, jugular vein distension , positive abdominojugular test , and weight loss more than 4.5 kg in 5 days in response to treatment (sometimes [50] classified as a minor criterion). [51] Minor criteria include an abnormally fast heart rate more than 120 beats per minute, nocturnal cough , difficulty breathing with physical activity, pleural effusion , a decrease in the vital capacity by one-third from maximum recorded, liver enlargement, and bilateral ankle edema. [51] Minor criteria are acceptable only if they can not be attributed to another medical condition such as pulmonary hypertension , chronic lung disease , cirrhosis , ascites, or the nephrotic syndrome . [51] The Framingham Heart Study criteria are 100% sensitive and 78% specific for identifying persons with definite congestive heart failure. [51] ESC algorithm [ edit ] The ESC algorithm weights these parameters in establishing the diagnosis of heart failure: [24] Diagnostic assessments supporting the presence of heart failure Assessment Diagnosis of heart failure Supports if present Opposes if normal or absent Compatible symptoms ++ ++ Compatible signs ++ + Cardiac dysfunction on echocardiography +++ +++ Response of symptoms or signs to therapy +++ ++ ECG Normal ++ Abnormal ++ + Dysrhythmia +++ + Laboratory Elevated BNP/NT-proBNP +++ + Low/normal BNP/NT-proBNP + +++ Low blood sodium + + Kidney dysfunction + + Mild elevations of troponin + + Chest X-ray Pulmonary congestion +++ + Reduced exercise capacity +++ ++ Abnormal pulmonary function tests + + Abnormal hemodynamics at rest +++ ++ + = some importance; ++ = intermediate importance; +++ = great importance.
    NOS3, NOS2, NR3C2, ACACA, PRKAR2B, SOD1, SLC9A1, CCL2, REN, RBP4, RAC1, PTGS2, PTGS1, PTH, PRL, MAP2K7, PPARG, PPP1R1A, SOD3, PON1, POMC, PLAT, PIK3CG, PDPK1, PDGFRA, PCK1, SERPINE1, PEBP1, SOD2, SOX4, NPR1, PPARGC1A, UCN2, KAT8, FIP1L1, ELOVL6, TBX20, RETN, GHRL, NOX4, NOX1, BAMBI, SIRT1, DSTN, FBLN5, TLR2, GDF15, ROCK2, HAND2, ADIPOQ, NRIP1, XDH, VWF, VEGFA, UCP1, TNNT2, TNFRSF1A, TNF, ACADS, OLR1, NPPB, ATP2A2, NPPA, CYBB, CCN2, CSF3, CSF2, CS, CRP, CIDEA, CAT, AVPR2, AVP, ATP2A1, EDN1, ATP1A3, APOC1, APCS, ALB, AGTR1, AGT, GRK2, ADRB3, ADRB1, ADRA2C, ACLY, CFD, ACE, EDNRA, GSK3B, NFE2L2, ITGB1, INS, CXCL8, IL6, IL1B, IFNG, HTR2B, HSPB1, HMOX1, NRG1, HIF1A, CXCL2, GCG, EDNRB, EPHX2, FASN, GATM, MSTN, GPX4, TP53, SCD, TUBB, TTN, DSP, ATP5F1D, TTN-AS1, APOE, PRKCD, PNPLA2, ADRB2, SERPINA5, JARID2
  • Familial Hypercholesterolemia Wikipedia
    Mutations are detected in between 50 and 80% of cases; those without a mutation often have higher triglyceride levels and may in fact have other causes for their high cholesterol, such as combined hyperlipidemia due to metabolic syndrome . [9] Differential diagnosis [ edit ] FH needs to be distinguished from familial combined hyperlipidemia and polygenic hypercholesterolemia . ... External links [ edit ] MedicinePlus: Familial Hypercholesterolemia Classification D ICD - 10 : E78.0 ICD - 10-CM : E78.01 ICD - 9-CM : 272.0 OMIM : 143890 MeSH : D006938 DiseasesDB : 4707 External resources MedlinePlus : 000392 eMedicine : med/1072 v t e Inborn error of lipid metabolism : dyslipidemia Hyperlipidemia Hypercholesterolemia / Hypertriglyceridemia Lipoprotein lipase deficiency/Type Ia Familial apoprotein CII deficiency/Type Ib Familial hypercholesterolemia/Type IIa Combined hyperlipidemia/Type IIb Familial dysbetalipoproteinemia/Type III Familial hypertriglyceridemia/Type IV Xanthoma/Xanthomatosis Hypolipoproteinemia Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease Lipodystrophy Barraquer–Simons syndrome Other Lipomatosis Adiposis dolorosa Lipoid proteinosis APOA1 familial renal amyloidosis 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
    LDLR, APOB, PCSK9, LDLRAP1, APOE, CETP, LPL, PON1, HMGCR, ABCG5, ABCA1, APOA4, PON2, ABCG8, LIPC, SREBF2, APOA2, APOC3, GK, STAP1, ZNF823, PDE4A, TYK2, ZNF846, PRKCSH, ZNF561, FARSA, ZNF561-AS1, ICAM3, MIR6886, RAVER1, ZNF317, C3P1, KANK2, LPA, CACNA1A, ZNF562, CARM1, CDC37, ZNF563, APOA1, EGF, CRP, SLCO1B1, CYP7A1, TNF, ANGPTL3, CAD, LIPA, CHDH, COL9A2, COL9A3, COMP, ABCB1, SELE, SCN8A, COL9A1, LRP1, LCAT, REN, MMP9, MYBPC3, NHS, OCA2, SERPINE1, CCN6, SLC2A1, PEA15, THBD, PLA2G7, VLDLR, AGT, CXCR1, MIR505, AGO2, CXCL8, ACE, VSX1, F3, CCR4, HLP, HPD, RUNX1, NR3C1, MIR33A, ALOX5AP, FTH1, ADPRH, SACS, TNFRSF10C, TNFRSF10A, TNFSF10, PHACTR1, TNFRSF10D, KHSRP, LINC01194, PDE5A, APOA5, APOL1, HMGA2, FGF23, LINC01672, USF2, USF1, PNPLA5, ADIPOQ, CH25H, TNFRSF13C, MYLIP, INSIG2, HDL3, PLA2G15, TBC1D9, COG2, PSIP1, TNFSF13B, ACSS2, PLAAT1, AICDA, KIDINS220, TRIB1, MVP, SEMA6A, ABCG2, LIPG, ADRB3, ACCS, SIGLEC7, CD163, TYRP1, ROS1, TXN, TNFSF4, GH1, GHR, GLB1, GCLC, GPT, GPX4, CXCL3, GSS, HCLS1, CFH, HSPG2, ICAM1, IL1B, IL2RB, IL4R, FGB, EXT2, EXT1, ANXA5, APOC2, APOH, BTF3P11, C4BPA, C4BPB, CD28, COX7B, ESR1, CRABP2, CUX1, EDN1, CELSR2, EGFR, EPHX2, IL6, IL10, IL18, SP1, S100A12, SCNN1A, SDC2, SLC22A3, SMARCA4, SORL1, STAT1, POR, TCF3, TGFB1, TIMP1, TLR4, TNFRSF1B, TNNT1, PTPRC, ABO, ITGB2, MMP1, KDR, STMN1, ALOX5, ABCD2, LRP5, KMT2A, MMP2, TNFRSF11B, MMP3, MPO, MTHFR, NOS3, NPPA, OLR1, DALIR
    • Familial Hypercholesterolemia Gene_reviews
      Risk factors: Clinically evident CAD or other atherosclerotic cardiovascular disease; the goal is LDL-C level of <70 mg/dL (<1.8 mmol/L) Diabetes mellitus or metabolic syndrome Family history of very early CAD (men age <45 years; women age <55 years) Current smoking High lipoprotein(a) (≥50 mg/dL [≥1.3 mmol/L] using an isoform insensitive assay) The second-line agent for individuals with FH who do not achieve acceptable LDL-C levels is generally ezetimibe.
    • Familial Hypercholesterolemia Mayo_clinic
      Overview Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack. The genetic changes that cause familial hypercholesterolemia are inherited. The condition is present from birth, but symptoms may not appear until adulthood. People who inherit the condition from both parents usually develop symptoms in childhood.
  • Color Blindness Wikipedia
    They comprise about 8% of human males and 0.6% of females of Northern European ancestry. [22] Some of the inherited diseases known to cause color blindness are: cone dystrophy cone-rod dystrophy achromatopsia (also called rod monochromatism, stationary cone dystrophy or cone dysfunction syndrome) blue cone monochromatism (also called blue cone monochromacy or X-linked achromatopsia) Leber's congenital amaurosis retinitis pigmentosa (initially affects rods but can later progress to cones and therefore color blindness).
    CNGA3, PDE6H, GNAT2, CNGB3, ATF6, G6PD, F9, PTCH1, RET, TAS2R38, CCDC6, SART3, AIFM1, SND1, TPX2, PAG1, PCBP4, NAA50, AMN, DYRK3, OPN1SW, PMEL, OPN1LW, OPA1, OAS3, NFKB2, MYP1, INS, IK, EIF4E, CUX1, CREBBP, ASCC2
    • Color Blindness Mayo_clinic
      Overview Color blindness — or more accurately, poor or deficient color vision — is an inability to see the difference between certain colors. Though many people commonly use the term "color blind" for this condition, true color blindness — in which everything is seen in shades of black and white — is rare. Color blindness is usually inherited. Men are more likely to be born with color blindness. Most people with color blindness can't distinguish between certain shades of red and green. Less commonly, people with color blindness can't distinguish between shades of blue and yellow.
  • Anaphylaxis Wikipedia
    Specialty Allergy and immunology Symptoms Itchy rash, throat swelling, shortness of breath, lightheadedness, [1] Usual onset Over minutes to hours [1] Causes Insect bites, foods, medications [1] Diagnostic method Based on symptoms [2] Differential diagnosis Allergic reaction , angioedema , asthma exacerbation , carcinoid syndrome [2] Treatment Epinephrine , intravenous fluids [1] Frequency 0.05–2% [3] Anaphylaxis is a serious allergic reaction that is rapid in onset and may cause death . [4] [5] It typically causes more than one of the following: an itchy rash, throat or tongue swelling, shortness of breath , vomiting , lightheadedness, low blood pressure . [1] These symptoms typically come on over minutes to hours. [1] Common causes include insect bites and stings, foods, and medications. [1] Other causes include latex exposure and exercise. [1] Additionally, cases may occur without an obvious reason. [1] The mechanism involves the release of mediators from certain types of white blood cells triggered by either immunologic or non-immunologic mechanisms. [6] Diagnosis is based on the presenting symptoms and signs after exposure to a potential allergen . [1] The primary treatment of anaphylaxis is epinephrine injection into a muscle , intravenous fluids , and positioning the person flat. [1] [7] Additional doses of epinephrine may be required. [1] Other measures, such as antihistamines and steroids , are complementary. [1] Carrying an epinephrine autoinjector and identification regarding the condition is recommended in people with a history of anaphylaxis. [1] Worldwide, 0.05–2% of the population is estimated to experience anaphylaxis at some point in life. [3] Rates appear to be increasing. [3] It occurs most often in young people and females. [7] [8] Of people who go to a hospital with anaphylaxis in the United States about 99.7% survive. [9] The term comes from the Ancient Greek : ἀνά , romanized : ana , lit. ... National Library of Medicine. v t e Consequences of external causes Temperature Elevated Hyperthermia Heat syncope Reduced Hypothermia Immersion foot syndromes Trench foot Tropical immersion foot Warm water immersion foot Chilblains Frostbite Aerosol burn Cold intolerance Acrocyanosis Erythrocyanosis crurum Radiation Radiation poisoning Radiation burn Chronic radiation keratosis Eosinophilic, polymorphic, and pruritic eruption associated with radiotherapy Radiation acne Radiation-induced cancer Radiation recall reaction Radiation-induced erythema multiforme Radiation-induced hypertrophic scar Radiation-induced keloid Radiation-induced morphea Air Hypoxia / Asphyxia Barotrauma Aerosinusitis Decompression sickness High altitude Altitude sickness Chronic mountain sickness Death zone HAPE HACE Food Starvation Maltreatment Physical abuse Sexual abuse Psychological abuse Travel Motion sickness Seasickness Airsickness Space adaptation syndrome Adverse effect Hypersensitivity Anaphylaxis Angioedema Allergy Arthus reaction Adverse drug reaction Other Electrical injury Drowning Lightning injuries Ungrouped skin conditions resulting from physical factors Dermatosis neglecta Pinch mark Pseudoverrucous papules and nodules Sclerosing lymphangitis Tropical anhidrotic asthenia UV-sensitive syndrome environmental skin conditions Electrical burn frictional/traumatic/sports Black heel and palm Equestrian perniosis Jogger's nipple Pulling boat hands Runner's rump Surfer's knots Tennis toe Vibration white finger Weathering nodule of ear Wrestler's ear Coral cut Painful fat herniation Uranium dermatosis iv use Skin pop scar Skin track Slap mark Pseudoacanthosis nigricans Narcotic dermopathy v t e Shock Distributive Septic shock Neurogenic shock Anaphylactic shock Toxic shock syndrome Obstructive Abdominal compartment syndrome Low volume Hemorrhage Hypovolemia Osmotic shock Other Spinal shock Cryptic shock Vasodilatory shock v t e Hypersensitivity and autoimmune diseases Type I / allergy / atopy ( IgE ) Foreign Atopic eczema Allergic urticaria Allergic rhinitis (Hay fever) Allergic asthma Anaphylaxis Food allergy common allergies include: Milk Egg Peanut Tree nut Seafood Soy Wheat Penicillin allergy Autoimmune Eosinophilic esophagitis Type II / ADCC IgM IgG Foreign Hemolytic disease of the newborn Autoimmune Cytotoxic Autoimmune hemolytic anemia Immune thrombocytopenic purpura Bullous pemphigoid Pemphigus vulgaris Rheumatic fever Goodpasture syndrome Guillain–Barré syndrome " Type V "/ receptor Graves' disease Myasthenia gravis Pernicious anemia Type III ( Immune complex ) Foreign Henoch–Schönlein purpura Hypersensitivity vasculitis Reactive arthritis Farmer's lung Post-streptococcal glomerulonephritis Serum sickness Arthus reaction Autoimmune Systemic lupus erythematosus Subacute bacterial endocarditis Rheumatoid arthritis Type IV / cell-mediated ( T cells ) Foreign Allergic contact dermatitis Mantoux test Autoimmune Diabetes mellitus type 1 Hashimoto's thyroiditis Multiple sclerosis Coeliac disease Giant-cell arteritis Postorgasmic illness syndrome Reactive arthritis GVHD Transfusion-associated graft versus host disease Unknown/ multiple Foreign Hypersensitivity pneumonitis Allergic bronchopulmonary aspergillosis Transplant rejection Latex allergy (I+IV) Autoimmune Sjögren syndrome Autoimmune hepatitis Autoimmune polyendocrine syndrome APS1 APS2 Autoimmune adrenalitis Systemic autoimmune disease Authority control NDL : 01163594
    KNG1, ASPG, LTB4R, NLRP3, BTK, PTGS1, PTGS2, ADRB1, VCAM1, TPSD1, ACE, F9, VWF, CD63, FCGR2B, HP, MRGPRX2, FCGR3A, FCGR2A, STK11, MILR1, CCL2, IL10, IL33, TNF, FCGR1A, OGA, FCER1A, IL6, CD33, SIRT1, IL9, FCGR3B, IL4, MCAT, IL5, MCPH1, STAT3, IGHE, SLC16A1, ADRB2, COX8A, PTPN1, VEGFA, RHD, TRPV1, ABHD16A, NR0B2, TRPC1, SCN5A, SAA1, PVALB, RPE65, TM7SF2, STXBP2, RGS13, STAT6, BHLHE40, SPG7, CCL7, SAA2, CCL3, PTPN6, ABL1, SOCS1, NT5C3A, TNFRSF12A, ARHGEF40, WDR11, CYSLTR2, AICDA, AHRR, CABS1, TSLP, SESTD1, C20orf181, LINC01672, LOC102723407, LOC102723971, LOC102724971, LINC02210-CRHR1, BFAR, CPA4, TNFSF10, IGHV3-69-1, HDAC3, SOCS3, HACD1, PCLAF, NR1H4, IL18BP, CAP1, PROC, SORBS1, MASP2, BRD4, PART1, CHIC2, SGSM3, IGHV3OR16-7, PTAFR, MTTP, PLSCR1, RCAN1, CPN1, CRH, CRHR1, CSF3, CTAA1, CTSD, DNASE1, ELAVL2, CHRM3, EPO, ESR1, ESR2, F8, F10, MS4A2, FCGR1B, CPA3, CDH15, PITX2, APOA1, ACADM, ADAM10, JAG1, AGT, AGXT, AHR, ANGPT1, FASLG, CD36, ARSA, AVP, BAAT, BRAF, TSPO, CD80, CD86, FLG, GAPDH, GATA1, NFKB1, LNPEP, LTC4S, LYZ, MITF, MPO, MRC1, ABO, NHS, GATA2, NOS3, NOTCH1, PAEP, PAFAH1B2, PECAM1, PFAS, SERPINB6, KIT, ISG20, IL18, IL17A, GCG, GPT, HDC, HLA-DQB1, NR4A1, HSPA4, HTR3A, ICAM1, IFNG, IGH, IL1A, IL1B, IL2RA, IL4R, IL13, PERCC1
    • Anaphylaxis Mayo_clinic
      Symptoms Anaphylaxis symptoms usually occur within minutes of exposure to an allergen. Sometimes, however, anaphylaxis can occur a half-hour or longer after exposure. In rare cases, anaphylaxis may be delayed for hours. Signs and symptoms include: Skin reactions, including hives and itching and flushed or pale skin Low blood pressure (hypotension) Constriction of the airways and a swollen tongue or throat, which can cause wheezing and trouble breathing A weak and rapid pulse Nausea, vomiting or diarrhea Dizziness or fainting When to see a doctor Seek emergency medical help if you, your child or someone else you're with has a severe allergic reaction. Don't wait to see if the symptoms go away. If you have an attack and you carry an epinephrine autoinjector, administer it right away. Even if symptoms improve after the injection, you still need to go to an emergency room to make sure symptoms don't recur, even without more exposure to the allergen.
  • Benign Prostatic Hyperplasia Wikipedia
    Men older than 60 in rural areas had very low rates of clinical BPH, while men living in cities and consuming more animal protein had a higher incidence. [28] [29] On the other hand, a study in Japanese-American men in Hawaii found a strong negative association with alcohol intake, but a weak positive association with beef intake. [30] In a large prospective cohort study in the US (the Health Professionals Follow-up Study), investigators reported modest associations between BPH (men with strong symptoms of BPH or surgically confirmed BPH) and total energy and protein, but not fat intake. [31] There is also epidemiological evidence linking BPH with metabolic syndrome (concurrent obesity , impaired glucose metabolism and diabetes , high triglyceride levels , high levels of low-density cholesterol, and hypertension ). [32] Degeneration [ edit ] Benign prostatic hyperplasia is an age-related disease. ... PMID 11916755 . ^ Gacci, M (2015). "Metabolic syndrome and benign prostatic enlargement: a systematic review and meta-analysis" . ... Extrinsic Compression by Prostate Classification D ICD - 10 : N40 ICD - 9-CM : 600 OMIM : 600082 MeSH : D011470 DiseasesDB : 10797 External resources MedlinePlus : 000381 eMedicine : med/1919 Patient UK : Benign prostatic hyperplasia v t e Male diseases of the pelvis and genitals Internal Testicular Orchitis Hydrocele testis Testicular cancer Testicular torsion Male infertility Aspermia Asthenozoospermia Azoospermia Hyperspermia Hypospermia Oligospermia Necrospermia Teratospermia Epididymis Epididymitis Spermatocele Hematocele Prostate Prostatitis Acute prostatitis Chronic bacterial prostatitis Chronic prostatitis/chronic pelvic pain syndrome Asymptomatic inflammatory prostatitis Benign prostatic hyperplasia Prostate cancer Seminal vesicle Seminal vesiculitis External Penis Balanoposthitis / Balanitis Balanitis plasmacellularis Pseudoepitheliomatous keratotic and micaceous balanitis Phimosis Paraphimosis Priapism Sexual dysfunction Erectile dysfunction Peyronie's disease Penile cancer Penile fracture Balanitis xerotica obliterans Other Hematospermia Retrograde ejaculation Postorgasmic illness syndrome Authority control GND : 4137018-1 NDL : 00967993
    KLK3, SRD5A2, FGF7, PRL, FGFR2, CYP19A1, TBX3, BCL2, NPEPPS, DLEU1, PTGS2, PROS1, PLAG1, UNC13A, CYP17A1, IL6, PSAT1, AR, BET1L, BCL11A, ODF3, ESR1, FGF2, IGF1, WDR11, CLPTM1L, GSTP1, ELOVL6, GATA5, GCLC, HNF1B, TGFB1, SYN3, PDE5A, VDR, STARD4-AS1, C5orf66, TP53, PCA3, PCNA, VEGFA, FOLH1, ARIH1, IGFBP3, ESR2, CXCL8, ERBB2, GSTM1, PTEN, ADRA1A, EGFR, TMPRSS2, ACE, HPGDS, CYP3A4, IL4, IGF2, COX2, TBC1D9, ABCB1, MMP9, CASP3, SRD5A1, IFNG, GHRH, NGF, MSMB, MTCO2P12, TRPV6, AKT1, RMC1, MIR21, DNMT1, GDF15, IL17A, CCN1, ADIPOQ, PSCA, GSTT1, IL2, GNRH1, PIK3CA, KDR, DKK3, THRB, STAT3, FLVCR1, FGFR1, CCL2, PPARG, CCL5, CD44, CD82, ELAC2, HSD17B7, MED15, EGF, IL18, MAPK7, IL10, PROM1, TGFB2, ACTB, CD34, MMP2, CIP2A, GPRC5A, PIK3CB, RARRES1, PIM1, NOS3, NOS2, MIR141, AMACR, HIF1A, MAPK14, CTNNB1, CYP1A1, PIK3CG, NCOA1, PIK3CD, IGFBP5, GLI2, NR1I2, IGFBP7, ZNF410, TRPV1, GPER1, KIDINS220, SOX11, GRP, HPN, KLF4, IL17RB, SPP1, TWIST1, IGF1R, GSR, LEP, SOX2, TGM4, MYC, ODC1, CBX4, RARB, RASSF1, PGF, PLK1, MST1, PON1, CXCR6, PRG2, MAPK1, TGFB3, POSTN, RNASEL, MSR1, LONP1, TIMP2, SHBG, TLR4, TGFA, ITGA4, TIMP3, KIT, KRAS, MMP14, LPL, AKAP12, S100A9, MLH1, MAGI2, FGF17, NTSR1, PCAP, GGCT, LMLN, NQO1, TSPO, MIR375, PWAR1, SLCO6A1, CXCR5, EDNRB, AZIN2, PPP1R14A, CCR2, ERG, ETS1, EZH2, F2R, HOTAIR, SPATA19, CYP11A1, CYP3A5, GSTK1, MIR145, CCR7, COMT, CGA, KLF6, CDKN2A, GADL1, ALKBH3, CDH1, CD81, CRP, CCNB1, VCAN, CSTA, APOB, CHRM3, ADCYAP1, ADRA1D, GATA6, ADCYAP1R1, SLC52A2, TMPRSS13, ALDH1A1, H4C6, KAT5, IFI44, MIR223, MIR25, H4C4, MIR221, CXCL13, TXNRD2, AHSA1, VAT1, PCAT1, FST, YAP1, TXNIP, MIR301A, STAG1, SPRY2, H4C11, H4C3, TSPAN1, RCE1, DLEC1, MFN2, RABGAP1L, H4C12, MIR205, MIR206, MIR15A, MIR143, FGF23, LILRA3, KLK11, IMMT, MIA, TAM, PRDX3, H3P10, HPSE, HBS1L, CTCF, MIR320A, MIR184, KHDRBS1, LINC02605, MIR187, H4C9, MIR191, AXIN1, MIR20A, H4C1, LOC110366354, NPRL2, SETDB1, KLK4, MIR34B, MIR615, SLC33A1, LPAR2, POTEF, SOCS3, SQSTM1, SPOP, GGT2, NCK1-DT, GGTLC4P, RECK, SCHLAP1, PGR-AS1, CDKN2B-AS1, PIK3R3, RIPK1, ARLNC1, EIF3H, DYNLL1, MIR708, FCGR1CP, PSMG1, MIR2909, LINC01672, CBR3-AS1, RNASEK-C17orf49, GGTLC3, DCLK1, AP3B1, GGTLC5P, H4C8, MIR34C, H4C2, CXCL14, MIR17HG, MIR373, TBPL1, H4C5, ADAMTS1, PAGE4, MAP4K4, H4C15, AIM2, GRAP2, H4C13, COX5A, MIR139, POU5F1P3, ITGBL1, PCSEAT, SLIT2, H4C14, RASSF10, POU5F1P4, AURKB, MIR193B, ENDOD1, MIR130B, ISYNA1, HAVCR2, IMP3, RMDN3, CEP55, ANO1, SLC25A21, TGIF2LX, GADD45GIP1, MTDH, TUG1, LEMD1, CGB5, CGB8, TRPM7, MARCHF5, UGT1A1, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A10, TXNRD3, GNRHR2, KRT20, TLR9, PTOV1, UHRF2, ARL11, GDE1, KLK15, ACCS, ACSS2, ACE2, ATG9A, IL25, SMURF2, GOLPH3, WDR77, PCGEM1, PANK2, FUZ, CD276, ZFP91, OR51E2, AFAP1, LGR6, IL21, TDRD1, CXCL16, ARHGAP24, CCDC8, MIB1, QRFPR, NDRG2, NDRG3, CD177, AKR1B10, ACKR3, PRAC1, PMEPA1, SLC2A9, TMEM45B, H4-16, MIR126, ZBTB7A, ANKS4B, STEAP2, KLK5, BAMBI, H19, IL17RA, PLA2G15, NUP62, SSBP2, EPHA6, HAAO, HEY2, HEY1, NANOS2, ANGPTL2, SAP30L-AS1, SULF1, MIRLET7B, SEPTIN6, KDM4C, SWAP70, CYP3A43, MIRLET7C, DKK1, ELL2, SLC2A6, MIR106A, CDC37, PIM2, CTAG1A, RNF19A, GLCE, IL21R, FGD4, C17orf49, MZB1, OR51E1, DCTN4, ANGPTL4, ADIPOR1, PRLH, FOXP3, IRX4, PAQR3, KLB, IL22, SMARCAL1, POLDIP2, NRBP1, CREBRF, CD274, PYCARD, RANBP3L, GIT1, HTRA2, PDCD4, IL17B, VWCE, STEAP1, SNORD48, RFX6, A2M, SEMA3F, AIMP2, FLI1, FGF10, FGFR3, FGFR4, FGL1, FOXF1, FOXF2, FOXM1, FLT1, GATA3, FLT4, FN1, MTOR, FTH1, FTL, FYN, GABPA, FGF9, FCGR1B, FCGR1A, PTK2B, DUSP1, DUSP2, DUT, E2F1, LPAR1, EDN1, EDNRA, EFNA2, EGR1, ELN, MARK2, ENO2, EPHB2, EPOR, F2RL1, GALNT3, GDNF, ZNF165, HSPA1A, HOXD3, HP, HPS1, HES1, HSD17B1, HSD17B3, HSD17B2, HSPA1B, GGT1, HTC2, ID1, CFI, IFNA1, IFNA13, IGFBP2, IL1RN, HOXC6, HOXA7, HMMR, HMGA1, GH1, GLI1, GNRHR, SFN, GPC1, GPR42, GSTM3, GTF2H1, GTF2H2, GUCA2B, HDAC1, HHEX, HIC1, HLA-A, HLA-G, DRD2, DRD1, DPP4, ALDH7A1, ARG1, RHOA, STS, ATF3, ATM, RERE, ATP12A, BAX, CFD, CCND1, BMP2, BMP5, BMP6, BPI, BRCA1, BRS3, ARF6, APC, ANXA7, ANXA2, ABCA1, ABL2, ACR, ACP3, ADM, ADRA1B, ADRA2B, AGTR1, AHR, AKT2, ALOX12, ALOX5, ALOX15, ALOX15B, ANGPT2, CA9, CALCA, CANX, CNR1, COX8A, CLDN3, CPOX, CRAT, CRK, CRYZ, CSF2, CST3, CTAG1B, CTNND2, CTSB, CYP1B1, CYP2B6, DAPK1, DAXX, MAP3K8, CCR5, CASP9, CMA1, CAT, CAV1, CAV2, CAV3, CD28, CD63, CDC6, CDK4, CDKN1B, CDO1, CDX2, CGB3, CHRM2, CISH, CLU, IL6R, IL7, CXCR1, SFRP4, S100A11, SATB1, CCL3, CCL19, NAT2, SFRP1, SFRP2, SGK1, KLK7, SIM2, SLC7A1, SLC18A1, SLC22A3, SNAI1, SOD1, SOX9, S100A8, S100A6, S100A2, RPS10, PTK7, PTN, PXN, PYCR1, RARRES2, REN, RENBP, RNF2, RNY1, RNY3, RNY4, RNY5, ROCK1, RORA, RPL10, SPINK1, SPINT1, SRC, TNF, TP73, TPM1, TRAF6, TRPS1, TXN, UGT2B15, UGT2B17, USF2, VCL, VEGFB, VIM, VIPR1, WIPF1, YY1, ZFX, TOP2A, TLN1, SRF, TIMP1, SRY, SST, SSTR1, SSTR2, SSTR4, STAT5A, STC1, SULT1E1, TMBIM6, TERF2, TFF1, TFF3, TFRC, THBS1, THBS2, PTHLH, PPARD, IL10RA, MAS1, LPA, LTBR, LYZ, TM4SF1, SMAD2, SMAD4, SMAD9, MAZ, PPARA, MCAM, MEIS2, MAP3K3, MAP3K5, MET, KITLG, MGMT, LOX, LDHA, LASP1, LAMP2, IL10RB, IL13, IL15, ILK, IDO1, INHA, INSL3, INSR, ITGA6, JAK2, JUN, KCNK2, KCNMA1, KLK2, KRT15, MKI67, MMP3, MMP7, PAK1, PAX2, PAX5, ENPP1, ENPP2, SERPINF1, PGC, PGR, SERPINB5, PLAU, PLCL1, PLD1, FXYD3, PLXNA1, PMS1, POU5F1, PAM, P2RX1, MPO, OXTR, MRC1, MRE11, MSH2, MTHFR, MXI1, HNRNPM, NAIP, NELL2, NFE2L2, NFIB, NFKB1, NGFR, NME1, CCN3, OSM, H3P33
    • Benign Prostatic Hyperplasia (Bph) Mayo_clinic
      Overview Benign prostatic hyperplasia (BPH) is a health issue that becomes more common with age. It's also called an enlarged prostate. The prostate is a small gland that helps make semen. It's found just below the bladder. And it often gets bigger as you get older. An enlarged prostate can cause symptoms that may bother you, such as blocking the flow of urine out of the bladder. It also can cause bladder, urinary tract or kidney problems. Many treatments can help BPH .
    • Prostatic Hyperplasia, Benign Omim
      Description Benign prostatic hyperplasia (BPH) refers to the nonmalignant growth of the prostate gland, and is histologically defined as hyperplasia of the prostate gland. BPH is an age-related phenomenon in men beginning at about age 40 years. BPH may result in prostatic enlargement and clinical symptoms most commonly affecting the lower urinary tract. These symptoms may be obstructive, including hesitancy, weak flow, and urinary retention, or irritative, including increased frequency and urgency. However, not all men with histologic BPH will develop prostatic enlargement or urinary symptoms (review by Roehrborn, 2005).
  • Ebola Wikipedia
    In field or mobile hospitals, the most common and sensitive diagnostic methods are real-time PCR and ELISA. [99] In 2014, with new mobile testing facilities deployed in parts of Liberia, test results were obtained 3–5 hours after sample submission. [100] In 2015, a rapid antigen test which gives results in 15 minutes was approved for use by WHO. [101] It is able to confirm Ebola in 92% of those affected and rule it out in 85% of those not affected. [101] Differential diagnosis Early symptoms of EVD may be similar to those of other diseases common in Africa, including malaria and dengue fever . [25] The symptoms are also similar to those of other viral haemorrhagic fevers such as Marburg virus disease , Crimean–Congo haemorrhagic fever , and Lassa fever . [102] [103] The complete differential diagnosis is extensive and requires consideration of many other infectious diseases such as typhoid fever , shigellosis , rickettsial diseases , cholera , sepsis , borreliosis , EHEC enteritis , leptospirosis , scrub typhus , plague , Q fever , candidiasis , histoplasmosis , trypanosomiasis , visceral leishmaniasis , measles , and viral hepatitis among others. [104] Non-infectious diseases that may result in symptoms similar to those of EVD include acute promyelocytic leukaemia , haemolytic uraemic syndrome , snake envenomation , clotting factor deficiencies/platelet disorders, thrombotic thrombocytopenic purpura , hereditary haemorrhagic telangiectasia , Kawasaki disease , and warfarin poisoning. [99] [105] [106] [107] Prevention Main article: Prevention of viral hemorrhagic fever Vaccines Main article: Ebola vaccine An Ebola vaccine , rVSV-ZEBOV , was approved in the United States in December 2019. [8] It appears to be fully effective ten days after being given. [8] It was studied in Guinea between 2014, and 2016. [8] More than 100,000 people have been vaccinated against Ebola as of 2019 [update] . [108] Infection control VHF isolation precautions poster Caregivers British woman wearing protective gear People who care for those infected with Ebola should wear protective clothing including masks, gloves, gowns and goggles. [109] The U.S.
    SARS1, ERVK-6, SARS2, ERVK-20, NPC1, ERVW-1, TLR4, TIMELESS, RBBP6, ARHGEF5, HAVCR1, ERVK-32, STAT1, PLAAT4, IFNG, TNF, NEDD4, BST2, GP2, ZNF415, IL10, BAG3, IL6, IFNA13, LSAMP, ATM, ROBO3, ANXA5, IFNB1, IFNA1, PIKFYVE, DDX58, LAMP3, PRKRA, CD209, TPCN2, SLC25A19, IFI30, RUVBL2, LGR6, HAMP, APEX2, MAVS, PELI1, ZC3HAV1, TLR7, CLEC10A, VAC14, MERTK, HSPA14, CASZ1, CPVL, NUSAP1, LPAR3, RETREG1, TLR9, SEPTIN8, MUL1, SMYD3, MIR155, ANO6, GPRC6A, MRGPRX1, CLEC4G, CCL4L1, VHLL, MIR320A, CBLL2, VN1R17P, GPR166P, MIR196B, MIR1246, ECT, LINC01672, OXER1, GPR151, GNPTAB, HAVCR2, IRF9, FUZ, LNPK, HM13, RILP, NTPCR, DISP1, TRIM6, TIMD4, PRDM6, NLRP3, MRGPRX3, MRGPRX4, RLN3, IFITM3, ACP2, ISG15, IL18, HLA-B, HMOX1, HSPA5, HSPD1, IL1B, IL4, IRF1, GP5, IRF7, ITPA, JUN, JUNB, JUND, KPNA1, HLA-A, GALNT1, GTPBP1, EGI, AGRP, ALB, CDSN, CSF2, DAG1, DPAGT1, EIF5A, FOSB, ESR1, FCGR1A, FCGR1B, FOLR1, FOLR2, FOS, KPNA5, LAMP1, LGALS1, ACTB, VTN, XRCC5, USP7, CCDC6, FZD4, RUVBL1, MBTPS1, NHS, RAB11A, ARTN, MYOM2, CD163, SH3BP5, CCL4L2, VEGFA, TYROBP, TSG101, TPI1, TOP1, TMPRSS2, TLR3, THBS1, STAU1, SIGLEC1, SFTPD, SDC1, CCL5, CCL4, PTPA, POMC, PRKN, SOCS1
    • Ebola Hemorrhagic Fever Orphanet
      Ebola hemorrhagic fever (EHF), caused by Ebola virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure. Epidemiology EHF is seen in Central and West Africa. EHF is generally recognized only when there are outbreaks, usually of less than 100 cases, which are almost invariably fueled by nosocomial transmission in hospitals in resource-poor areas where proper infection control practices are not maintained. However, seroprevalence studies suggest unrecognized endemic transmission in some areas of Africa. Clinical description After an incubation period of about 8 days (range 3-21 days), patients typically present with the abrupt onset of non-specific signs and symptoms including fever, malaise, headache, chest pain, and myalgia/arthralgia, followed rapidly by gastrointestinal symptoms (vomiting, diarrhea, abdominal pain) and, in some cases, a maculopapular skin rash. Severe cases develop bleeding (sub-conjunctival hemorrhage, epistaxis, bleeding from the mouth and rectum, oozing from venipuncture sites), neurologic involvement (disorientation, convulsions, coma), shock, and multi-organ system failure.
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