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Distal Muscular Dystrophy
Wikipedia
External links [ edit ] Classification D ICD - 10 : G71.0 ICD - 9-CM : 359.1 OMIM : 254130 604454 606768 MeSH : D049310 DiseasesDB : 31977 SNOMED CT : 58795000 External resources GeneReviews : Dysferlinopathy v t e Muscular dystrophy Types Congenital Dystrophinopathy Becker's Duchenne Distal Emery-Dreifuss Facioscapulohumeral Limb-girdle muscular dystrophy Calpainopathy Myotonic Oculopharyngeal National/International Organizations Muscular Dystrophy Association (USA) Muscular Dystrophy Canada Myotonic Dystrophy Foundation Muskelsvindfonden (Denmark) National/International Events MDA Muscle Walk (USA) Labor Day Telethon (defunct; USA/Canada) Décrypthon (France) Grøn Koncert (Denmark) Clinical trials Stamulumab (MYO-029) Category v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy v t e Cell membrane protein disorders (other than Cell surface receptor , enzymes , and cytoskeleton ) Arrestin Oguchi disease 1 Myelin Pelizaeus–Merzbacher disease Dejerine–Sottas disease Charcot–Marie–Tooth disease 1B, 2J Pulmonary surfactant Surfactant metabolism dysfunction 1, 2 Cell adhesion molecule IgSF CAM : OFC7 Cadherin : DSG1 Striate palmoplantar keratoderma 1 DSG2 Arrhythmogenic right ventricular dysplasia 10 DSG4 LAH1 DSC2 Arrhythmogenic right ventricular dysplasia 11 Integrin : cell surface receptor deficiencies Tetraspanin TSPAN7 X-Linked mental retardation 58 TSPAN12 Familial exudative vitreoretinopathy 5 Other KIND1 Kindler syndrome HFE HFE hereditary haemochromatosis DYSF Distal muscular dystrophy Limb-girdle muscular dystrophy 2B See also other cell membrane proteins This article about a disease of musculoskeletal and connective tissue is a stub .
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Rhinoscleroma
Wikipedia
External links [ edit ] Classification D ICD - 10 : A48.8 ICD - 9-CM : 040.1 MeSH : D012226 DiseasesDB : 31327 External resources MedlinePlus : 001256 eMedicine : derm/831 DiBartolomeo, Scleroma of the nose and pharynx. v t e Proteobacteria -associated Gram-negative bacterial infections α Rickettsiales Rickettsiaceae / ( Rickettsioses ) Typhus Rickettsia typhi Murine typhus Rickettsia prowazekii Epidemic typhus , Brill–Zinsser disease , Flying squirrel typhus Spotted fever Tick-borne Rickettsia rickettsii Rocky Mountain spotted fever Rickettsia conorii Boutonneuse fever Rickettsia japonica Japanese spotted fever Rickettsia sibirica North Asian tick typhus Rickettsia australis Queensland tick typhus Rickettsia honei Flinders Island spotted fever Rickettsia africae African tick bite fever Rickettsia parkeri American tick bite fever Rickettsia aeschlimannii Rickettsia aeschlimannii infection Mite-borne Rickettsia akari Rickettsialpox Orientia tsutsugamushi Scrub typhus Flea-borne Rickettsia felis Flea-borne spotted fever Anaplasmataceae Ehrlichiosis : Anaplasma phagocytophilum Human granulocytic anaplasmosis , Anaplasmosis Ehrlichia chaffeensis Human monocytotropic ehrlichiosis Ehrlichia ewingii Ehrlichiosis ewingii infection Rhizobiales Brucellaceae Brucella abortus Brucellosis Bartonellaceae Bartonellosis : Bartonella henselae Cat-scratch disease Bartonella quintana Trench fever Either B. henselae or B. quintana Bacillary angiomatosis Bartonella bacilliformis Carrion's disease , Verruga peruana β Neisseriales M+ Neisseria meningitidis/meningococcus Meningococcal disease , Waterhouse–Friderichsen syndrome , Meningococcal septicaemia M− Neisseria gonorrhoeae/gonococcus Gonorrhea ungrouped: Eikenella corrodens / Kingella kingae HACEK Chromobacterium violaceum Chromobacteriosis infection Burkholderiales Burkholderia pseudomallei Melioidosis Burkholderia mallei Glanders Burkholderia cepacia complex Bordetella pertussis / Bordetella parapertussis Pertussis γ Enterobacteriales ( OX− ) Lac+ Klebsiella pneumoniae Rhinoscleroma , Pneumonia Klebsiella granulomatis Granuloma inguinale Klebsiella oxytoca Escherichia coli : Enterotoxigenic Enteroinvasive Enterohemorrhagic O157:H7 O104:H4 Hemolytic-uremic syndrome Enterobacter aerogenes / Enterobacter cloacae Slow/weak Serratia marcescens Serratia infection Citrobacter koseri / Citrobacter freundii Lac− H2S+ Salmonella enterica Typhoid fever , Paratyphoid fever , Salmonellosis H2S− Shigella dysenteriae / sonnei / flexneri / boydii Shigellosis , Bacillary dysentery Proteus mirabilis / Proteus vulgaris Yersinia pestis Plague / Bubonic plague Yersinia enterocolitica Yersiniosis Yersinia pseudotuberculosis Far East scarlet-like fever Pasteurellales Haemophilus : H. influenzae Haemophilus meningitis Brazilian purpuric fever H. ducreyi Chancroid H. parainfluenzae HACEK Pasteurella multocida Pasteurellosis Actinobacillus Actinobacillosis Aggregatibacter actinomycetemcomitans HACEK Legionellales Legionella pneumophila / Legionella longbeachae Legionnaires' disease Coxiella burnetii Q fever Thiotrichales Francisella tularensis Tularemia Vibrionaceae Vibrio cholerae Cholera Vibrio vulnificus Vibrio parahaemolyticus Vibrio alginolyticus Plesiomonas shigelloides Pseudomonadales Pseudomonas aeruginosa Pseudomonas infection Moraxella catarrhalis Acinetobacter baumannii Xanthomonadaceae Stenotrophomonas maltophilia Cardiobacteriaceae Cardiobacterium hominis HACEK Aeromonadales Aeromonas hydrophila / Aeromonas veronii Aeromonas infection ε Campylobacterales Campylobacter jejuni Campylobacteriosis , Guillain–Barré syndrome Helicobacter pylori Peptic ulcer , MALT lymphoma , Gastric cancer Helicobacter cinaedi Helicobacter cellulitis
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Sox2 Disorder
Gene_reviews
As these features can be present in children without severe structural eye defects [Zenteno et al 2006, Dennert et al 2017], they are not restricted to individuals with the full AEG syndrome [Williamson et al 2006]. Additionally, feeding difficulty or gastroesophageal reflux was observed in multiple individuals. ... The extraocular features of SOX2 disorder, including AEG syndrome and dystonia, presented with the common p.Asn24ArgfsTer65 variant, but were absent from the two families with the p.Asp123Gly variant. ... Anophthalmia-esophageal atresia-genital abnormalities (AEG) syndrome was previously reported to be a distinct disorder, but is now known to be associated in some individuals with heterozygous pathogenic loss-of-function variants in SOX2 [Williamson et al 2006, Zenteno et al 2006]; thus, it appears that esophageal atresia with or without tracheoesophageal fistula is a feature of SOX2 disorder and not a separate condition. ... Genes of Interest in the Differential Diagnosis of SOX2 Disorder View in own window Gene Disorder MOI Ocular Phenotype Other Clinical Features Comment ALDH1A3 Isolated microphthalmia 8 (OMIM 615113) AR Bilateral microphthalmia &/or anophthalmia DD or autism in ~20% of affected persons BMP4 Syndromic microphthalmia 6 (OMIM 607932) AD Bilateral anophthalmia, optic disc aplasia/hypoplasia Small kidneys/renal cyst, small ears Comorbidities present in 2 families 1 GJA8 Cataract 1 (OMIM 116200) AD Bilateral microphthalmia, coloboma, cataract 2 None NAA10 Lenz microphthalmia syndrome (OMIM 309800) XL Unilateral or bilateral microphthalmia &/or anophthalmia Malformations of the ears, teeth, fingers, skeleton, or genitourinary system Mild-to-severe ID or DD in ~60% of affected males Polyadenylation signal variants are assoc w/familial anophthalmia. 3 OTX2 OTX2 anophthalmia syndrome (MCOPS5) (OMIM 610125) AD Ocular features almost identical to those frequently observed in SOX2 disorder 4 Brain features almost identical to those of SOX2 disorder 4 Esophageal atresia/tracheo-esophageal fistula & dystonia are not assoc w/ OTX2 pathogenic variants. ... AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; ID = intellectual disability; MCOPS5 = microphthalmia, syndromic 5; MOI = mode of inheritance; XL = X-linked 1.
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Primary Coenzyme Q10 Deficiency
Gene_reviews
HCM = hypertrophic cardiomyopathy; ID = intellectual disability; SNHL = sensorineural hearing loss; SRNS = steroid-resistant nephrotic syndrome 1. Encephalopathy comprises a wide spectrum of brain involvement with different clinical and neuroradiologic features, often not further explicated by the reporting authors. 2. ... Traditionally, clinical presentations have been classified into five distinct phenotypes: encephalomyopathy, cerebellar ataxia, severe infantile multisystem disease, steroid-resistant nephrotic syndrome, and isolated myopathy [Emmanuele et al 2012]. ... In some individuals encephalopathy is associated with findings on neuroimaging resembling Leigh syndrome [López et al 2006] or MELAS (with stroke-like episodes) [Salviati et al 2005]. ... Renal. Steroid-resistant nephrotic syndrome (SRNS), an unusual feature of mitochondrial disorders, is a hallmark of primary CoQ 10 deficiency. ... The clinical manifestations of mitochondrial encephalomyopathies and primary coenzyme Q 10 deficiency can often be indistinguishable, especially in the severe phenotypes. Steroid-resistant nephrotic syndrome (SRNS) that results from mutation of other genes important for podocyte function (including DGKE , LAMB2 , NPHS1 , NPHS2 , PLCE1 , PTPRO , and WT1 ); clinically indistinguishable from the SRNS resulting from primary CoQ 10 deficiency (See WT1 Disorder.)
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Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
Gene_reviews
Severe and persistent anemia resembling that of Diamond-Blackfan syndrome is seen in about 6% [Williams et al 2005]. ... When Hirschsprung disease has been excluded, malabsorption secondary to gastrointestinal infections can occur in the first two years of life [Mäkitie et al 1995]. The main findings are "celiac syndrome" with diarrhea and failure to thrive. ... AD AR XL Immunodeficiency In most immunodeficiency syndromes: no skeletal abnormalities Omenn syndrome (OMIM 603554) RAG1 RAG2 DCLRE1C AR Short stature Hematologic changes Immunologic changes Omenn syndrome is more severe & incls: Ichthyosiform skin changes Septicemia Isolated congenital neutropenia (See ELANE -Related Neutropenia.) ... AD AR XL Congenital neutropenia Skeletal phenotype in CHH Syndromic congenital neutropenia 7 (See WAS -Related Disorders, G6PC3 Deficiency.) ... Congenital neutropenia that occurs as part of a syndrome can be caused by pathogenic variants affecting glucose metabolism or lysosomal function. 8.
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Adrenoleukodystrophy
Omim
He could dress himself but often put garments on backward or inside out. He later developed Balint syndrome and dementia. (Balint syndrome is an acquired visuospatial disorder characterized by psychic paralysis of visual fixation, optic ataxia, and disturbance of visual attention with relatively intact vision (Hecaen and De Ajuriaguerra, 1954).) ... The postperfusion syndrome is an uncommon event following open-heart surgery with extracorporeal circulation. ... Luciani et al. (1997) observed the syndrome in an 18-year-old man who underwent transpulmonary patch repair of a ventricular septal defect with cardiopulmonary bypass for 50 minutes. ... The patient reported by Noetzel et al. (1987) illustrates further the occurrence of a chronic nonprogressive spinal cord syndrome in women heterozygous for ALD. ... Inheritance Fanconi et al. (1963) suggested X-linked recessive inheritance of a syndrome of Addison disease and cerebral sclerosis.ABCD1, IFNG, SOD2, PEX13, HMOX1, PEX26, PEX1, CYP2E1, ABCD2, TNF, ABCB6, TLR4, ABCG2, ABCD3, PNPLA3, AMN, CD14, SLC27A2, ACSBG1, IL10, IL1B, IL6, HAMP, TGFB1, TM6SF2, NFE2L2, AKR1B1P2, STAT3, ELOVL1, ACTB, ALDH2, HFE, AKR1A1, ABCA4, GABPA, GPT, BCL2, SIRT1, MIR122, MOG, SPP1, ST8SIA4, CTNNB1, ADH1C, GLB1, ST14, HMGB1, IL22, GSTM1, ELANE, GSTP1, MFAP1, NR1H4, APRT, CCR2, PRKAA1, MIR34A, IGF1, ABCD4, GSTK1, ANXA2, BCAP31, SLCO6A1, IL33, POMC, POTEF, LBP, PPARA, HSD17B4, IL1A, COX8A, CD34, SOCS3, CHST3, PCSK7, NR1I3, CLOCK, GRAP2, EIF2AK3, ZEB2, NAT2, NOL3, WASF1, ST2, STIM1, TAC1, TCF4, TCF7L2, TFRC, TJP1, TLR2, TLR3, TPO, TTR, UBE2I, UCHL1, UCP2, VDR, VLDLR, XBP1, AIMP2, CYP4F2, ABCB11, BECN1, MBTPS1, SQSTM1, EIF2B2, ENDOU, TRPV1, TREX1, AKT3, HSD17B13, DEPTOR, MBOAT7, GRHL2, TET1, ACSBG2, DGAT2, GGTLC1, IL17F, EXOSC6, RBM45, PCSK9, STON1-GTF2A1L, MIR155, PPIF, MIR200A, MIR212, POU5F1P3, POU5F1P4, GGTLC5P, GGTLC3, GGT2, GGTLC4P, PBC2, LOC102723407, LOC102724197, CBSL, SPHK2, PIWIL2, UGT1A1, SIRT6, NAMPT, PLIN3, ACAA2, ATG7, AHSA1, KHDRBS1, SLC27A5, GTF2A1L, STON1, SCAP, LPIN1, NUP62, RNF19A, CHMP2B, POLDIP2, RNU1-1, HPGDS, IGHV3OR16-7, IGHV3-69-1, SNX10, IL19, SLC40A1, NOX4, DCTN4, PIPOX, SPINK1, PRKAA2, SNCA, DLAT, CHI3L1, CHIT1, ERCC8, CLTC, ABCC2, CNR1, CRK, MAPK14, CSH1, CSH2, NCAN, CYP2B6, CYP21A2, DMPK, GSTA1, DMRT1, DNASE1, ATN1, FBL, FOXO3, MTOR, NR5A1, FUT1, G6PD, MSTN, GGT1, GJB1, GLUL, CFTR, CES1, CD44, CD19, ABR, ACAA1, ADH1B, ADH5, AFM, AKT1, ALB, AKR1B1, ALOX15, AMCN, FAS, AQP2, ARRB2, ATF4, AVP, BAX, BCHE, C5, C5AR1, CASP1, CASP3, CASP8, CBS, CD1A, CD1B, CD1C, CD1D, GSK3B, GSTT1, SLC6A8, MAPK1, PDE4A, PEX6, PHYH, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PMP22, POU5F1, PPARD, PPARG, PPID, PRKAB1, MAPK3, GTF2H1, MAPK8, PRSS1, RASGRF2, RHEB, BRD2, ROS1, S100A4, S100A10, CCL2, CCL22, SRSF4, SGCA, SLC4A1, PCNA, SERPINE1, NVL, NTF3, HADHB, HADH, HIF1A, HLA-DRB1, HSD11B1, HSPA5, HSPA9, HSPD1, HSPG2, IFNB1, IGH, IL1RN, IL4, IL12B, IL17A, IRF3, KDR, KRT18, L1CAM, LAMP1, LAMP2, LRP6, MAG, MBP, MYD88, GADD45B, SLC11A2, LOC102724971
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Hypopituitarism
Wikipedia
For instance, growth hormone deficiency is associated with obesity, raised cholesterol and the metabolic syndrome , and estradiol deficiency may lead to osteoporosis. ... Vascular As a pregnancy comes to term , a pregnant woman's pituitary gland is vulnerable to low blood pressure , such as may result from hemorrhage ; pituitary damage due to bleeding after childbirth is called Sheehan's syndrome . Pituitary apoplexy is hemorrhage or infarction (loss of blood supply) of the pituitary. ... Forms of combined pituitary hormone deficiency ("CPHD") include: Type OMIM Gene CPHD1 613038 POU1F1 CPHD2 262600 PROP1 CPHD3 600577 LHX3 CPHD4 602146 LHX4 CPHD5 ( Septo-optic dysplasia ) 182230 HESX1 Kallmann syndrome causes deficiency of the gonadotropins only. Bardet–Biedl syndrome and Prader–Willi syndrome have been associated with pituitary hormone deficiencies. ... External links [ edit ] Classification D ICD - 10 : E23.0 , E89.3 ICD - 9-CM : 253.7 , 253.2 MeSH : D007018 DiseasesDB : 6522 External resources MedlinePlus : 000343 eMedicine : emerg/277 med/1137 ped/1130 Patient UK : Hypopituitarism Hypopituitarism at Curlie Pituitary Network Association v t e Pituitary disease Hyperpituitarism Anterior Acromegaly Hyperprolactinaemia Pituitary ACTH hypersecretion Posterior SIADH General Nelson's syndrome Hypophysitis Hypopituitarism Anterior Kallmann syndrome Growth hormone deficiency Hypoprolactinemia ACTH deficiency / Secondary adrenal insufficiency GnRH insensitivity FSH insensitivity LH/hCG insensitivity Posterior Neurogenic diabetes insipidus General Empty sella syndrome Pituitary apoplexy Sheehan's syndrome Lymphocytic hypophysitis Pituitary adenomaLHX4, FOXA2, PRL, CYP17A1, CYP19A1, HESX1, PROP1, LHX3, SMPD3, CSHL1, KISS1R, NR5A1, KISS1, GHRH, TACR3, GLI2, GNRH1, GNRHR, GPC1, SOX3, ALX3, GH1, MAGEL2, ZSWIM6, APOA5, SOX2, POU1F1, POMC, PROKR2, IGF1, SLC20A1, CTNNB1, SST, HTC2, OTX2, AR, AVP, PROK2, SRY, EIF2S3, ECE2, ARNT2, CDON, CDK4, PACC1, CHD7, SHOC2, BMP2, RSS, SBE2, FLNA, L1CAM, GAS1, ACSM3, NFKB2, NONO, PAX6, APOE, ANOS1, IGSF1, SIM1, GHRHR, SIX3, SMS, SOD1, GPT, SSRP1, LAMB2, EEF1AKMT4-ECE2
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Eating Disorder
Wikipedia
Nocturnal sleep-related eating disorder , which is a parasomnia characterized by eating, habitually out-of-control, while in a state of NREM sleep, with no memory of this the next morning. Gourmand syndrome , a rare condition occurring after damage to the frontal lobe. Individuals develop an obsessive focus on fine foods. [21] Orthorexia nervosa , a term used by Steven Bratman to describie an obsession with a "pure" diet, in which a person develops an obsession with avoiding unhealthy foods to the point where it interferes with the person's life. [22] Klüver-Bucy syndrome , caused by bilateral lesions of the medial temporal lobe, includes compulsive eating, hypersexuality, hyperorality, visual agnosia, and docility. Prader-Willi syndrome , a genetic disorder associated with insatiable appetite and morbid obesity. ... As such, individuals who induce vomiting as part of their eating disorder, such as those with anorexia nervosa, binge eating-purging type or those with purging-type bulimia nervosa, are at risk for acid reflux. [ medical citation needed ] Polycystic ovary syndrome (PCOS) is the most common endocrine disorder to affect women. ... It has been documented that some people with celiac disease, irritable bowel syndrome or inflammatory bowel disease who are not conscious about the importance of strictly following their diet, choose to consume their trigger foods to promote weight loss.UTS2, FXR1, SOX2-OT, SLC6A4, ATP8A2, ABCG1, FLNB, BDNF, RASGRF2, MCL1, OPN1SW, SCLY, TAL1, KRT7, COMT, LEP, HTR2A, BED, GPCPD1, DRD2, NR3C1, NTRK2, OXTR, MC4R, FTO, HDAC4, WASF2, HTR2C, DRD4, NPY, CRH, WASF3, CRHR1, HTR1D, SNCA, GHRL, GHSR, SLC6A3, LINC02210-CRHR1, TPH2, GH1, WASF1, YY1, TCF3, POTEM, BEST1, TNF, ELOC, ERICD, FHL5, BAS, VGF, USP9X, DYRK3, TNFRSF1B, KHSRP, THAS, CARTPT, BAG3, MBOAT4, EBPL, SPX, OR2AG1, C9orf72, NEGR1, RXFP3, DLL1, ACTBL2, PCSK1N, SIGLEC7, ACOT7, SMIM20, PSIP1, RLN3, CLOCK, POTEKP, BDNF-AS, PART1, SERPINA3, SHBG, DMD, GRIK3, GLP1R, GHRH, GCG, GAD1, GABBR1, ESRRA, ESR1, ELK3, EIF4EBP1, DPP4, DLX4, PSMB6, DBT, CYP2D6, CUX1, CRHR2, CNTFR, CNTF, CNR2, CCKAR, ARSD, AGRP, ACTG2, HCLS1, HCRT, HMOX1, HTR1B, PRL, PPARA, OPRD1, NTS, NTRK3, ACTG1, NTRK1, NRAS, NPY5R, NNAT, NHS, NGF, MOS, MMP9, NR3C2, IL6, IL2RB, IL2, IL1B, IK, IGFBP2, IGF2, IGF1, LOC110806262
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Kleptomania
Wikipedia
External links [ edit ] Classification D ICD - 10 : F63.2 ICD - 9-CM : 312.32 MeSH : D007174 SNOMED CT : 69361009 Media related to Kleptomania at Wikimedia Commons v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation Stereotypy
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Plantar Fasciitis
Wikipedia
Connective tissue disorder of the heel Plantar fasciitis Other names Plantar fasciosis, plantar fasciopathy, jogger's heel, heel spur syndrome [1] Most common areas of pain in plantar fasciitis Specialty Orthopedics , sports medicine , plastic surgery , podiatry Symptoms Pain in the heel and bottom of the foot [2] Usual onset Gradual [3] Causes Unclear [2] Risk factors Overuse (long periods of standing), obesity , inward rolling of the foot [2] [4] Diagnostic method Based on symptoms, ultrasound [2] Differential diagnosis Osteoarthritis , ankylosing spondylitis , heel pad syndrome , reactive arthritis [5] [6] Treatment Conservative management [4] [7] Frequency ~4% [2] [5] Plantar fasciitis is a disorder of the connective tissue which supports the arch of the foot . [2] It results in pain in the heel and bottom of the foot that is usually most severe with the first steps of the day or following a period of rest. [2] [4] Pain is also frequently brought on by bending the foot and toes up towards the shin . [3] [4] The pain typically comes on gradually, and it affects both feet in about one-third of cases. [2] [3] The cause of plantar fasciitis is not entirely clear. [2] Risk factors include overuse, such as from long periods of standing, an increase in exercise , and obesity . [2] [4] It is also associated with inward rolling of the foot , a tight Achilles tendon , and a sedentary lifestyle. [2] [4] It is unclear if heel spurs have a role in causing plantar fasciitis even though they are commonly present in people who have the condition. [2] Plantar fasciitis is a disorder of the insertion site of the ligament on the bone characterized by micro tears, breakdown of collagen, and scarring. [2] Since inflammation plays either a lesser or no role, a review proposed it be renamed plantar fasciosis . [2] [8] The presentation of the symptoms is generally the basis for diagnosis; with ultrasound sometimes being useful if there is uncertainty. [2] Other conditions with similar symptoms include osteoarthritis , ankylosing spondylitis , heel pad syndrome , and reactive arthritis . [5] [6] Most cases of plantar fasciitis resolve with time and conservative methods of treatment. [4] [7] For the first few weeks, those affected are usually advised to rest, change their activities, take pain medications , and stretch. [4] If this is not sufficient, physiotherapy , orthotics , splinting , or steroid injections may be options. [4] If these measures are not effective, additional measures may include extracorporeal shockwave therapy or surgery. [4] Between 4% and 7% of the general population has heel pain at any given time: about 80% of these are due to plantar fasciitis. [2] [5] Approximately 10% of people have the disorder at some point during their life. [9] It becomes more common with age. [2] It is unclear if one sex is more affected than the other. [2] Contents 1 Signs and symptoms 2 Risk factors 3 Pathophysiology 4 Diagnosis 4.1 Imaging 4.2 Differential diagnosis 5 Treatment 5.1 Non-surgical 5.2 Surgery 5.3 Unproven treatments 6 Epidemiology 7 References 8 External links Signs and symptoms [ edit ] When plantar fasciitis occurs, the pain is typically sharp [10] and usually unilateral (70% of cases). [7] Bearing weight on the heel after long periods of rest worsens heel pain in affected individuals. [11] Individuals with plantar fasciitis often report their symptoms are most intense during their first steps after getting out of bed or after prolonged periods of sitting. [4] Symptoms typically improve with continued walking. [4] [6] [10] Rare, but reported symptoms include numbness , tingling , swelling , or radiating pain. [12] Typically there are no fevers or night sweats. [3] If the plantar fascia is overused in the setting of plantar fasciitis, the plantar fascia can rupture. ... Furthermore, a 3-phase bone scan can be used to monitor response to therapy, as demonstrated by decreased uptake after corticosteroid injections. [22] Differential diagnosis [ edit ] The differential diagnosis for heel pain is extensive and includes pathological entities including, but not limited to, the following: calcaneal stress fracture , calcaneal bursitis , osteoarthritis , spinal stenosis involving the nerve roots of lumbar spinal nerve 5 (L5) or sacral spinal nerve 1 (S1) , calcaneal fat pad syndrome, hypothyroidism , seronegative spondyloparthopathies such as reactive arthritis , ankylosing spondylitis , or rheumatoid arthritis (more likely if pain is present in both heels), [5] plantar fascia rupture, and compression neuropathies such as tarsal tunnel syndrome or impingement of the medial calcaneal nerve . [3] [5] [7] A determination about a diagnosis of plantar fasciitis can usually be made based on a person's medical history and physical examination. [23] When a physician suspects a fracture, infection, or some other serious underlying condition, they may order an X-ray to investigate. [23] X-rays are unnecessary to screen for plantar fasciitis for people who stand or walk a lot at work unless imaging is otherwise indicated. [23] Treatment [ edit ] Non-surgical [ edit ] A pair of insoles inside shoes may be tried [24] About 90% of plantar fasciitis cases improve within six months with conservative treatment, [9] and within a year regardless of treatment. [4] [7] Affected people use many treatments for plantar fasciitis. ... Classification D ICD - 10 : M72.2 ICD - 9-CM : 728.71 MeSH : D036981 DiseasesDB : 10114 External resources MedlinePlus : 007021 eMedicine : pmr/107 orthoped/142 Patient UK : Plantar fasciitis 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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Hyperlipidemia
Wikipedia
Familial combined hyperlipoproteinemia (FCH) Lysosomal acid lipase deficiency , often called ( Cholesteryl ester storage disease ) Secondary combined hyperlipoproteinemia (usually in the context of metabolic syndrome , for which it is a diagnostic criterion) Type III [ edit ] This form is due to high chylomicrons and IDL (intermediate density lipoprotein). ... FCH is extremely common in people who suffer from other diseases from the metabolic syndrome ("syndrome X", incorporating diabetes mellitus type II, hypertension, central obesity and CH). ... Unclassified familial forms [ edit ] These unclassified forms are extremely rare: Hyperalphalipoproteinemia Polygenic hypercholesterolemia Acquired (secondary) [ edit ] Acquired hyperlipidemias (also called secondary dyslipoproteinemias) often mimic primary forms of hyperlipidemia and can have similar consequences. [11] They may result in increased risk of premature atherosclerosis or, when associated with marked hypertriglyceridemia , may lead to pancreatitis and other complications of the chylomicronemia syndrome . [11] The most common causes of acquired hyperlipidemia are: Diabetes mellitus [11] Use of drugs such as thiazide diuretics , [11] beta blockers , [11] and estrogens [11] Other conditions leading to acquired hyperlipidemia include: Hypothyroidism [11] Kidney failure [11] Nephrotic syndrome [11] Alcohol consumption [11] Some rare endocrine disorders [11] and metabolic disorders [11] Treatment of the underlying condition, when possible, or discontinuation of the offending drugs usually leads to an improvement in the hyperlipidemia. ... In a fasting lipid panel, a LDL greater than 160 mg/dL is abnormal. [28] [29] HDL Cholesterol [ edit ] HDL, also known as "good cholesterol", is associated with decreased risk of cardiovascular disease. [31] HDL cholesterol carries cholesterol from other parts of your body back to your liver and then removes the cholesterol from the body. [33] It can be affected by acquired or genetic factors, including tobacco use, obesity , inactivity, hypertriglyceridemia, diabetes , high carbohydrate diet, medication side effects ( beta-blockers , androgenic steroids, corticosteroids, progestogens, thiazide diuretics, retinoic acid derivatives, oral estrogens, etc.) and genetic abnormalities (mutations ApoA-I, LCAT, ABC1). [28] Low level is defined as less than 40 mg/dL. [29] [34] Triglycerides [ edit ] Triglyceride level is an independent risk factor for cardiovascular disease and/or metabolic syndrome . [28] Food intake prior to testing may cause elevated levels, up to 20%. ... External links [ edit ] Classification D ICD - 10 : E78 ICD - 9-CM : 272.0 - 272.4 MeSH : D006949 DiseasesDB : 6255 External resources Patient UK : Hyperlipidemia 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 amyloidosisLPL, APOE, NOS3, LDLR, APOB, LIPC, CETP, PPARA, GCG, ALB, LEPR, ADRB3, APC, ABCG5, ADRB2, IRS1, NEIL1, LMX1B, PPARGC1B, MTTP, ADIPOQ, LEP, ABCA1, CRP, VCAM1, LCAT, CYP2E1, GFPT1, HSD11B1, SERPINF2, SDC1, SHC1, ABCB1, SMARCD1, F7, SLC27A1, TGFB1, PCSK9, SERPINC1, RGN, KL, APOC3, APOBEC1, ABCG8, GLA, PPARG, HMBS, LMNA, MYO5A, SLC37A4, NPHS1, CYP19A1, GYS2, CFH, CFHR1, G6PC, TFG, ADCY3, ZMPSTE24, LDLRAP1, DGAT1, NPHS2, AGL, DCAF17, CFHR3, TNF, ACTN4, RAB27A, PYGL, IL6, CAD, APOA5, APOA1, GPT, CD36, APOC1, EHMT1, COPD, IL1B, CAT, SLCO1B1, LPA, PRKAA1, TLR4, MFAP1, APRT, CHDH, CNBP, PRKAA2, HMGCR, SREBF2, GLP1R, SOD1, SLC2A4, SIRT3, ZGLP1, PRKAB1, PON1, MPO, NPC1L1, HP, FGF21, CCL2, SORT1, VEGFA, ANGPTL3, LIPA, ACE, USF1, ASRGL1, NR1H3, MIR27B, MMP9, TLR2, AKT1, ACHE, NFE2L2, CHPT1, SOAT1, BCL2A1, SREBF1, CCR5, NAMPT, TDGF1P3, JPH3, SI, IL1A, CCL5, MMP2, AGT, ADM, CPT1A, CPT2, MTHFR, HAMP, SLC5A2, JAK2, SELP, MAPK1, ACAT1, ADA, ST3GAL4, HIF1A, DNAJB9, MIR33A, CCR2, DVL2, PLG, MGAM, SERPINE1, ARSA, APOC2, FASN, ESR1, ERN1, NR1H4, MIR30C2, MIR30C1, FDFT1, MIR29A, NR1I2, VLDLR, MIR21, C5AR2, ELF3, SLC17A5, MIR143, LINC01672, GH1, RETN, CYP27A1, MIR126, CYP7A1, PLA2G1B, SLC40A1, SIRT1, AMY2A, KDM4B, PADI4, PDSS1, TOX3, RNF19A, ATRNL1, PDLIM3, POLDIP2, GPR162, DISC1, ALPP, E2F1, AHSA1, KLRK1, SLC4A7, MVP, RBM8A, RAPGEF5, HDAC4, GREB1, AKAP12, GRAP2, APOA4, AQP7, XPR1, PCSK7, LATS1, AR, ZPR1, FAM13A, TLR6, ZHX2, CCL27, INPP5F, ADAMTS7, WDHD1, ABHD2, SLC27A4, ANPEP, PLK4, APOA2, NFAT5, TXNIP, APOF, ANGPTL4, TXNRD2, MICU1, MLXIPL, SEMA6A, TNFRSF12A, NLRP3, MIR130B, MIR10A, MIR107, SERPINA13P, NANOS3, GOLGA6A, CPP, GPIHBP1, LAMA1, ACAT2, FNDC5, IL27, THSD7A, PHACTR1, PAOX, KLB, PLB1, MIR132, MIR145, MIR155, GGTLC5P, FOXO6, ACADSB, CDKN2B-AS1, PSS, GGTLC4P, GGT2, GGTLC3, MIR486-1, MIR204, MIR424, MIR34A, MIR24-1, MIR223, MIR222, MIR214, MIR210, ACLY, SLC52A3, ACSL5, HELZ2, MARK4, TNFSF14, KIDINS220, AS3MT, FAM20C, MYDGF, APOM, ANGPTL8, ALOX5, NAT10, RCBTB1, TUG1, DYM, SMOX, TREM1, HDL3, IL17D, MID1IP1, GAS5, NOD2, LPAL2, DOCK7, ATAD1, MFSD2A, BUD13, DGAT2, IL1F10, FSD1L, PNPLA3, AKR1B1, DHX40, AHR, CDC73, FSD1, WNK4, CDCP1, FNDC4, DLK1, BCHE, TNFRSF25, MAPK14, CTNNB1, RPSA, LAD1, ITGB2, CX3CR1, IRF6, IL18, IL17A, IL10, CYBB, CYP1A1, IGFALS, IGF1, ID2, HSPG2, HSPA4, CYP2B6, LCN2, CRYGD, S1PR4, CRK, MYO1F, MT1B, MMP14, MMP8, MMP3, NR3C2, CNR1, RAB8A, TM4SF1, LYZ, LRP5, LRP6, LRP1, COL4A2, CP, CPE, LGALS3, HNF4A, NR4A1, HMOX1, CYP2C19, FGFR1, FCN1, FCGR3B, FCGR3A, FAT1, PTK2B, ACSL3, FABP2, FABP1, F5, F3, F2, ESRRA, ESR2, EPO, EPHB2, EGFR, FGL1, FOXO1, FN1, GLB1, CYP2C9, HLA-B, CYP2D6, HFE, CYP3A51P, SERPIND1, GSR, DDIT3, HBEGF, GGT1, DECR1, DEFA3, GAS6, GALNT2, DLD, G6PD, LTB4R, MTR, MYLK, PTPRA, SOD2, CASP1, FSCN1, RUNX2, SLPI, CBS, KYAT1, SDC2, CD1B, SAA3P, SAA1, RPL10, ROCK1, REN, RARRES2, RAF1, CD1C, C3, STAR, TRBV20OR9-2, LRP8, ARNTL, HAT1, SOAT2, PLA2G10, FZD4, AIMP2, PLA2G7, ATF4, TGM2, YWHAZ, ATHS, UCP1, TRH, BAX, CLDN5, EDA, CD38, PTGS2, CCR7, PTGS1, PIK3C2G, CEL, PDE3B, PDB1, PCOS1, SERPINB2, PAEP, OSM, TNFRSF11B, OLR1, OGN, NT5E, CES1, CCN3, NNMT, NEDD4, NCF2, PIK3CA, PIK3CB, PIK3CD, PPBP, PTH, PTEN, PROP1, PROC, CD40, CD40LG, CD44, CD68, PIK3CG, CDH13, ACACA, PLXNA1, CEBPA, PLEK, PLA2G2A, PIK3R1, KLRC4-KLRK1
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Cryptorchidism
Wikipedia
Cryptorchidism, hypospadias , testicular cancer , and poor semen quality make up the syndrome known as testicular dysgenesis syndrome . ... The Mayo Clinic lists "parents' exposure to some pesticides" as a known risk factor. [7] [8] Risk factors may include exposure to regular alcohol consumption during pregnancy (five or more drinks per week, associated with a three-fold increase in cryptorchidism, when compared to nondrinking mothers. [9] Cigarette smoking is also a known risk factor. [7] Family history of undescended testicles or other problems of genital development [7] Cryptorchidism occurs at a much higher rate in a large number of congenital malformation syndromes . Among the more common are Down syndrome , [7] Prader–Willi syndrome , and Noonan syndrome . ... The presence of a uterus by pelvic ultrasound suggests either persistent Müllerian duct syndrome (AMH deficiency or insensitivity) or a severely virilized genetic female with congenital adrenal hyperplasia . ... "Diagnostic usefulness of and clinical syndromes associated with reproductive hormones". ... Kidshealth.org: Cryptorchidism Classification D ICD - 10 : Q53 ICD - 9-CM : 752.5 OMIM : 219050 MeSH : D003456 DiseasesDB : 3218 External resources MedlinePlus : 000973 eMedicine : med/2707 radio/201 ped/3080 v t e Male congenital anomalies of the genitalia, including Intersex and DSD Internal Testicle Cryptorchidism Polyorchidism Monorchism Anorchia Sertoli cell-only syndrome True hermaphroditism Mixed gonadal dysgenesis Swyer syndrome Vas deferens Congenital absence of the vas deferens Other Persistent Müllerian duct syndrome External Penis Hypospadias Epispadias Chordee Micropenis Penile agenesis Diphallia Penoscrotal transposition Other PseudohermaphroditismINSL3, RXFP2, CASP3, ATRX, CBL, CHRM3, HSD3B2, STS, PUM1, BCL2L1, GPX4, ESR1, HSF1, GFER, KDM5A, SYNE2, MSX1, HTRA2, ANXA5, FAS, AR, IGF1R, AMH, NR5A1, FGFR1, DAZ1, SRY, CYP19A1, RAF1, PTPN11, AMHR2, HOXD13, WT1, FGF8, OPHN1, TACR3, TAC3, ARNT2, PROKR2, OCRL, STAR, CHD7, CYP17A1, CYP11A1, GNRHR, SOS1, KISS1R, EBP, GATA4, RBMY1A1, FLNA, ANOS1, MECP2, EED, ACTB, NR0B1, PWAR1, SEC24C, OGT, ORC6, PEX3, NPAP1, FLRT3, RAB3GAP2, NIPBL, LMOD1, ATP6V0A2, RTTN, SIN3A, C2CD3, NSMF, CNTNAP2, PIGN, NNT, IFT172, TP63, SZT2, PTCH2, SYNE1, SMCHD1, SPECC1L, MED13L, ADNP, KAT6B, ZFPM2, KCNAB2, GRIP1, GPR161, TGDS, SUZ12, AUTS2, CUL4B, PHGDH, WDPCP, POMT2, SLC25A24, DHH, CDON, TBX22, GMNN, POLR1D, RPGRIP1L, KDM5C, KMT5B, RLIM, CCDC174, TMEM216, DACT1, GMPPB, ANKRD11, UBE2T, SETD2, CCDC22, BBS9, AFF4, ACTA1, B9D1, TBL2, TINF2, NAA10, HIBCH, USP9Y, ARID1A, TRRAP, CDC45, NEDD4L, DDX3Y, SEMA3E, APC2, HUWE1, GPC6, MKRN3-AS1, CD96, IRX5, STAG1, RXYLT1, LARGE1, SMC3, BAZ1B, CITED2, SEMA3A, EMG1, MAD2L2, HACD1, MAMLD1, PACS2, PEX16, GTF2IRD1, TMEM94, PTDSS1, LRIG2, FIG4, POLR1C, MED12, TRIP4, RECQL4, HS6ST1, SRA1, COG1, NRXN1, LONP1, COG5, SEC23A, POMT1, TRIM32, B4GALT7, MRAS, CILK1, RAB3GAP1, SGPL1, RAB18, PHF8, TXNRD2, KDM6B, ANKLE2, FGF17, SLC35D1, HESX1, PEX11B, POLR3A, AP1S2, BCL10, B4GAT1, IFT27, KCNQ1OT1, MAPRE2, HERC2, CLP1, PNPLA6, MBTPS2, SDCCAG8, GJB6, KDM5B, DLL3, BRSK2, CTCF, CPLX1, ABL1, DYNC2LI1, OTUD6B, TMEM67, ATPAF2, ALKBH8, BBIP1, G6PC3, CHST14, TOE1, TTC8, TBC1D20, DIS3L2, BBS5, DNAJC19, EVC2, DNAJC21, RIPPLY2, MPLKIP, NKX2-6, WDR34, LHX4, POMGNT2, PLVAP, FUZ, KLHL15, B9D2, CDT1, VANGL1, SPRY4, LAS1L, CDCA7, HES7, BRIP1, ARL6, POMK, PHF6, UQCC2, TMEM107, SLX4, GATA5, A2ML1, B3GLCT, FREM2, NALCN, H19, KANSL1, CCDC141, DOK7, SNORD115-1, RSPO2, KIF7, EBF3, FEZF1, MYMK, GTF2H5, CRPPA, PWRN1, SNORD116-1, RNU4ATAC, BRWD3, STAC3, GSC, VPS13B, MESP2, CCBE1, B3GALNT2, CKAP2L, CEP120, ESCO2, C8orf37, BBS12, PHACTR1, ARX, ARID2, UBR1, STT3B, TUBB, HYLS1, JMJD1C, CEP290, FRAS1, DHDDS, PACS1, CEP55, SETD5, ATAD3A, BBS7, FANCI, POMGNT1, PEX26, VAC14, FANCL, POLR3B, WDR11, MBD5, MCTP2, HDAC8, ASH1L, KMT2E, RFWD3, WDR60, DAZ3, MAGEL2, SUFU, RAB23, WWOX, MAP3K20, FGFRL1, RIN2, TMCO1, LZTFL1, PHIP, IL17RD, SAMD9, BCOR, NSUN2, MKS1, TMEM70, LZTR1, MRAP, DAZ2, TCTN2, THOC6, MTMR14, PORCN, COLEC11, ALG8, FTO, ALG12, FKRP, TMEM231, LMBR1, FAT4, DYNC2H1, TBL1XR1, PALB2, BBS10, EHMT1, CSPP1, NXN, NSD1, HYMAI, ZSWIM6, RPGRIP1, DAZ4, SELENON, ARID1B, WDR35, CC2D2A, IFT80, FANCM, STRA6, DMRT3, HPSE2, ALX4, PROK2, PIEZO2, PRDM16, SMOC1, RBM10, SMC1A, MKKS, GLI1, GATA6, GDF1, GJA5, GJB2, GPC3, GLE1, GLI2, GABRD, GLI3, GNRH1, GP1BB, GRIA3, GTF2E2, GTF2I, GATA1, FZD2, FANCC, GPC4, FANCE, FANCB, FANCF, FANCG, FBN1, FKTN, FGD1, MTOR, FGF14, FGFR3, FGFR2, FLI1, FLNB, FMR1, HBA1, HBA2, HNRNPK, KMT2A, LIMK1, SMAD4, MC2R, MEFV, MAP3K1, MID1, MTM1, HRAS, MUSK, MYF6, MYH3, MYH11, MYL2, MYLK, LIG4, LHX1, LFNG, LETM1, KRAS, KIT, KISS1, KCNQ1, STT3A, ITGA7, IRF6, IPW, INSR, INPPL1, IGF2, HSPG2, HSD17B3, FANCD2, FANCA, NDN, CDH11, BRCA2, BUB1B, MYRF, TMEM258, CDC6, CDC42, CDKN1C, BRCA1, CHD4, AKR1C4, CHRNG, ERCC8, CLCN4, COL3A1, BRAF, BMP4, EZH2, ARVCF, ACTA2, ACTG2, AEBP1, JAG1, BIN1, ANK1, RERE, BLM, ATR, AXL, BBS1, BBS2, BBS4, BDNF, COL4A1, COL6A1, COMT, EP300, DVL1, DVL3, EFNB1, MEGF8, EIF2S3, ELN, ERCC2, CREBBP, ERCC3, ERCC4, ERCC5, ERCC6, EVC, EXT2, DUSP6, SLC26A2, ATN1, DNMT3A, DNM2, DMPK, DLX4, DKC1, DHODH, DHCR7, AKR1C2, DDB2, DCC, DAG1, CYB5A, CTBP1, NKX2-5, MYOD1, H19-ICR, NDP, SMARCB1, XRCC2, ROBO1, RPL10, XPC, RRAS, RREB1, XPA, WNT7A, RYR1, WNT5A, SALL1, SKI, NF1, WNT3, SMARCA2, RIT1, RFC2, DPF2, RAD51C, PEX5, PYCR1, RAC1, RAD21, RAD51, ZBTB16, MKRN3, RASA2, YY1, RAP1A, RAP1B, XRCC4, RAPSN, RARB, SMARCA4, SMARCC2, PEX19, SMARCE1, HNF1B, TCOF1, TFAP2A, NSD2, TPM2, TPM3, WHCR, TSPY1, TSPYL1, HIRA, TWIST1, UBA1, UBE2A, CLIP2, KDM6A, TBX3, TCF4, TBCE, SOX9, SMS, SNRPN, SOS2, SOX2, SOX3, SOX4, NELFA, TBX1, SOX10, SOX11, SRD5A2, STK11, VAMP7, TAF6, PEX2, UFD1, PEX1, NRAS, PMM2, RNF113A, PIK3CA, PIK3C2A, PEX14, PEX13, NUP88, SIX6, ORC1, ORC4, OTX2, PEX12, PAX6, PEX10, PEX6, PTCH1, PBX1, PDE4D, KAT6A, ROR2, PLAGL1, TUBA1A, MAP2K2, MAP2K1, PRKAR1A, POLD1, PPP1CB, SHOC2, NPHP1, NOTCH3, POR, POLE, NOTCH2, KMT2D, SSTR4, LPAR2, ACKR3, GPR42, EDNRA, CXCR6, BRS3, ADRA1A, ADRA2B, HOXA10, TGCT1, MMP11, POU5F1P3, EGR4, POU5F1P4, GPRC6A, SLC22A3, BRD2, SOD1, AZF1, GGCT, HOXA11, POU5F1, ZNF214, ZNF215, AHR, FZD4, MKX, KIR2DS2, CD44, FCGR1CP, MRGPRX1, USP1, IL27, UTF1, CFTR, ATP2B1, ATP2A1, CAT, CALCA, IL31, AXIN1, GPR166P, VN1R17P, NANOS2, OXER1, NR1I2, STRA8, MIR34C, RBMY2DP, ALPG, MIR210, RBMY1D, BAX, SPAG5, PIWIL4, PDE4A, STRBP, IGFBP3, PGK2, LPAR3, MARCHF1, HMGA2, KIR2DS1, KIR3DL2, LCN2, PDE4B, LHCGR, DUOX1, IL17D, HLA-DRB1, LIFR, REG3A, MMP1, MMP2, NUMA1, MYH2, DKKL1, MYH7, IL22, SYCP3, NOX4, DUOX2, HSPA4, HLA-DQB1, UCHL1, SLC52A2, CIRBP, GPR151, TPT1, GTSF1, MRGPRX4, MRGPRX3, TGFBR3, ST13, E2F1, F2R, PAICS, PLK4, FCGR1A, MYDGF, FCGR1B, RPL29, HHIP, GART, LGR6, IL21, PTBP2, MIER1, GHSR, PTGDS, NPBWR2, PRDM9, PARPBP
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Subcutaneous Emphysema
Wikipedia
Louis Hamman described it in postpartum woman; indeed, subcutaneous emphysema is sometimes known as Hamman's syndrome . However, in some medical circles, it can instead be more commonly known as Macklin's Syndrome after L. ... Macklin published further insights into the pathophysiology of spontaneous Macklin's Syndrome occurring from a severe asthmatic attack. The presence of subcutaneous emphysema in a person who appears quite ill and febrile after bout of vomiting followed by left chest pain is very suggestive of the diagnosis of Boerhaave's syndrome , which is a life-threatening emergency caused by rupture of the distal esophagus. ... External links [ edit ] Classification D ICD - 10 : T79.7 , T81.8 ICD - 9-CM : 958.7 , 998.81 MeSH : D013352 DiseasesDB : 29756 External resources MedlinePlus : 003286 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 Trauma Principles Polytrauma Major trauma Traumatology Triage Resuscitation Trauma triad of death Assessment Clinical prediction rules Revised Trauma Score Injury Severity Score Abbreviated Injury Scale NACA score Investigations Diagnostic peritoneal lavage Focused assessment with sonography for trauma Management Principles Advanced trauma life support Trauma surgery Trauma center Trauma team Damage control surgery Early appropriate care Procedures Resuscitative thoracotomy Pathophysiology Injury MSK Bone fracture Joint dislocation Degloving Soft tissue injury Resp Flail chest Pneumothorax Hemothorax Diaphragmatic rupture Pulmonary contusion Cardio Internal bleeding Thoracic aorta injury Cardiac tamponade GI Blunt kidney trauma Ruptured spleen Neuro Penetrating head injury Traumatic brain injury Intracranial hemorrhage Mechanism Blast injury Blunt trauma Burn Penetrating trauma Crush injury Stab wound Ballistic trauma Electrocution Region Abdominal trauma Chest trauma Facial trauma Head injury Spinal cord injury Demographic Geriatric trauma Pediatric trauma Complications Posttraumatic stress disorder Wound healing Acute lung injury Crush syndrome Rhabdomyolysis Compartment syndrome Contracture Volkmann's contracture Embolism air fat Chronic traumatic encephalopathy Subcutaneous emphysema
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Anterograde Amnesia
Wikipedia
The memory impairment that is pathognomonic to Korsakoff's syndrome predominantly affects the declarative memory , leaving non-declarative memory that is often procedural in nature relatively intact. [7] The disproportionate severity in anterograde episodic memory processes in contrast to other cognitive processes is what differentiates Korsakoff syndrome from other conditions such as alcohol-related dementia. ... Pathophysiology [ edit ] The pathophysiology of anterograde amnesic syndromes varies with the extent of damage and the regions of the brain that were damaged. ... The patient in this case did not show any disconnection syndrome, which is unexpected since the structures involved divide the brain hemispheres (both sides of her brain were able to communicate). ... Temporal order memory in patients with Korsakoff's syndrome and medial temporal amnesia" Neuropsychologia 2002;40(7):853–61. ^ Bulach, R; Myles, PS; Russnak, M (Mar 2005). ... Retrieved 2011-11-28 . ^ Hayes, S., Fortier, C., Levine, A., Milberg, W., McGlinchey, R. Implicit Memory in Korsakoff's Syndrome: A Review of Procedural Learning and Priming Studies.
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Cardiac Arrest
Wikipedia
Specialty Cardiology , emergency medicine Symptoms Loss of consciousness , abnormal or no breathing [1] [2] Usual onset Older age [3] Causes Coronary artery disease , congenital heart defect , major blood loss , lack of oxygen, very low potassium , heart failure [4] Diagnostic method Finding no pulse [1] Prevention Not smoking, physical activity, maintaining a healthy weight, healthy eating [5] Treatment Cardiopulmonary resuscitation (CPR), defibrillation [6] Prognosis Survival rate ~ 10% (outside of hospital) 25% (in hospital) [7] [8] Frequency 13 per 10,000 people per year (outside hospital in the US) [9] Deaths > 425,000 per year (U.S.) [10] Cardiac arrest is a sudden loss of blood flow resulting from the failure of the heart to pump effectively. [11] Signs include loss of consciousness and abnormal or absent breathing . [1] [2] Some individuals may experience chest pain , shortness of breath , or nausea before cardiac arrest. [2] If not treated within minutes, it typically leads to death . [11] The most common cause of cardiac arrest is coronary artery disease . [4] Less common causes include major blood loss , lack of oxygen , very low potassium , heart failure , and intense physical exercise . [4] A number of inherited disorders may also increase the risk including long QT syndrome . [4] The initial heart rhythm is most often ventricular fibrillation . [4] The diagnosis is confirmed by finding no pulse . [1] While a cardiac arrest may be caused by heart attack or heart failure, these are not the same. [11] Prevention includes not smoking, physical activity, and maintaining a healthy weight. [5] Treatment for cardiac arrest includes immediate cardiopulmonary resuscitation (CPR) and, if a shockable rhythm is present, defibrillation . [6] Among those who survive, targeted temperature management may improve outcomes. [12] [13] An implantable cardiac defibrillator may be placed to reduce the chance of death from recurrence. [5] In the United States , approximately 535,000 cases occur a year. [9] About 13 per 10,000 people (326,000 or 61%) experience cardiac arrest outside of a hospital setting, while 209,000 (39%) occur within a hospital. [9] Cardiac arrest becomes more common with age. [3] It affects males more often than females. [3] The percentage of people who survive out of hospital cardiac arrest with treatment by emergency medical services is about 8%. [7] Many who survive have significant disability . [7] However, many American television programs have portrayed unrealistically high survival rates of 67%. [7] Contents 1 Signs and symptoms 2 Causes 2.1 Coronary artery disease 2.2 Structural heart disease 2.3 Inherited arrhythmia syndromes 2.4 Non-cardiac causes 2.5 Mnemonic for reversible causes 2.6 Children 2.7 Risk factors 3 Mechanism 4 Diagnosis 4.1 Classifications 5 Prevention 5.1 Code teams 5.2 Implantable cardioverter defibrillator 5.3 Diet 6 Management 6.1 Cardiopulmonary resuscitation 6.2 Defibrillation 6.3 Medications 6.4 Targeted temperature management 6.5 Do not resuscitate 6.6 Chain of survival 6.7 Other 7 Prognosis 8 Epidemiology 9 Society and culture 9.1 Names 9.2 Slow code 10 References 11 External links Signs and symptoms [ edit ] Cardiac arrest is not preceded by any warning symptoms in approximately 50 percent of people. [14] For those who do experience symptoms, they will be non-specific, such as new or worsening chest pain , fatigue , blackouts , dizziness , shortness of breath , weakness and vomiting . [15] [16] When cardiac arrest occurs, the most obvious sign of its occurrence will be the lack of a palpable pulse in the victim. ... A study of military recruits age 18-35 found that this accounted for over 40% of SCDs. [23] [24] Congestive heart failure increases the risk of SCD fivefold. [27] Inherited arrhythmia syndromes [ edit ] Arrhythmias that are not due to structural heart disease account for 5 to 10% of sudden cardiac arrests. [30] [31] [32] These are frequently caused by genetic disorders that lead to abnormal heart rhythms. [20] The genetic mutations often affect specialised proteins known as ion channels that conduct electrically charged particles across the cell membrane , and this group of conditions are therefore often referred to as channelopathies . Examples of these inherited arrhythmia syndromes include Long QT syndrome , Brugada Syndrome , Catecholaminergic polymorphic ventricular tachycardia , and Short QT syndrome . Other conditions that promote arrhythmias but are not caused by genetic mutations include Wolff-Parkinson-White syndrome . [21] Long QT syndrome, a condition often mentioned in young people's deaths, occurs in one of every 5000 to 7000 newborns and is estimated to be responsible for 3000 deaths each year compared to the approximately 300,000 cardiac arrests seen by emergency services. [33] These conditions are a fraction of the overall deaths related to cardiac arrest but represent conditions which may be detected prior to arrest and may be treatable.CACNA1C, TMEM43, DSP, LMNA, MYBPC3, TNNT2, NKX2-5, PPP1R13L, SCN5A, KCNH2, KCNQ1, CACNA2D1, NOS1AP, KCNE1, TRDN, IKZF1, AKAP9, CRLF1, HCN4, KCNE2, ZNF365, GTF2IRD1, ACADL, BAZ1B, RAB3GAP1, CSRP3, CLIP2, WIPF1, WAS, TNNI3, TGFB3, SNTA1, SCN10A, SCN4B, RYR2, RFC2, AP1G2, ZFPM2, SYNE2, SYNE1, TPTE2P6, KCTD1, RBM20, PCSK9, TECRL, ARL5B, MARCHF10, UPP2, ZNF385B, ALG10B, DNAJC19, DEGS2, TANC1, MAML2, ZRANB3, ABCG8, ABCG5, TRPM4, PRKAG2, PLCE1, BAZ2B, ACAD9, TBL2, PTPN22, ABCA12, LDLRAP1, NGEF, CLCF1, PLN, PTEN, MYH7, PKP2, CPT1A, GRIA1, GNAI2, FHL1, FGFR3, ESR1, EYA4, EMD, ELN, DTNA, DSG2, DSC2, DES, CHRNB4, HLA-B, CAV3, CASQ2, CALM3, CALM2, CALM1, ATF1, ABCC6, APOB, ANK2, AKT1, PARP4, ACYP2, ENPP1, GTF2I, ND6, ND4, MYL3, ACADVL, MYH6, TRNW, TRNS2, TRNS1, TRNQ, TRNL1, TRNH, TRNF, JUP, ND5, CEP85L, ND1, COX3, KCNJ2, KCNJ5, LDLR, LIMK1, LRP6, COX1, COX2, CACNB2, LIPC, KCNJ11, ADRB2, ADRA2B, ROCK2, ROCK1, IL18
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Porphyria Cutanea Tarda
Wikipedia
ISBN 978-1-4051-3400-2 . [ page needed ] External links [ edit ] Porphyria cutanea tarda at NIH 's Office of Rare Diseases Classification D ICD - 10 : E80.1 ICD - 9-CM : 277.1 OMIM : 176100 MeSH : D017119 DiseasesDB : 10376 External resources eMedicine : derm/344 Orphanet : 101330 v t e Diseases of the skin and appendages by morphology Growths Epidermal Wart Callus Seborrheic keratosis Acrochordon Molluscum contagiosum Actinic keratosis Squamous-cell carcinoma Basal-cell carcinoma Merkel-cell carcinoma Nevus sebaceous Trichoepithelioma Pigmented Freckles Lentigo Melasma Nevus Melanoma Dermal and subcutaneous Epidermal inclusion cyst Hemangioma Dermatofibroma (benign fibrous histiocytoma) Keloid Lipoma Neurofibroma Xanthoma Kaposi's sarcoma Infantile digital fibromatosis Granular cell tumor Leiomyoma Lymphangioma circumscriptum Myxoid cyst Rashes With epidermal involvement Eczematous Contact dermatitis Atopic dermatitis Seborrheic dermatitis Stasis dermatitis Lichen simplex chronicus Darier's disease Glucagonoma syndrome Langerhans cell histiocytosis Lichen sclerosus Pemphigus foliaceus Wiskott–Aldrich syndrome Zinc deficiency Scaling Psoriasis Tinea ( Corporis Cruris Pedis Manuum Faciei ) Pityriasis rosea Secondary syphilis Mycosis fungoides Systemic lupus erythematosus Pityriasis rubra pilaris Parapsoriasis Ichthyosis Blistering Herpes simplex Herpes zoster Varicella Bullous impetigo Acute contact dermatitis Pemphigus vulgaris Bullous pemphigoid Dermatitis herpetiformis Porphyria cutanea tarda Epidermolysis bullosa simplex Papular Scabies Insect bite reactions Lichen planus Miliaria Keratosis pilaris Lichen spinulosus Transient acantholytic dermatosis Lichen nitidus Pityriasis lichenoides et varioliformis acuta Pustular Acne vulgaris Acne rosacea Folliculitis Impetigo Candidiasis Gonococcemia Dermatophyte Coccidioidomycosis Subcorneal pustular dermatosis Hypopigmented Tinea versicolor Vitiligo Pityriasis alba Postinflammatory hyperpigmentation Tuberous sclerosis Idiopathic guttate hypomelanosis Leprosy Hypopigmented mycosis fungoides Without epidermal involvement Red Blanchable Erythema Generalized Drug eruptions Viral exanthems Toxic erythema Systemic lupus erythematosus Localized Cellulitis Abscess Boil Erythema nodosum Carcinoid syndrome Fixed drug eruption Specialized Urticaria Erythema ( Multiforme Migrans Gyratum repens Annulare centrifugum Ab igne ) Nonblanchable Purpura Macular Thrombocytopenic purpura Actinic/solar purpura Papular Disseminated intravascular coagulation Vasculitis Indurated Scleroderma / morphea Granuloma annulare Lichen sclerosis et atrophicus Necrobiosis lipoidica Miscellaneous disorders Ulcers Hair Telogen effluvium Androgenic alopecia Alopecia areata Systemic lupus erythematosus Tinea capitis Loose anagen syndrome Lichen planopilaris Folliculitis decalvans Acne keloidalis nuchae Nail Onychomycosis Psoriasis Paronychia Ingrown nail Mucous membrane Aphthous stomatitis Oral candidiasis Lichen planus Leukoplakia Pemphigus vulgaris Mucous membrane pemphigoid Cicatricial pemphigoid Herpesvirus Coxsackievirus Syphilis Systemic histoplasmosis Squamous-cell carcinoma v t e Vesiculobullous disease Acantholysis ( epidermis ) Pemphigus Pemphigus vulgaris : Pemphigus vegetans of Hallopeau of Neumann Pemphigus foliaceus : Pemphigus erythematosus Endemic pemphigus Paraneoplastic pemphigus IgA pemphigus Subcorneal pustular Intraepidermal neutrophilic Other Transient acantholytic dermatosis Pemphigoid ( dermis ) IgG : Bullous pemphigoid Cicatricial pemphigoid Localised Gestational pemphigoid Pemphigoid nodularis Epidermolysis bullosa acquisita IgA : Linear IgA bullous dermatosis Childhood Adult Other bullous Dermatitis herpetiformis In diseases classified elsewhere Porphyria cutanea tarda Bullous lupus erythematosus PUVA-induced acrobullous dermatosis v t e Heme metabolism disorders Porphyria , hepatic and erythropoietic ( porphyrin ) early mitochondrial: ALAD porphyria Acute intermittent porphyria cytoplasmic: Gunther disease/congenital erythropoietic porphyria Porphyria cutanea tarda / Hepatoerythropoietic porphyria late mitochondrial: Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria Hereditary hyperbilirubinemia ( bilirubin ) unconjugated: Gilbert's syndrome Crigler–Najjar syndrome Lucey–Driscoll syndrome conjugated: Dubin–Johnson syndrome nd sheet Rotor syndrome
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Hereditary Transthyretin Amyloidosis
Gene_reviews
Surgery is indicated for carpal tunnel syndrome, vitrectomy for vitreous involvement, and surgical treatment for glaucoma. In those with sick sinus syndrome or second-degree or third-degree AV block, a cardiac pacemaker may be indicated. ... Individuals with specific TTR variants (e.g., p.Leu78His, p.Leu78Arg, p.Lys90Asn, p.Ile104Ser, p.Ile127Val, p.Tyr134His) tend to develop carpal tunnel syndrome as an initial symptom [Nakazato 1998, Connors et al 2000, Benson 2001, Hund et al 2001, Connors et al 2003]. ... The majority of individuals with wild type ATTR amyloidosis present with carpal tunnel syndrome [Nakagawa et al 2016]. Wild type ATTR amyloidosis should be distinguished from hereditary ATTR amyloidosis with variant TTR or other forms of amyloidosis such as primary (AL) amyloidosis. ... Treatment of Manifestations in Individuals with Hereditary Transthyretin (ATTR) Amyloidosis View in own window Manifestation/Concern Treatment Peripheral & autonomic neuropathy Orthotopic liver transplantation TTR tetramer stabilizers Gene-silencing therapies Cardiomyopathy TTR tetramer stabilizers Carpal tunnel syndrome Carpal tunnel release surgery Vitreous involvement Vitrectomy Glaucoma Glaucoma surgery 2nd- or 3rd-degree AV block & sick sinus syndrome Cardiac pacemaker implantation Orthotopic liver transplantation (OLTX).TTR, APC, MUTYH, GSN, PTGS2, CTNNB1, APOA1, APOE, B2M, NPPB, RBP4, ATXN1, RLBP1, RDH5, PLA2G2A, PYY, PPP1R1A, SNCA, SERPINA1, NTF3, NOTCH1, NGF, ATXN2, AGER, TRIM21, SST, VEGFA, VIP, MIA, AXIN2, EIF2S2, PART1, GPSM2, TNMD, DCLRE1B, NLRP3, C4orf3, MFT2, MIA-RAB4B, NEFL, MSH2, NUDT1, EPO, ALDH1A3, BGN, CACNA1A, CALR, CASP3, CLU, COL11A1, CRP, CTSE, CYLD, CYP2A7, DPYD, EIF2S1, EIF2S3, FAP, COX2, FBN1, GPC5, GCG, GLB1, IAPP, IL6, IL10, KRAS, LCN2, LCT, MLH1, MMP9, MRC1, ALB, MTCO2P12
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C1q Nephropathy
Gard
It is one of the many diseases that can cause the nephrotic syndrome . C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people.
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Blood Group, Globoside System
Omim
Anti-P antibodies are also implicated in paroxysmal cold hemoglobinuria (PCH), a syndrome often seen in children after viral infection.