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Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-Related, 2
Omim
His father later presented with myelodysplastic syndrome (MDS) at age 45 years. In vitro studies showed less than 1% telomerase activity, and telomeres in the father were very short. ... In a boy with aplastic anemia and his father with adult-onset myelodysplastic syndrome, Kirwan et al. (2009) identified a heterozygous mutation (602322.0013). The findings suggested that constitutional TERC mutations can be associated with the development of myelodysplastic syndrome even in the absence of aplastic anemia. ... INHERITANCE - Autosomal dominant RESPIRATORY Lung - Pulmonary fibrosis ABDOMEN Liver - Cirrhosis (in some) SKIN, NAILS, & HAIR Hair - Premature graying of the hair HEMATOLOGY - Bone marrow failure - Pancytopenia - Aplastic anemia NEOPLASIA - Increased risk for cancer - Increased risk for myelodysplastic syndrome - Increased risk for hematologic cancer, particularly acute myeloid leukemia LABORATORY ABNORMALITIES - Decreased telomere length in lymphocytes MISCELLANEOUS - Adult onset - Variable manifestations - Incomplete penetrance MOLECULAR BASIS - Caused by mutation in the telomerase RNA component gene (TERC, 602322.0004 ) ▲ Close
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Deafness, X-Linked 1
Omim
Loss-of-function PRPS1 mutations, resulting in decreased enzyme activity, can also cause X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; 311070) and Arts syndrome (ARTS; 301835). There is considerable phenotypic overlap between DFNX1, CMTX5, and Arts syndrome, as well as intrafamilial variability depending on gender, X-inactivation ratio, residual enzyme activity, and additional factors. ... A 42-year-old woman had only prelingual-onset hearing loss without symptoms of neurologic dysfunction, consistent with DFNX1, whereas her 36-year-old brother had a protracted form of Arts syndrome, including prelingual sensorineural hearing loss. ... Many families with congenital sensorineural deafness are found to have the gusher-deafness syndrome (304400) with typical radiologic changes in the temporal bone (Reardon et al., 1991).
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Holoprosencephaly 9
Omim
Mutation in the GLI2 gene can also cause Culler-Jones syndrome (CJS; 615849), which is a less severe disorder. ... Ribeiro et al. (2005) stated that this patient had the same syndrome as that previously reported by Guion-Almeida et al. (1999), who described a Brazilian female infant with holoprosencephaly, bilateral clinical anophthalmia, and agenesis of the eye globes and optic nerves. ... Ribeiro et al. (2005) also suggested that the holoprosencephaly cases with first arch anomalies (cases 14 and 24) reported by Blaas et al. (2002), the features of which included dysmorphic ears, preauricular tags, thoracic hemivertebrae, tetralogy of Fallot, aortic coarctation, and ventricular septal defect, might represent the same syndrome. Guion-Almeida et al. (2008) reported 3 unrelated Brazilian patients with holoprosencephaly and variable central nervous system involvement, microphthalmia, and first branchial arch anomalies. ... Guion-Almeida et al. (2008) concluded that this syndrome represents a recurrent pattern involving the prosencephalon, first branchial arch, and eye primordium, and stated that mutations in the GLI2 and PTCH (601309) genes could not be ruled out.
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Analgesic Nephropathy
Wikipedia
"Analgesic nephropathy: etiology, clinical syndrome, and clinicopathologic correlations in Australia". ... External links [ edit ] Classification D ICD - 10 : N14.0 ICD - 9-CM : 583.89 , 584.7 External resources MedlinePlus : 000482 eMedicine : med/2839 v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy
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Cryptogenic Organizing Pneumonia
Wikipedia
Not to be confused with Bronchiolitis obliterans syndrome . Cryptogenic organizing pneumonia Micrograph showing a Masson body (off center left/bottom of the image – pale circular and paucicellular), as may be seen in cryptogenic organizing pneumonia. ... May 2008. v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis v t e Pneumonia Infectious pneumonias Bacterial pneumonia Viral pneumonia Fungal pneumonia Parasitic pneumonia Atypical pneumonia Community-acquired pneumonia Healthcare-associated pneumonia Hospital-acquired pneumonia Ventilator-associated pneumonia Severe acute respiratory syndrome Pneumonias caused by infectious or noninfectious agents Aspiration pneumonia Lipid pneumonia Eosinophilic pneumonia Bronchiolitis obliterans organizing pneumonia Noninfectious pneumonia Chemical pneumonitis Idiopathic pneumonia syndrome
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Erb's Palsy
Wikipedia
The most commonly involved root is C5 (aka Erb's point : the union of C5 & C6 roots) [6] as this is mechanically the furthest point from the force of traction, therefore, the first/most affected. [7] Erb–Duchenne palsy presents as a lower motor neuron syndrome associated with sensibility disturbance and vegetative phenomena. [8] The most commonly involved nerves are the suprascapular nerve , musculocutaneous nerve , and the axillary nerve . [9] [10] The signs of Erb's palsy include loss of sensation in the arm and paralysis and atrophy of the deltoid , biceps , and brachialis muscles. [6] "The position of the limb, under such conditions, is characteristic: the arm hangs by the side and is rotated medially; the forearm is extended and pronated. ... li=AAk6ORB&ocid=ientp ^ TM Lain (April 1969). "The military brace syndrome. A report of sixteen cases of Erb's palsy occurring in military cadets". ... External links [ edit ] Classification D ICD - 10 : P14.0 ICD - 9-CM : 767.6 DiseasesDB : 30827 External resources Patient UK : Erb's palsy v t e Conditions originating in the perinatal period / fetal disease Maternal factors complicating pregnancy, labour or delivery placenta Placenta praevia Placental insufficiency Twin-to-twin transfusion syndrome chorion / amnion Chorioamnionitis umbilical cord Umbilical cord prolapse Nuchal cord Single umbilical artery presentation Breech birth Asynclitism Shoulder presentation Growth Small for gestational age / Large for gestational age Preterm birth / Postterm pregnancy Intrauterine growth restriction Birth trauma scalp Cephalohematoma Chignon Caput succedaneum Subgaleal hemorrhage Brachial plexus injury Erb's palsy Klumpke paralysis Affected systems Respiratory Intrauterine hypoxia Infant respiratory distress syndrome Transient tachypnea of the newborn Meconium aspiration syndrome Pleural disease Pneumothorax Pneumomediastinum Wilson–Mikity syndrome Bronchopulmonary dysplasia Cardiovascular Pneumopericardium Persistent fetal circulation Bleeding and hematologic disease Vitamin K deficiency bleeding HDN ABO Anti-Kell Rh c Rh D Rh E Hydrops fetalis Hyperbilirubinemia Kernicterus Neonatal jaundice Velamentous cord insertion Intraventricular hemorrhage Germinal matrix hemorrhage Anemia of prematurity Gastrointestinal Ileus Necrotizing enterocolitis Meconium peritonitis Integument and thermoregulation Erythema toxicum Sclerema neonatorum Nervous system Perinatal asphyxia Periventricular leukomalacia Musculoskeletal Gray baby syndrome muscle tone Congenital hypertonia Congenital hypotonia Infections Vertically transmitted infection Neonatal infection rubella herpes simplex mycoplasma hominis ureaplasma urealyticum Omphalitis Neonatal sepsis Group B streptococcal infection Neonatal conjunctivitis Other Miscarriage Perinatal mortality Stillbirth Infant mortality Neonatal withdrawal
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Congenital Disorder Of Glycosylation, Type Iic
Omim
Frydman et al. (1992) discussed the possibility of a pleiotropic effect of a single gene or a contiguous gene syndrome. Frydman et al. (1992) referred to the disorder as 'Rambam-Hasharon' syndrome after the Israeli areas in which the disorder was first described. ... Biochemical Features Frydman et al. (1996) noted that several fucosylated proteoglycans were deficient in patients with Rambam-Hasharon syndrome, suggesting an inborn error of fucose metabolism. ... This was the first prenatal diagnosis of the syndrome and the first case found in a female. Documentation of the syndrome in patients of both sexes and the parental consanguinity supported autosomal recessive inheritance. Two apparent recombinations between FUT1, the H gene, and FUT2 (182100), the secretor gene, suggested to Frydman et al. (1996) that this syndrome was due to a mutated gene other than FUT1, which causes multiple deficiencies of fucosylated proteoglycans.
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Tetralogy Of Fallot
Omim
Tetralogy of Fallot is also a well-recognized feature of many syndromes, including the 22q11 microdeletion syndrome (188400) and trisomy 21 (190685), and has been found to be caused by mutations in several genes, including ZFPM2 (603693), TBX1 (602054), and GATA6 (601656). ... The authors suggested that this association may represent a distinct syndrome with autosomal dominant inheritance. ... No individual within this family met diagnostic criteria for any previously described clinical syndrome, including Alagille syndrome-1 (ALGS1; 118450), caused by haploinsufficiency for the JAG1 gene. ... Among 230 patients with TOF, Rauch et al. (2010) found that 3 (1.3%) had Alagille syndrome associated with JAG1 mutations. ... She did not have the facial gestalt of 22q11.2 deletion syndrome. The insertion was shown to result in the expansion of a polyalanine tract, which caused decreased transcriptional activity and cytoplasmic aggregation of the protein in cellular studies.ZFPM2, NKX2-5, JAG1, GATA4, TBX1, GATA6, GDF1, GJA5, CITED2, FLT4, GATA5, NKX2-6, FOXC2, FOXH1, HAND2, FGF8, FOXC1, HEY2, MKS1, BMP10, NTF3, INVS, DNAH5, PHC1, DOCK1, NRP1, HIRA, UFD1, NOTCH1, COMT, PTPN11, FN1, TAB2, MKKS, RFC2, RET, NOTCH2, NODAL, UBE2T, INTU, ROR2, CCDC22, SPECC1L, RAD51C, RAD51, DLL1, PTCH1, PIGN, NIPBL, RPH3A, TBL2, PAH, HIBCH, ATXN2, CERS1, RPL5, TDGF1, GTF2IRD1, PIGL, NR2F2, TGIF1, TPM1, UBE2A, SLC35A2, BAZ1B, CLIP2, WT1, XRCC2, ZIC2, CXCR4, ALX1, SEC24C, TTC37, SEMA3E, SIX3, RREB1, MAD2L2, SF3B4, SALL1, CDON, SHH, SKI, TMEM94, SKIV2L, PQBP1, SH2B3, RBM8A, WASHC5, FIG4, NID1, LINC02676, DACT1, STRA6, DDX59, NAA25, EHMT1, PALB2, CRELD1, NXN, ELN, SLX4, EPHB4, ERCC4, PRDM16, FANCM, FANCA, COX3, BRIP1, DISP1, FANCE, BRAF, ZFPM2-AS1, RNU4ATAC, ALX3, ARVCF, RERE, BRCA1, BRCA2, COL2A1, EOGT, MYRF, HECTD4, JMJD1C, CHD4, CHRM3, FANCD2, FANCC, FANCB, SALL4, COX2, COX1, SUFU, RAB23, DLL4, KCNAB2, FANCL, RFWD3, FANCI, CHD7, LIMK1, VAC14, FANCF, HDAC8, RBPJ, RBM10, FOXF1, FANCG, GTF2I, ARID1B, DOCK6, GP1BB, GLI2, ARHGAP31, FGFR1, GPC5, GAS1, GABRD, VEGFA, TBX20, CHDH, HAND1, GJA1, KDR, TGFB1, VANGL2, MIR421, MIR1233-1, SULT1E1, MTHFR, APOE, HIF1A, REN, PVR, PITX2, MMP9, NPPB, MEIS2, FBN2, MAVS, GPR42, HAS2, MMP3, HOXA1, ACKR3, DGCR8, MMP2, HTC2, JARID2, FBN1, LPA, LRPAP1, LSAMP, MAP4, MBNL1, FEZF2, SLC50A1, IQGAP1, F5, TSPYL2, ADRA2B, AGT, ALDH2, MIR625, MIR424, BRS3, CAD, CD48, CRKL, CRP, CYBA, ACE, DMD, FSD1L, DNAH8, DNMT1, DNMT3B, DNTT, CORO7, FSD1, DVL2, EDNRA, EGF, F2, MYL4, CHMP5, TCF21, SLN, SNAI2, SCO2, REC8, SMN1, SMN2, SSTR4, ADRA1A, TADA2A, TBX5, RGS6, WNT11, TFAP2B, CHD1L, TFAP2C, TTN, VIM, LPAR2, BEST1, MBD2, AVSD1, ALDH1A2, MBNL2, ACSM3, RYR2, RXRA, NTRK3, OPRD1, PBX1, PBX3, PDGFA, LAMP3, PECAM1, AATF, PFKL, SUN2, PLN, PTH, DICER1, RASA1, MMRN1, ROBO1, BVES, WWP2, PPARGC1A, ROCK1, CXCR6, ACTC1
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Congenital Hyperinsulinism
Wikipedia
Positron emission tomography is becoming the most useful imaging technique. [13] Differential diagnosis [ edit ] The differential diagnosis of congenital hyperinsulinism is consistent with PMM2-CDG , as well as several syndromes. Among other DDx we find the following that are listed: [14] MPI-CDG Beckwith-Wiedemann syndrome Sotos syndrome Usher 1 syndromes Types [ edit ] Congenital hyperinsulinism has two types, diffuse and focal , [5] as indicated below: Diffuse hyperinsulinism FHI-K ATP [5] FHI-HADH [5] FHI-UCP2 [5] FHI-HNF4A [5] Glucokinase mutation [15] Hyperammonemic hyperinsulinism (glutamate dehydrogenase mutations) [16] Focal hyperinsulinism SUR1 mutation with clonal loss of heterozygosity of 11p15 [17] Kir6.23 mutation with clonal loss of heterozygosity of 11p15 [18] Treatment [ edit ] Diazoxide Diagram showing the area removed for surgery- pancreatectomy In terms of treatment, acute hypoglycemia is reversed by raising the blood glucose, but in most forms of congenital hyperinsulinism hypoglycemia recurs and the therapeutic effort is directed toward preventing falls and maintaining a certain glucose level. [5] [4] Some of the following measures are often tried: Chlorothiazide [4] Recombinant IGF-I [5] Continuous feeding with formula through a nasogastric tube or gastrostomy [5] Dextrose [4] Glucocorticoid [5] Diazoxide [19] Octreotide [19] Glucagon [19] Nifedipine or other calcium channel blocker [4] Pancreatectomy [19] Corn starch can be used in feeding; unexpected interruptions of continuous feeding regimens can result in sudden, hypoglycemia, gastrostomy tube insertion (requires a minor surgical procedure [20] ) is used for such feeding. Prolonged glucocorticoid use incurs the many unpleasant side effects of Cushing's syndrome , while diazoxide can cause fluid retention requiring concomitant use of a diuretic , and prolonged use causes hypertrichosis . ... These cases can be cured by removing much less of the pancreas, resulting in excellent outcomes with no long-term problems. [4] [5] [21] History [ edit ] This condition has been referred to by a variety of names in the past 50 years; nesidioblastosis and islet cell adenomatosis were favored in the 1970s, beta cell dysregulation syndrome or dysmaturation syndrome in the 1980s, and persistent hyperinsulinemic hypoglycemia of infancy (PHHI) in the 1990s. [ citation needed ] See also [ edit ] Hyperammonemia List of congenital disorders References [ edit ] ^ a b c "Familial hyperinsulinism | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program" . rarediseases.info.nih.gov .KCNJ11, ABCC8, GCK, FOXA2, HADH, HNF4A, GLUD1, HNF1A, INSR, UCP2, SLC16A1, MEN1, PDX1, NEUROD1, CDKN1A, PAX4, INS, KLF11, MPI, BLK, CEL, CDKN2C, CDKN1B, MAFA, CDKN2B, APPL1, SST, GCG, MTOR, NSD1, PGM1, HAO2, MAP4K3, PDHX, KDM6A, MCTS1, IQGAP1, NES, CIB2, FGF21, MED25, SAR1A, HAO1, MCAT, NHS, TRPC4, GLP1R, CDKN1C, CMA1, DDC, DPP4, EHHADH, EMP1, HSD17B10, SKIL, HRAS, IGF1, LEP, PCNA, PMM2, RIT2, IH
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Sickle Cell Anemia
Omim
The higher expressors of HbS (Oman) had a sickle cell anemia clinical syndrome of moderate intensity, whereas the lower expressors had no clinical syndrome and were comparable to the solitary case first described in Oman. Popp et al. (1997) stated that the sickle cell anemia syndrome produced by HbS Antilles (141900.0244) is a more severe phenotype than that produced by HbS. ... Among black recruits the relative risk of sudden unexplained death (hemoglobin AS vs nonhemoglobin S) was 27.6, whereas among all recruits this risk was 39.8. Acute Chest Syndrome The acute chest syndrome is a leading cause of death among patients with sickle cell disease. ... Among older patients and those with neurologic symptoms, the syndrome often progressed to respiratory failure. ... The positive effect on the acute chest syndrome probably results from the fact that there are fewer episodes of bone marrow ischemia and embolization.HBB, NFE2L2, HP, TNF, VCAM1, DHODH, NPPB, CAD, CACNA1C, UMPS, HMOX1, SPTA1, BCL11A, HBG2, UGT1A8, HBE1, UGT1A10, UGT1A4, UGT1A7, UGT1A6, UGT1A3, UGT1A9, UGT1A5, G6PD, UGT1A1, ARAP1, OR51B5, UBIAD1, EDN1, MYB, OR51I2, MCC, RN7SL263P, SELP, LINC01847, PGF, MUC4, MTHFR, NPRL3, RABEP1, HBG1, CD34, HBA2, HBA1, GABPA, SORCS2, NOS3, HBS1L, F5, HPX, SCD, RHCE, ALB, SELL, VWF, APOL1, MBL2, RHD, F2, CAT, HAMP, CSF3, BCAM, VEGFA, REN, F3, EPO, HPGDS, CCR5, UGT1A, IL6, HIF1A, IL1B, CXCL8, HLA-DRB1, SCT, SELE, SERPINE1, ABO, CYP2D6, PSMA7, GSTT1, GSTK1, FUT1, KLF1, DLL3, IFNG, IGF1, CCL2, SOD2, TBX6, IL4, SLCO6A1, TRV-AAC1-4, CSF2, TGFB1, MIPEP, ANXA5, SPHK1, HLA-DQB1, ANXA1, KL, THBD, AKT1, GSTM1, PLF, HBD, MIR144, MPO, APOB, RAPGEF5, AGT, THBS1, ANGPT2, MYH9, ICAM4, LCN2, ADRA1D, CXCL10, NT5E, IL18, PDE5A, IL10, MBTPS1, ADCY6, AGER, ADRB2, IL1A, PPBP, IGFBP3, PRKAR1A, TNFRSF1A, GSTP1, GCH1, VPS51, SCD5, SAR1A, ADAMTS13, COMT, FCGR3B, RUNX2, KDM1A, ATP2A2, ANTXR1, CD14, CAPN1, HES7, DECR1, CD59, CYP2C19, RBM45, CTLA4, CD38, TFPI, CPLANE1, PRDX2, LIN28A, NOD2, CDH23, PRRT2, UGGT1, CHD7, CAMKMT, KLF10, NLRP3, GALNT13, TIE1, TK2, APOA5, TLR2, CCR2, MIR454, TNFSF15, TALDO1, TACR1, KRT88P, ROS1, RPS19, RYR1, KRT90P, LOC107987479, SCN2A, HOPX, CCL5, CCL7, CX3CL1, MPIG6B, CBSL, SFTPD, SLC12A4, SLC14A1, SLCO1A2, SMPD1, SPG7, SPRR2A, CD24, LPCAT1, SLC35A2, TRIM21, TAC1, SPTBN1, NCF1, RIPPLY2, UGT2B7, PER2, MIR326, CBX3, ZPR1, MBD2, TRPA1, RSPH1, SPIN1, HPSE, SKA2, ZFYVE9, LIPG, GRAP2, DMRT2, MIR301A, MIR214, AHSA1, KAT5, VHLL, LINC01194, GDF15, APOBEC3B, TRIM13, LPCAT3, CEBPZ, NR1I3, PIEZO1, APLN, SMUG1, DIANPH, BEAN1, KEAP1, CPVL, MESP2, TRPV1, EOS, HBFQTL2, AIMP2, CXADRP1, AKAP1, BRAP, LOH19CR1, PLA2G6, PRRX2, NANOS1, AHSP, OR10A4, ICOS, IL37, HAVCR1, TNFSF14, SLC17A5, TNFRSF6B, POLDIP2, RNF19A, CLDN15, PROZ, LRSAM1, ABCA1, MOK, CLDN3, CYBB, CXADR, CTSK, CST3, MAPK14, CRYZ, CRP, CRK, COX8A, CD40LG, COL4A1, CCR4, CLCN7, CHM, CHIT1, CTSC, CDA, CD63, CD55, ACE, CYB5R3, DNASE1, FOXO3, FKBP4, FH, FES, FDPS, FCGR3A, FCGR2A, FAAH, ETFA, EPAS1, ELAVL2, ELANE, EGR1, S1PR1, ATN1, DRD3, DRD2, CD47, CD36, FOSB, AMBP, ARG1, ABCC6, FAS, APOE, APOA1, BIRC3, BIRC2, AMH, ALOX5, CD28, ALAS2, AKT2, ADORA2B, ADCY9, ADA, ACP3, ACP5, ACHE, ARR3, ASS1, ATP2B4, AVPR1A, CD19, CD6, CD1C, CD1B, CD1A, KRIT1, CBS, CASR, CASP3, CASP1, CALM3, CALM2, CALM1, BTK, BRCA1, BDNF, BAX, FOS, MTOR, PTX3, MYH2, P2RY6, OXCT1, OLR1, OAT, NOS1, NM, NHS, NGF, MUC1, LFNG, MST1R, MFGE8, MCL1, MAP6, SMAD2, SMAD1, LYZ, LTB, P4HB, PAPPA, PER1, PF4, PTH, PRNP, MAPK8, MAPK1, PRKCB, PRKCA, PPARG, PPARA, PON3, PON1, PLXNA2, PLG, PLA2G4A, PLA2G2A, PLA2G1B, SERPINA1, ABCB1, LGALS3, LDLR, FUCA2, GYPA, HLA-G, HLA-E, HLA-A, HFE, CFH, HEXA, SERPIND1, GZMM, GTF2I, LCAT, GSR, CXCL1, NR3C1, CBLIF, GH1, GAPDH, GAD1, ACKR1, HMGB1, HMGCR, HSP90AA1, ICAM1, LAMC2, KRT12, KLRC3, KCNN4, JUND, JUNB, JUN, ITGB2, ITGAL, ITGA4, INSIG1, IMPA1, IL17A, CXCR2, IL5, IL2, IGF1R, HBB-LCR
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Hereditary Spastic Paraplegia
Wikipedia
9q Autosomal dominant Adult onset SPG20 275900 SPG20 13q13.3 Autosomal recessive Early onset Troyer syndrome SPG21 248900 ACP33 15q22.31 Autosomal recessive Early onset MAST syndrome SPG22 300523 SLC16A2 Xq13.2 X-linked recessive Early onset Allan–Herndon–Dudley syndrome SPG23 270750 RIPK5 1q32.1 Autosomal recessive Early onset Lison syndrome SPG24 607584 ? ... Autosomal dominant Infancy SPG67 615802 PGAP1 2q33.1 Autosomal recessive Infancy SPG68 609541 KLC2 11q13.1 Autosomal recessive Childhood SPOAN syndrome SPG69 609275 RAB3GAP2 1q41 Autosomal recessive Infancy Martsolf syndrome , Warburg Micro syndrome SPG70 156560 MARS 12q13 ? ... SERAC1 6q25.3 Juvenile MEGDEL syndrome SPG? 605739 KY 3q22.2 Autosomal recessive Infancy SPG? ... ATAD3A 1p36.33 Autosomal dominant Childhood Harel-Yoon syndrome SPG? KCNA2 1p13.3 Autosomal dominant Childhood SPG? ... Mutations leading to a loss-of-function in L1CAM are also found in other X-linked syndromes. All of these disorders display corticospinal tract impairment (a hallmark feature of HSP).
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Alzheimer Disease
Omim
There was no increased incidence of Down syndrome (190685) or hematologic malignancy. ... These families also demonstrated an increase in the frequency of Down syndrome (3.6 per 1,000 as compared with an expected rate of 1.3 per 1,000). ... In a study of the families of 188 Down syndrome children and 185 controls, Berr et al. (1989) found no evidence of an excess of dementia cases suggestive of AD in the families of patients with Down syndrome. ... An identical lesion occurs in the neurons of Down syndrome, at an earlier age than in Alzheimer disease. ... Using immunocytochemistry, Wolozin et al. (1988) identified a 68-kD protein in cerebral cortical neurons from both normal human fetal and neonatal brain and brain tissue from neonates with Down syndrome. The number of reactive neurons decreased sharply after age 2 years, but reappeared in older individuals with Down syndrome and in patients with Alzheimer disease.TOMM40, TREM2, ABCA7, APP, APOE, PSEN2, PSEN1, MAPT, SORL1, PRNP, CASP3, BACE1, GSK3B, NCSTN, IDE, IL1B, HFE, A2M, ACE, DHCR24, BIN1, ESR1, ADAM10, ADAMTS1, PGRMC1, VEGFA, ARC, CYP46A1, SLC30A4, VSNL1, PICALM, HMOX1, HLA-DRB5, IGF1R, IGF1, INPP5D, IGF2, MPO, NPY, NOS3, PLAU, PLCG2, PPARG, RELN, MTHFR, PYY, NECTIN2, SLC2A4, IGF2R, SOD2, MAOB, TF, LEP, TFAM, INSR, INS, TNF, TPI1, EPHA1, F2, ENO1, CR1, CASS4, ATP5F1A, CLU, CHRNB2, CHRNA7, MIR766, CD33, IQCK, EIF2S1, MIR505, APOC1, CALM1, MIR100, MIR146A, BDNF, BCL2, MIR375, MIR296, BCHE, MIR708, TPP1, SLC30A6, SNAR-I, DPYSL2, ACHE, CD2AP, GAPDHS, PCDH11X, CYP2D6, MIR4467, CRH, MIR3622B, BAX, AMFR, ABI3, CST3, MS4A4A, WWOX, BRCA2, FANCD2, TFF1, TAS2R64P, CTNNB1, SUCLA2, SNCA, CTSD, RNR2, NEFL, TAS2R62P, SOD1, ITPR3, ITPR2, ITPR1, FLAD1, PSENEN, TP53, CDK5R1, EIF2AK3, UBQLN1, ALG3, PIK3CG, PIK3CA, PIK3CD, SERPINA3, PIK3CB, DOCK3, APLP1, OGDH, CREB1, NOTCH1, CASP6, NGF, CCND1, FOS, DLX4, DLG4, DDIT3, RABGEF1, PEBP1, PYCARD, DAPK2, KCNIP3, CTSB, CSF2, CRMP1, CTSG, EHMT2, ENO2, ERBB4, TMED10, TERF2IP, PTK2B, FCN2, PTGES3, FGF2, ACKR1, DNM1L, SDC3, G6PD, GCHFR, ITM2B, CREBBP, MAP3K8, TRPM7, ADI1, MTCO2P12, UPK3B, ACTB, AKT1, AKT2, ANXA1, APBB1, DNLZ, STS, MIR34A, BRCA1, MIR137, C5AR1, DDR1, CAMK4, TMED10P1, MPEG1, C9orf72, ESCO1, CDCA5, PRRT2, MAP1LC3B, CAT, EHMT1, CNR2, SPPL2B, RAB9A, NRXN3, GFAP, SYNJ1, SERPINB5, CD99, MME, MNAT1, CCL2, RRAS, RPS27, RPS21, RAP1A, PYCR1, COX2, PTS, PTGS2, MTHFD1, MMUT, NCAM1, NFIA, NFIB, MAPK8, MAPK3, PRKCB, PRKCA, PPBP, MED1, NFIC, PPARA, NFIX, PKD1, NOTCH3, NRGN, MEOX2, MEF2A, SPRR2A, TTC3, GRIN2A, DENR, GRIN2B, RAB7A, LRP8, HPRT1, HSP90AA1, VIM, IDUA, UTRN, SUMO1, UBE2I, TTK, TPT1, SULT1E1, IL1A, IL6, IL12A, TSPAN6, TIE1, TGFB1, TG, KNG1, LAMC2, LGALS3, TERT, TERC, STIM1, H3P17
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Zellweger Spectrum Disorder
Gene_reviews
Severe ZSD Severe ZSD (previously called Zellweger syndrome [ZS]) typically presents in the neonatal period with profound hypotonia, characteristic facies, gyral malformations, seizures, inability to feed, renal cysts, hepatic dysfunction, and chondrodysplasia punctata. ... ZSD has also formerly been referred to as cerebrohepatorenal syndrome, generalized peroxisomal disorders, Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease (also known as infantile phytanic acid oxidase deficiency). ... Of note, although Heimler syndrome [Ratbi et al 2015, Ratbi et al 2016, Smith et al 2016] and ataxia (see Régal et al [2010], Renaud et al [2016]) have been reported as unique phenotypes associated with PEX gene defects, the authors consider them part of the ZSD continuum. ... ZSD in newborns is most often confused with other conditions that result in profound hypotonia including Down syndrome, other chromosome abnormalities, and the disorders summarized in Table 3. ... Pierce et al [2010], Lines et al [2014] Contiguous ABCD1 /DXS1375E deletion syndrome (CADDS). An increase in plasma VLCFA concentration consistent with a defect in peroxisomal fatty acid metabolism can also be observed in CADDS, a contiguous deletion syndrome with a critical region spanning ABCD1 and BCAP31 [Corzo et al 2002].
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Trigeminal Neuralgia
Wikipedia
TDP is very difficult to treat as further surgeries are usually ineffective and possibly detrimental to the person. [ citation needed ] Causes [ edit ] The trigeminal nerve is a mixed cranial nerve responsible for sensory data such as tactition (pressure), thermoception (temperature), and nociception (pain) originating from the face above the jawline; it is also responsible for the motor function of the muscles of mastication , the muscles involved in chewing but not facial expression. [ citation needed ] Several theories exist to explain the possible causes of this pain syndrome. It was once believed that the nerve was compressed in the opening from the inside to the outside of the skull; but leading research indicates that it is an enlarged or lengthened blood vessel – most commonly the superior cerebellar artery – compressing or throbbing against the microvasculature of the trigeminal nerve near its connection with the pons . [15] Such a compression can injure the nerve's protective myelin sheath and cause erratic and hyperactive functioning of the nerve. ... Chronic nerve entrapment results in demyelination primarily, with progressive axonal degeneration subsequently. [5] It is, "therefore widely accepted that trigeminal neuralgia is associated with demyelination of axons in the Gasserian ganglion , the dorsal root, or both." [19] It has been suggested that this compression may be related to an aberrant branch of the superior cerebellar artery that lies on the trigeminal nerve. [19] Further causes, besides an aneurysm, multiple sclerosis or cerebellopontine angle tumor, include: a posterior fossa tumor, any other expanding lesion or even brainstem diseases from strokes. [19] Trigeminal neuralgia is found in 3–4% of people with multiple sclerosis, according to data from seven studies. [20] [21] It has been theorized that this is due to damage to the spinal trigeminal complex . [22] Trigeminal pain has a similar presentation in patients with and without MS. [23] Postherpetic neuralgia , which occurs after shingles , may cause similar symptoms if the trigeminal nerve is damaged. [ citation needed ] When there is no [apparent] structural cause, the syndrome is called idiopathic . Diagnosis [ edit ] Trigeminal neuralgia is diagnosed via the result of neurological and physical tests, as well as the individual's medical history. [24] Management [ edit ] As with many conditions without clear physical or laboratory diagnosis, TN is sometimes misdiagnosed. ... MVD Surgery to ameliorate the pain on the right-hand side was performed at UCHL in December 2019. [53] See also [ edit ] Trigeminal trophic syndrome References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab "Trigeminal Neuralgia Fact Sheet" . ... Whiplash injuries : the cervical acceleration/deceleration syndrome (3rd ed.). Baltimore: Williams & Wilkins. p. 481. ... External links [ edit ] Trigeminal neuralgia at Curlie Trigeminal Neuralgia at NHS Choices Classification D ICD - 10 : G50.0 , G44.847 ICD - 9-CM : 350.1 MeSH : D014277 DiseasesDB : 13363 External resources MedlinePlus : 000742 eMedicine : emerg/617 v t e Diseases relating to the peripheral nervous system Mononeuropathy Arm median nerve Carpal tunnel syndrome Ape hand deformity ulnar nerve Ulnar nerve entrapment Froment's sign Ulnar tunnel syndrome Ulnar claw radial nerve Radial neuropathy Wrist drop Cheiralgia paresthetica long thoracic nerve Winged scapula Backpack palsy Leg lateral cutaneous nerve of thigh Meralgia paraesthetica tibial nerve Tarsal tunnel syndrome plantar nerve Morton's neuroma superior gluteal nerve Trendelenburg's sign sciatic nerve Piriformis syndrome Cranial nerves See Template:Cranial nerve disease Polyneuropathy and Polyradiculoneuropathy HMSN Charcot–Marie–Tooth disease Dejerine–Sottas disease Refsum's disease Hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsy Familial amyloid neuropathy Autoimmune and demyelinating disease Guillain–Barré syndrome Chronic inflammatory demyelinating polyneuropathy Radiculopathy and plexopathy Brachial plexus injury Thoracic outlet syndrome Phantom limb Other Alcoholic polyneuropathy Other General Complex regional pain syndrome Mononeuritis multiplex Peripheral neuropathy Neuralgia Nerve compression syndrome v t e Headache Primary ICHD 1 Migraine Familial hemiplegic Retinal migraine ICHD 2 Tension Mixed tension migraine ICHD 3 Cluster Chronic paroxysmal hemicrania SUNCT ICHD 4 Hemicrania continua Thunderclap headache Sexual headache New daily persistent headache Hypnic headache Secondary ICHD 5 Migralepsy ICHD 7 Ictal headache Post-dural-puncture headache ICHD 8 Hangover Medication overuse headache ICHD 13 Trigeminal neuralgia Occipital neuralgia External compression headache Cold-stimulus headache Optic neuritis Postherpetic neuralgia Tolosa–Hunt syndrome Other VascularMAPK3, MAPK1, CALCA, FOS, GFAP, GRIN1, IL1B, TNF, PRKCG, MAPK8, MAPK9, AIF1, CDK5R1, CDK5, SUFU, NF2, PRNP, SMARCB1, ERBB2, PDGFB, BRCA1, EGFR, ESR1, MS, CRLF1, GADL1, MVD, AZIN2, BMP2, MIR148A, MIR195, MIR324, MIR375, MALAT1, TP53, TP53BP1, TYR, AIMP2, TNFSF10, TIMP3, SNORD116@, CTAG1A, GRAP2, TRPM3, CASP8AP2, CAMKMT, FRTS1, TRPV4, TENM3, FEV, PPP1R2C, VGLL1, GPN3, TAZ, ANTXR2, RSS, CD274, PRIMA1, POLDIP2, RNF19A, PANX1, PPARGC1A, AHSA1, TG, ACLY, STAT3, CALM3, CTNNB1, CTAG1B, MAPK14, CRK, CPE, CHRM3, KRIT1, CALR, CALM2, SMS, CALM1, CAD, TSPO, BDNF, AR, ALB, JAG1, AFP, CYP3A4, DDX3X, DHCR24, FGF2, SLC6A4, PIM1, PARP1, SERPINE1, P2RX7, P2RX3, ORM2, NME1, NGFR, MYC, MUC1, MMP9, LBP, KRT14, JAK2, IL6, HLA-B, CD24
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Addison's Disease
Wikipedia
"Two Types of Autoimmune Addisonʼs Disease Associated with Different Polyglandular Autoimmune (PGA) Syndromes" . Medicine . 60 (5): 355–362. doi : 10.1097/00005792-198109000-00003 . ... PMID 23681421 . ^ "Autoimmune polyglandular syndrome type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... Retrieved 26 June 2017 . ^ "Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... "Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I" . Journal of Internal Medicine . 265 (5): 514–29. doi : 10.1111/j.1365-2796.2009.02090.x . ... Addison's disease at Curlie Classification D ICD - 10 : E27.1 - E27.2 ICD - 9-CM : 255.4 MeSH : D000224 DiseasesDB : 222 External resources MedlinePlus : 000378 eMedicine : med/42 Patient UK : Addison's disease v t e Adrenal gland disorder Hyperfunction Aldosterone Hyperaldosteronism Primary aldosteronism Conn syndrome Bartter syndrome Glucocorticoid remediable aldosteronism AME Liddle's syndrome 17α CAH Pseudohypoaldosteronism Cortisol Cushing's syndrome Pseudo-Cushing's syndrome Steroid-induced osteoporosis Sex hormones 21α CAH 11β CAH Hypofunction Aldosterone Hypoaldosteronism 21α CAH 11β CAH Cortisol CAH Lipoid 3β 11β 17α 21α Sex hormones 17α CAH Inborn errors of steroid metabolism Adrenal insufficiency Adrenal crisis Adrenalitis Xanthogranulomatous Addison's disease Waterhouse–Friderichsen syndrome 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 diseaseAIRE, CLEC16A, CIITA, ABCD1, ND6, TRNS2, TRNS1, TRNQ, TRNL1, TRNH, ND4, ND5, PEX1, ND1, MTHFR, COX3, COX2, COX1, TRNW, NR0B1, PEX6, PEX3, VANGL2, PEX26, MRPS7, TCTN3, PEX16, PEX11B, PEX5, HSD17B4, PEX2, PEX19, POMC, PEX14, PEX13, PEX12, PEX10, TRNF, HLA-DRB1, GLI3, RBM45, HLA-DQA1, NUDT10, NR3C1, CRH, HT, REN, PTPN22, MICA, STAR, CTLA4, NR5A1, TPO, SGPL1, VDR, TNF, NUDT11, CYP21A2, IFIH1, PRL, CYP11A1, HLA-DQB1, HLA-DQA2, MC2R, HLA-DOA, HLA-B, INS, GLUL, UGT2B28, CD14, NNT, VPS51, IL22, FOXP3, KLK3, SAMD9, SH2B2, ANGPT2, POLR3B, ANGPT1, BACH2, CXCL10, IL15, IL6, IL2RA, SUMO4, WG, CD226, CDKN1C, NCR1, GCG, GAD2, GNAO1, FGD1, FCGR3A, DDC, POLE, CYP27B1, GNAS, PROP1, GSTT1, ADAM3A, IFNA4, GZMB, CCL2, STAT4, TM7SF2, HLA-DPB1, HLA-DQB2, HSD11B1, HSPA4
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Vocal Cord Paresis
Wikipedia
Spinocerebellar Degeneration is usually an inherited progressive disease; however, toxicity and vitamin deficiency can result in the acquired type of cerebellar degeneration disease. [4] [3] [13] [6] Additionally, there are pieces of evidence that some Systemic Rheumatological Diseases such as sarcoidosis, rheumatoid, scleroderma can result in having VF paresis. [3] Cardiovascular [ edit ] A rare cause of vocal cord paresis that often presents itself as unexplained hoarseness is cardiovocal syndrome or Ortner's syndrome . Although it was originally identified in patients with left atrial enlargement , [14] the definition has expanded to include aneurysms of the aortic arch , [15] pulmonary hypertension due to mixed connective tissue disease , [16] or aberrant subclavian artery [17] syndrome among other causes of left recurrent laryngeal nerve palsy with cardiovascular origin. ... "Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature" . ... [in German]). ^ Al Kindi, Adil H.; Al Kindi, Faiza A.; et al. (October 2016). "Ortner's syndrome: Cardiovocal syndrome caused by aortic arch pseudoaneurysm" . ... Hirata et al, (2018) Cardiovocal syndrome (Ortner syndrome) associated with secondary pulmonary arterial hypertension in a patient with mixed connective tissue disease, Modern Rheumatology Case Reports, 2:1, 54-58 ^ Escribano, Josè F. Guijarro; Carnès, Jerûnimo; et al. (January 2006). "Ortner's Syndrome and Endoluminal Treatment of a Thoracic Aortic Aneurysm: A Case Report".
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Cholecystitis
Wikipedia
External links [ edit ] Classification D ICD - 10 : K81 ICD - 9-CM : 575.0 , 575.1 MeSH : D002764 DiseasesDB : 2520 External resources MedlinePlus : 000264 eMedicine : med/346 v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum Authority control NDL : 00572671ABCB4, ACVRL1, F5, PSAP, SMAD4, JAK2, HK1, GPI, GDF2, TPI1, PKLR, PNPLA2, ENG, BPGM, ARSA, ALDOA, TP53, GCG, CHDH, CXCL16, RCBTB1, ABCG8, SSBP2, MUC16, EHMT1, IL33, WIF1, BTBD8, GOLGA6A, GGTLC5P, GGTLC3, GGT2, OPN1MW2, GGTLC4P, TBC1D9, ADAM17, SLC9A3R1, GPT, RUNX3, CMM, CTLA4, ESR1, OPN1MW, GGT1, GLP1R, MYBL2, GLP2R, ABCB1, S100A8, AGA, TRAF3, VEGFA, PSCA, CLDN2, OPN1MW3
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Oral Pigmentation
Wikipedia
They are more often found in females than males [6] and the typical age at presentation is 40 years although they can appear at any age. [3] Contents 1 Causes 1.1 Racial pigmentation 1.2 Black hairy tongue 1.3 Amalgam tattoo 1.4 Peutz–Jeghers syndrome 1.5 Addison's disease 1.5.1 Systemically oral melanosis can also be associated with the following; 1.6 Kaposi's sarcoma 1.7 Smoker's melanosis 1.8 Oral melanoacanthoma 1.9 Melanocytic nevi 1.10 Melanotic macules 1.11 Oral melanoma 2 Pathogenesis 2.1 Physiological 2.2 Peutz-Jeghers syndrome 2.3 Addison’s disease 2.4 Smoker’s melanosis 2.5 Oral melanoacanthoma 2.6 Melanocytic nevi 2.7 Oral melanoma 3 Diagnosis 4 Management 4.1 Physiological oral pigmentation 4.2 Systemic conditions associated with oral pigmentation 4.3 Kaposi's sarcoma 4.4 Smoker's melanosis 4.5 Oral melanoma 5 Epidemiology 5.1 Physiological 5.2 Peutz Jeghers syndrome 5.3 Smokers melanosis 5.4 Melanotic macule 5.5 Oral melanoma 5.6 Cumulative frequency 6 See also 7 References Causes [ edit ] Racial pigmentation [ edit ] Oral pigmentation affects about 3% of the population [4] and is most likely seen in those with dark skin; [5] however people with light skin have, on average, 30 local pigmented areas and in some circumstances will present intra-orally. ... These deposits become blackened and can lead to blackening of the adjacent bone. [8] Peutz–Jeghers syndrome [ edit ] The autosomal dominant disorder Peutz–Jeghers syndrome is characterized by ‘intestinal hamartomatous polyps in association with mucocutaneous melanocytic macules’. ... The extent of oral involvement and degree of pigmentation varies between each individual case. [ citation needed ] An individual who has this syndrome has a relative risk fifteen times greater of developing cancer in comparison to the general population. [ citation needed ] In older patients, the main consequence of the syndrome is cancer. ... For Addison’s, the specific treatment option would be to treat with glucocorticoids and mineralocorticoids. [ citation needed ] Alternatively, the continuous exposure to high concentrations of corticosteroids increases susceptibility to Cushing’s syndrome which is also a cause of oral melanosis. ... The prevalence of melanocytic and non-melanocytic causes of oral melanosis was roughly 1:1. [42] [8] Physiological [ edit ] Oral pigmentation affects about 3% of the population [4] and is most likely seen in those with dark skin [5] Peutz Jeghers syndrome [ edit ] For Peutz Jeghers syndrome the frequency is approximately 1 case per 60,000-300,000 people in the USA.
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Bronchiectasis
Wikipedia
J.; Colby, T. V. (March 1995). "Middle lobe syndrome: a clinicopathological study of 21 patients". ... "The role of timely intervention in middle lobe syndrome in children". Chest . 128 (4): 2504–2510. doi : 10.1378/chest.128.4.2504 . ... "Bronchiectasis in primary Sjögren's syndrome: prevalence and clinical significance". ... J. (18–25 December 1993). "Was Young's syndrome caused by exposure to mercury in childhood?" ... PMID 13844857 . ^ Celik, Burcin; Bilgin, Salih; Yuksel, Canan (2011). "Mounier-Kuhn syndrome: a rare cause of bronchial dilation" .CFTR, SERPINA1, SCNN1B, SCNN1G, DNAH11, DNAI1, DNAH5, DNAAF1, PIK3R1, PIK3CD, NFKB2, NME8, CCDC40, SCNN1A, DNAI2, DNAL1, DNAAF2, RSPH9, RSPH4A, CCDC39, TNF, ICAM1, STAT1, TAP2, TAP1, TGFB1, TNFRSF13B, MUC5B, DNAAF3, ARHGEF1, TNFSF12, CCNO, FAM13A, ATP11A, LRRC6, DNAH1, RIPK1, CXCR4, DNAJB13, OFD1, USP11, BLNK, TERT, TERC, CCDC103, SFTPA1, TCF3, TAPBP, SPAG1, SFTPC, SFTPA2, STK36, PIH1D3, ICOS, STN1, CCDC151, TNFRSF13C, LRRC56, CCDC114, DNAAF4, DRC1, DPP9, RSPH1, CCDC65, CFAP300, ZNF341, RSPH3, TTC25, GAS2L2, CARMIL2, BACH2, CFAP298, LRRC8A, BTNL2, DNAH7, SLC29A3, COPD, ARMC4, DNAAF5, HYDIN, RTEL1, ZMYND10, MCIDAS, IL21R, ABCA3, RPGR, PRKCD, NFKB1, IGLL1, IGHM, IRF8, HLA-DRB1, PARN, GAS8, FCGR2A, ENG, PGM3, DSP, DNMT3B, CR2, LRBA, CD81, CD79B, CD79A, MS4A1, CD19, CD8A, BLM, B2M, ATM, NBN, MBL2, ELANE, CXCL8, MPO, IL17A, CALR, PLF, CRP, IL6, NTM, HLA-C, ELN, FOLH1, USO1, SEC14L2, ALB, MMP8, MMP9, NXF1, FLNB, MMP1, CTSB, SLC26A9, DIAPH1, G6PC3, PREP, PCBD1, PPARG, PDCD1, PRTN3, MUC2, PZP, CEL, STAT3, ADRB2, TRIM21, FCGRT, TNFRSF8, SGCA, SFTPD, RASA1, CAMP, CXCL12, CCL20, AVP, CCL17, TIMP3, RGMA, PARP9, RMRP, TRAF3IP2, SLC27A5, JMJD6, MUC5AC, LGALS9, PTPN22, LCN1, IL18, FLVCR1, IL13, IL10, MBL3P, FOXP3, ISYNA1, FCN2, IL23A, IL1B, IL1A, NHS, IFNG, CFI, NOS2, HOXB@, PAEP, HLA-B, RGS6, TLR2, FOXJ1, MICA
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Syne1 Deficiency
Gene_reviews
Most patients develop features of the cerebellar cognitive and affective syndrome (i.e., significant deficits in attention, executive functioning, verbal working memory, and visuospatial/visuoconstructional skills). ... Suggestive Findings SYNE1 deficiency should be suspected in individuals with a combination of the following clinical features and/or clinical syndrome based on age of onset. Clinical features Cerebellar ataxia Progressive ataxia of gait Clumsiness of hands Dysmetria Dysarthria Abnormalities in ocular saccades and smooth pursuit Upper and/or lower motor neuron involvement Spasticity, hyperactive deep tendon reflexes, extensor plantar response Muscle atrophy, diminished deep tendon reflexes, fasciculations Cognitive impairment Delayed motor milestones in infancy Intellectual disability Cognitive dysfunction typical of the cerebellar cognitive and affective syndrome (deficits in executive functioning, language, visuospatial/visuoconstructional skills) Skeletal involvement Scoliosis or kyphosis Pes cavus Arthrogryposis with distal joint contractures Clinical syndrome, defined according to age at onset: Neonatal onset. ... Cerebellar ataxia (ARCA1); cerebellar ataxia, frequent upper and/or lower motor neuron involvement, and cognitive impairment typical of the cerebellar cognitive and affective syndrome [Dupré et al 2007, Synofzik et al 2016] Electrophysiologic Studies Cerebellar ataxia Nerve conduction studies. ... The initial description of ARCA1 was that of a pure cerebellar syndrome characterized by cerebellar ataxia, dysarthria, dysmetria, and abnormalities in ocular saccades and smooth pursuit [Dupré et al 2007]. ... Individuals with SYNE1-deficient cerebellar ataxia show typical findings of the cerebellar cognitive and affective syndrome: significant deficits in attention, executive functioning, verbal working memory, and visuospatial/visuoconstructional skills [Laforce et al 2010, Mademan et al 2016].