��28��-��- – FindZebra Search

Advanced

Hidradenitis Suppurativa Wikipedia

A few popular antibiotics include tetracycline , minocycline , and clindamycin . [27] Topical clindamycin has been shown to have an effect in double-blind placebo controlled studies. [28] Corticosteroid injections. Also known as intralesional steroids: can be particularly useful for localized disease, if the drug can be prevented from escaping via the sinuses. ... Retrieved 27 October 2017 . ^ a b c d e f "Hidradenitis suppurativa" . rarediseases.info.nih.gov . 2017. Archived from the original on 28 July 2017 . Retrieved 27 October 2017 . ^ Jemec G, Revuz J, Leyden JJ (2006). ... ISBN 9783540331018 . Archived from the original on 28 October 2017. ^ Medline Plus (2012). ... "Hidradenitis suppurativa associated with use of oral contraceptives" . BMJ . 298 (6665): 28–9. doi : 10.1136/bmj.298.6665.28 .

NCSTN, PSENEN, NLRP3, MEFV, NOD2, PSTPIP1, GJB2, PSEN1, IL17A, TNF, HYOU1, KDF1, IL1B, IL1A, IFNG, CRP, IL23A, IL10, IL22, CXCL8, PAPPA, IL6, IL20, GLI3, IL36RN, IL17B, DCD, IL37, IL13, AGO1, YME1L1, ADIPOQ, IL32, ACAD8, ADM, SND1, AGO2, C5AR2, SULT1B1, KRT20, IL26, RETN, ELOVL7, IL1F10, MTDH, RBM45, TET3, IL1RL2, SAA1, TLR4, IFNA1, BCL2, CAMP, MS4A1, CD27, CHI3L1, CTNNB1, CTNND1, EPHB2, ERBB4, HLA-A, HLA-DRB1, IDH1, IDH2, IDH3B, IFNA13, TIE1, IL12RB1, ITGAL, ITGB2, KLRB1, LCN2, CYP4F3, NHS, P2RX7, PDE4A, ANXA5, SAA2, SULT1E1, TARBP2, TGFB1, MIR21
- Hidradenitis Suppurativa Mayo_clinic
  
  Overview Hidradenitis suppurativa (hi-drad-uh-NIE-tis sup-yoo-ruh-TIE-vuh), also known as acne inversa, is a condition that causes small, painful lumps to form under the skin. The lumps usually develop in areas where your skin rubs together, such as the armpits, groin, buttocks and breasts. The lumps heal slowly, recur, and can lead to tunnels under the skin and scarring. Hidradenitis suppurativa tends to start after puberty, usually before age 40. It can persist for many years and worsen over time. It can affect your daily life and emotional well-being.
Non-Alcoholic Fatty Liver Disease Wikipedia

Both correlate with NAFLD presence and severity, but their roles for diagnosis remain unclear. [18] [24] Although NAFLD has a genetic component, the American Association for the Study of Liver Diseases (AASLD) does not recommend screening family members as there is not enough confirmation of heritability, [4] although there is some evidence from familial aggregation and twin studies . [18] Diet [ edit ] According to the Asia-Pacific Working Group (APWG) on NAFLD, overnutrition is a major factor of NAFLD and NASH, particularly for lean NAFLD. [5] Diet composition and quantity, in particular omega-6 fatty acid and fructose , have important roles in disease progression from NAFL to NASH and fibrosis. [25] [26] Choline deficiency can lead to the development of NAFLD. [27] Pathophysiology [ edit ] The primary characteristic of NAFLD is the accumulation of lipids in the liver, largely in the form of triglycerides . [13] However, the mechanisms by which triglycerides accumulate and the reasons that accumulation can lead to liver dysfunction are complex and incompletely understood. [13] [28] [29] [30] NAFLD can include steatosis along with varied signs of liver injury: either lobular or portal inflammation (a form of liver injury) or ballooning degeneration . ... Although fibrosis improves with lifestyle interventions and weight loss, there is limited evidence for cirrhosis improvement. [5] [8] [51] [53] A combination of improved diet and exercise, rather than either alone, appears to best help manage NAFLD and reduce insulin resistance. [4] [9] [12] [54] [55] Motivational support, such as with cognitive behavioral therapy , is helpful, as most people with NAFLD do not perceive their condition as a disease, and thus have a low motivation to change. [4] [7] [10] [12] [28] Higher-intensity behavioral weight loss therapies (diet and exercise combined) may produce more weight loss than lower-intensity ones. ... Reviews reported the use of probiotics and synbiotics (combinations of probiotics and prebiotics ) were associated with improvement in liver-specific markers of hepatic inflammation, measurements of liver stiffness, and steatosis in persons with NAFLD. [65] [66] Physical activity [ edit ] Weight loss may improve NAFLD and is recommended particularly for obese or overweight people; [67] [68] [69] similar physical activities and diets are advisable for overweight people with NAFLD as for other obese and overweight people. [10] [55] Although physical activity is less important for weight loss than dietary adaptations (to reduce caloric intake), [28] the NICE advises physical activity to reduce liver fat even if there is no overall bodyweight reduction. [7] [10] Weight loss, through exercise or diet, is the most effective way to reduce liver fat and help NASH and fibrosis remission. [28] Exercise alone can prevent or reduce hepatic steatosis, but it remains unknown whether it can improve all other aspects of the liver; hence a combined approach with diet and exercise is advised. [4] [9] Aerobic exercise may be more effective than resistance training, although there are contradictory results. [7] [70] Vigorous training is preferable to moderate training, as only the high-intensity exercise reduced the chances of NASH developing into steatohepatitis or advanced fibrosis. [7] [71] The EASL recommends between 150 and 200 min/week in 3 to 5 sessions of moderate-intensity aerobic physical activity or resistance training. ... Bariatric surgery is an effective method for obese and diabetic individuals with NAFLD to induce weight loss and reduce or resolve NASH inflammation, including fibrosis, and improve longevity. [7] [8] [12] [28] [77] [78] For the AASLD, bariatric surgery can be considered only for NASH on a case-by-case basis by an experienced bariatric surgery program. [4] Indeed, some individuals might develop new or worsened features of NAFLD. [78] About 92% of people with NAFLD saw an improvement in steatosis and 70% a complete resolution after bariatric surgery. [79] A preoperative diet such as a low-calorie diet or a very-low-calorie diet is usually recommended to reduce liver volume by 16–20%. ... Thus, people suffering from NAFLD deserve consideration for treatment regardless of the presence or absence of obesity. [5] [18] [28] [88] In children ages 1 to 19, the prevalence was found to be approximately 8% in the general population up to 34% in studies with data from child obesity clinics. [100] The majority of cryptogenic cirrhosis is believed to be due to NASH. [5] NAFLD prevalence is expected to increase steadily, [101] from 25% in 2018 to a projected 33.5% of people with NAFLD globally in 2030, and from 20% to a projected 27% of those with NAFLD will progress to NASH. [102] History [ edit ] The first acknowledged case of obesity-related non-alcoholic fatty liver was observed in 1952 by Samuel Zelman. [103] [104] Zelman started investigating after observing a fatty liver in a hospital employee who drank more than twenty bottles of Coca-Cola a day.

TM6SF2, PNPLA3, NFE2L2, LEP, CYP2E1, PPARA, SIRT1, NR1H4, FGF21, ADIPOQ, PPARD, SREBF1, XBP1, LDLR, CAT, FAS, GNMT, CPT1A, PEMT, NR5A2, TGFB1, AHR, GSTP1, GSTM1, PRKCA, IL1A, JAK2, ACE, CD14, KLB, GSTT1, ALDH2, ABCC2, PTEN, PDK4, GSTA1, IL4, LIF, PRKCE, VLDLR, NQO1, PRKCD, FOLR2, EIF2AK1, TNFRSF1B, CYP17A1, CSF2, ALDH4A1, SCARB1, RDX, F2, STC2, LAMA1, IKBKG, CYP1A2, PRKACA, RAG2, B3GAT1, ALDH1B1, ADH1A, IL3, MMP1, ABCB4, TRIB3, ADH4, ADH1B, PRF1, SERPINB2, AHCY, ALDH1A1, GCKR, ATP5F1B, NCAN, PARVB, SAMM50, FDFT1, PTPRD, PLPP7, KRT18, MIR122, TLR4, ZNF512, IGF1, LEPR, MBOAT7, MIR21, SREBF2, CRP, MTTP, IL1B, SP4, ACTR5, IL6, CRACR2A, PRKAA2, SLC5A2, HFE, PRKAA1, COL13A1, GLP1R, GPT, GGT1, GCG, PPARG, PIK3CG, PIK3CD, PIK3CB, GATAD2A, OSBPL5, DPP4, RBP4, NLRP3, EHBP1L1, PIK3CA, SCD, FBL, ERBB4, DDX60L, SHBG, PWWP3A, PRKAB1, EHMT1, LIPA, APOC3, GGTLC3, CREB5, PPARGC1A, ZGLP1, GGTLC4P, CD36, SLC17A5, CNBP, XPR1, GGT2, TNF, FGF19, TP63, GGTLC5P, ALB, MIR34A, AHSG, GH1, GABPA, LBP, HAMP, FASN, REN, LGALS3BP, CCL2, FABP1, NR1H3, IL17A, MLXIPL, HSD17B13, HNF4A, CYP3A4, SIRT3, AGTR1, APOE, PON1, RARRES2, RETN, MTOR, LOC102724197, FETUB, UCP2, GGTLC1, NR0B2, DECR1, MTHFR, IL10, PCSK9, ACACA, TP53, ANGPTL8, SERPINE1, MIR192, SOD1, APOB, VDR, IRS2, HMGB1, LPL, RCBTB1, NR1I2, APRT, CNR1, SERPINA1, SOD2, TRIB1, FADS2, STAT3, IRS1, FOXO1, PPP1R3B, NR3C2, MFAP1, SELENOP, PLIN2, GOLGA6A, AKT1, PNPLA2, MIR33A, TXNIP, ABCD1, CYBB, HIF1A, FGL1, IL18, FLII, APP, SLC27A5, TNFSF10, APOA5, HSD11B1, TMC4, NRG4, IFNG, HP, CCR2, GCK, KLF6, CHPT1, ABCB11, EGFR, EPAS1, CASP1, MAP3K5, CETP, SPP1, FTO, VEGFA, IFNL3, CEBPA, FABP4, INSR, MIR29A, BGLAP, TLR2, COL1A1, MIR140, GDF15, CYP7A1, ABCA1, SMN2, ANPEP, ACLY, BCO2, SMN1, CXCL16, HMOX1, PRRT2, FST, NTS, NR1I3, TIMP2, TIMP1, CPT2, CMKLR1, HPGDS, MIR155, TERT, BMS1, NPC1L1, CTNNB1, GPX1, CYP4F3, SMUG1, BCL2A1, PARP1, MIR451A, BNIP3, NEAT1, MT1B, MMP2, OR10A4, PRL, MAPK8, MIR378A, NAMPT, SLC10A2, SAV1, AFP, BCO1, GIP, FGFR4, ARNTL, CXCL10, PRKCB, CAV1, AGER, BCL2, GOT2, DLAT, ADIPOR2, AGT, ACE2, GPBAR1, MMP13, CORIN, FAM3A, MC4R, YAP1, POSTN, ABCG5, IL25, MAS1, NLRC4, TLR6, MUC1, CCN4, CCN3, ADIPOR1, SCP2, TNFSF11, FAM3B, CCL20, LUC7L3, SELPLG, GDE1, HSD17B7, SLC2A1, SLC2A2, MLYCD, SLPI, TNFRSF11B, IL22, TRPV1, SPARC, SPTBN1, ATRNL1, STAT5A, STAT5B, TBK1, SETD2, TEK, PDLIM3, S100A8, ROCK1, SOCS1, UGT1A1, MYDGF, CCL27, ENPP1, MTMR11, PPIG, CD163, MEG3, NAT10, PTPA, ECD, USP10, SOCS3, SELENBP1, APLN, MAPK1, PRTN3, SIRT2, ELOVL2, RIPK1, PTGS1, PTPN1, LPIN1, MOK, CRNKL1, SPINK1, CEACAM1, CBR1, MIR375, CASP8, CASP3, FOXO3, FOS, CALCR, MIR146B, GC, GCGR, HCC, BCAT1, GLUL, NCF1, GPR119, AZGP1, BHLHE23, LYPLAL1, GRN, NR3C1, PDIA3, AVP, ATHS, ATF3, C1QTNF1, AR, MLKL, FCGR2B, FOXA1, FAT1, MIR20A, MIR222, MIR149, CYBA, CYP1A1, COX8A, MAP3K8, CYP2D6, MIR126, CHIT1, CES1, ENHO, IRGM, ATN1, PLIN5, FFAR4, ELANE, ELAVL2, CD68, SLC13A5, ESR1, ESRRA, CD5L, FNDC5, ACSL4, AQP9, MIR200C, HSP90AA1, STEAP4, ALPP, ALOX15, ALOX5, ALOX12, LCN2, LINC01672, CXCL8, FAS-AS1, IDH2, INS, ACOX1, ACACB, IGFALS, LECT2, DHRS11, ORAI1, HSPA1A, HSPA1B, GRK2, ASRGL1, PSC, ERLIN1, CXCR6, MIR331, TRPC4AP, PRPF31, RNF19A, CAMKK2, SIRT1-AS, EIF2AK4, WWTR1, TOR1AIP1, POLDIP2, MIR330, APPL1, TIPARP, OSBPL3, LINC01684, HULC, MIR30C1, FGF20, AHSA1, MIR206, MIR212, RBMS3, PRDX4, LNCARSR, MIR223, MIR23B, IL37, MIR24-1, MIR27A, NAAA, SORBS1, INTU, MIR27B, LOC110806263, MIR29B1, SIGLEC7, NOX1, MIR29B2, MIR29C, AATF, MIR30B, PRDX5, LATS2, MIR30C2, B4GALT1-AS1, TMEFF2, MIR367, PHLPP2, LOC100505909, MCF2L, TMED2, MIR1224, MPRIP, SLC27A2, LILRB4, SARM1, RIPK3, CD24, MIR190B, DKK1, TNFSF13B, SNHG20, ZHX2, MIR33B, MLXIP, MGLL, MIR590, DNLZ, VSIG4, ADAMTS13, MIR873, DUSP12, MIR205, OCLN, MIR193B, NMU, EBP, IFNL4, CISD2, IL17RA, TREH, YME1L1, MKRN1, DAPK2, MIR361, DDAH1, PARTICL, MMD, SRRM2, BRD4, ERVK-2, ANGPTL2, PLK4, HPSE, PGRMC1, SIRT4, MIR423, MIR20B, CRTC1, DUSP26, NOX4, MAT2B, ERBIN, PAG1, ACOT13, ZNF300, TIMD4, TBL1Y, WNT3A, FAM83A, MIR200B, LGALS14, UBQLN4, PNO1, CARD6, DGAT2, ADAMTS9, ALLC, TXNRD3, C1QTNF3, TWIST2, TRERF1, NLRP2, IFTAP, CHDH, FBXW7, CWF19L1, SLC47A1, CYP2R1, CPT1C, PPARGC1B, NADK2, FGFBP3, SLC38A8, PCBP4, MAK16, SMURF1, NCOA2, FRTS1, ELOVL6, WNK1, APOO, ARV1, GORASP1, XPO4, NSD1, ABCG8, NLRX1, KCTD17, TMBIM1, SMOC2, GSDMD, DHDDS, LRRC7, CIDEC, HKDC1, CPEB4, TRPV4, PGAP6, COASY, SPX, SESN2, TRAPPC9, ITCH, ANGPTL6, ARRDC3, SEMA6A, CHCHD6, ZFP90, CILP2, HJV, MIR142, MBTPS2, IRF2BP2, INSIG2, ABHD5, RTL1, C1QL3, LINC01194, MIR130A, MIR132, SOST, MIR136, MIR141, IL20, AACS, MIR143, ISYNA1, MIR144, MIR146A, DUOX2, SLC40A1, SLC2A8, DMGDH, CERS2, MIR150, MIR15B, MIR17, MIR185, REPIN1, CTNNA3, MYLIP, MOGAT3, CPP, APPL2, EGLN1, NUDT11, PDIK1L, PIWIL2, SIK1, SLC52A1, HORMAD2, SLC2A12, TMPRSS6, TET2, CROT, LINC01554, UNC5B, MARCHF8, UGT1A4, JAZF1, SIRT6, UGT1A6, UGT1A7, UGT1A8, UGT1A10, CCHCR1, ZBTB38, TREM1, BTBD8, DUOX1, BPIFA4P, HCAR2, C1QTNF9, ARID4B, STING1, ATG7, A2M, STK25, GCLC, FGF1, FGR, FOSB, FOSL2, G6PC, GALR1, GDNF, GPC3, GLB1, GLI2, SLC26A3, GLRX, GNA12, GNAI3, GNAO1, GPI, GPR31, FFAR2, GPS2, GSK3B, GPC4, FCGR3B, FCGR3A, FBN1, DUSP9, EDA, S1PR1, EEF1A1, EGF, EGR1, EIF4E, ENO3, EPHB2, EPHB6, EPO, ERN1, ESRRB, EZH2, F2RL1, FABP2, FABP5, ACSL1, PTK2B, GSTM2, H2AX, HADHB, IGF2, IGFBP2, IGFBP4, IGFBP7, IKBKB, IL2, CXCR2, INPP5D, INSIG1, IRF3, ITGAM, ITGB1, ITIH4, ITPR2, JAK1, JUN, JUNB, JUND, CD82, KRT8, IGFBP1, IFNA13, HADH, IFNA2, HCFC1, HLA-A, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DQB2, HLA-DRB1, NR4A1, FOXA2, HOXD13, HRG, PRMT1, HSPA4, HSPA5, HSPA8, HSPG2, HTR2A, TNC, IFNA1, DSPP, DPYSL3, LCP1, BMP4, ARG2, ARNT, ARRB1, ASNS, ATF4, BAAT, BAX, BCHE, BLVRA, BMP8B, DMD, TSPO, C3, CALCA, RUNX2, CCNC, CD44, CDC42, CDH1, CDK4, AREG, AQP7, KLK3, APOA2, ABO, ACAT1, ACTB, ADM, ADRB2, AEBP1, JAG1, AKT2, ALDOB, AKR1B1, AMD1, AMD1P2, ANGPT1, ANGPT2, AOX1, APOF, AIRE, XIAP, APOA1, CDK8, CDKN2A, CEL, CTNNA1, CTSB, CTSD, CTSG, CTSS, CYP2A6, CYP2B6, CYP2B7P, CYP2D7, CYP2J2, CYP4A11, CYP8B1, CYP19A1, CYP27B1, CYP51A1, DBP, DDOST, TIMM8A, DHCR7, DIO3, CTRL, CCN2, CHRM3, CTF1, CHUK, CIDEA, CLCN2, CNR2, COL3A1, SLC31A1, CP, CPN1, CPOX, CPS1, CREB1, ATF2, CREBBP, CRK, CRMP1, MAPK14, CSF3, CSF3R, CTAA1, LCAT, LGALS3, CAP1, VEGFC, UCP1, UCP3, SLC35A2, UGT1A, UGT2B4, USP4, UROD, UTRN, VCAM1, VIP, STAT1, BEST1, YY1, ZBTB16, LAP, PLA2G7, TFEB, AIMP2, STAM, FOSL1, TRAF3, TPO, TP53BP1, TNFRSF1A, SULT1E1, STK11, SYT1, ADAM17, MAP3K7, TAZ, TCF7L2, TFAM, TFF3, TG, TGFB1I1, THRSP, TIMP3, TLL1, TLR1, NR2E1, TM7SF2, TMPO, TNFAIP3, FGF23, SLC7A5, BAS, TMPRSS11D, GGPS1, ATG5, LITAF, CLOCK, ABCG1, KEAP1, PLPPR4, MFN2, PARP2, DNM1L, PPIF, LRPPRC, SLC25A13, PRMT3, PLIN3, FSTL3, ZNF267, AKR1A1, MERTK, EIF2AK3, GRAP2, PLA2G6, COX5A, PIK3R3, CYP4F2, DENR, RTCA, DGAT1, ABCC3, MBTPS1, TNFSF14, DLK1, TRIM24, CES2, HDAC3, SQSTM1, MBD2, CCRL2, MYOM2, HACD1, NOG, GLP2R, STAT6, STAR, LIPE, P2RX5, NBN, NEU1, NHS, NNMT, NOS2, NOS3, NOTCH1, NRF1, NUCB2, P4HA1, AKR1D1, PAPPA, PC, PCK1, PDGFRB, SERPINA4, SERPINB6, PIGR, PITX3, PKM, HNRNPM, MYD88, MYC, ND6, FADS1, LNPEP, LOXL2, LRP6, LTF, LUM, SMAD7, MAT1A, DNAJB9, MEFV, MET, MIF, CXCL9, MMP9, MPI, MPO, MPST, MRC1, MST1, PKNOX1, PLCG1, PLG, CCL19, SELL, SELP, SETMAR, SFRP4, SFRP5, SRSF3, ST3GAL4, SLC2A4, SLC3A2, SLC6A2, SLC10A1, SLC13A1, SMPD1, SIGLEC1, SNAI1, SORD, SP1, SPRR2A, SQLE, CXCL5, CCL17, PLTP, CCL5, PMCH, PPP1R3C, PRKDC, MAPK3, MAP2K7, PRLR, PTBP1, PTGFRN, PTPN6, PTPRC, PTX3, RARA, OPN1LW, RELA, RLN2, BRD2, RPS6KB1, SORT1, S100A4, H3P10
- Nonalcoholic Fatty Liver Disease Mayo_clinic
  
  Overview Nonalcoholic fatty liver disease (NAFLD) is an umbrella term for a range of liver conditions affecting people who drink little to no alcohol. As the name implies, the main characteristic of NAFLD is too much fat stored in liver cells. NAFLD is increasingly common around the world, especially in Western nations. In the United States, it is the most common form of chronic liver disease, affecting about one-quarter of the population. Some individuals with NAFLD can develop nonalcoholic steatohepatitis (NASH), an aggressive form of fatty liver disease, which is marked by liver inflammation and may progress to advanced scarring (cirrhosis) and liver failure.
Neuronal Ceroid Lipofuscinosis Wikipedia

Preliminary results report the drug has completely cleared away storage material from the white blood cells of the first six patients, as well as slowing down the rapid neurodegeneration of infantile NCL.Currently, two drug trials are underway for infantile NCL, both using Cystagon. [ citation needed ] Gene therapy [ edit ] A gene therapy trial using an adenoassociated virus vector called AAV2CUhCLN2 began in June 2004 in an attempt to treat the manifestations of late infantile NCL. [25] The trial was conducted by Weill Medical College of Cornell University [25] and sponsored by the Nathan's Battle Foundation. [26] In May 2008, the gene therapy given to the recipients reportedly was "safe, and that, on average, it significantly slowed the disease's progression during the 18-month follow-up period" [27] and "suggested that higher doses and a better delivery system may provide greater benefit". [28] A second gene therapy trial for late infantile NCL using an adenoassociated virus derived from the rhesus macaque (a species of Old World monkey ) called AAVrh.10 began in August 2010, and is once again being conducted by Weill Medical College of Cornell University. [28] Animal models of late infantile NCL showed that the AAVrh.10 delivery system "was much more effective, giving better spread of the gene product and improving survival greatly". [28] A third gene therapy trial, using the same AAVrh.10 delivery system, began in 2011 and has been expanded to include late infantile NCL patients with moderate tosevere impairment or uncommon genotypes, and uses a novel administration method that reduces general anesthesia time by 50% to minimize potential adverse side effects. [29] Flupirtine [ edit ] Flupirtine A painkiller available in several European countries, flupirtine , has been suggested to possibly slow down the progress of NCL, [30] particularly in the juvenile and late infantile forms. ... Db=gene&Cmd=ShowDetailView&TermToSearch=5538&ordinalpos=28&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum ^ a b Sharp, J.; et al. (1997).

TPP1, CLN6, CLN3, CLN8, PPT1, MFSD8, CLN5, ATP13A2, KCTD7, ARSG, CTSD, PPT2, CLCN3, CLCN6, DNAJC5, GRN, FBXL3, NCL, CTSF, ATP5MC1, TARDBP, CAPN3, CLN9, PSAP, CPQ, AGER, TMEM106B, TBCK, SLC39A7, ZDHHC15, CAPN8, TFEB, PPP5C, TAC1, SOD2, CALD1, DPYSL2, GAD1, GAD2, KCNMA1, LGALS1, MAS1, MECP2, TRPM1, PKD1, POLG, POU4F1, APP, MAPK13, SNCA, PRCD
- Neuronal Ceroid Lipofuscinosis Gard
  
  Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. Although the NCLs were historically classified according to their age of onset and clinical symptoms, the most recent classification system is primarily based on their underlying genetic cause . Most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form ( neuronal ceroid lipofuscinosis 4B ). Treatment options are limited to therapies that can help relieve some of the symptoms.
- Ceroid Lipofuscinosis, Neuronal, 10 Omim
  
  A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-10 (CLN10) is caused by homozygous or compound heterozygous mutation in the cathepsin D gene (CTSD; 116840) on chromosome 11p15. Description The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730). Clinical Features Steinfeld et al. (2006) identified a patient with cathepsin D deficiency in a group of 25 infants and children with a nonidentified genetic cause of a CLN-like disorder.
- Congenital Neuronal Ceroid Lipofuscinosis Orphanet
  
  Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy. Epidemiology It is a rare form of NCL with only around 10 cases reported in the literature so far. Clinical description Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. The seizure activity may be noted before birth as unusually strong fetal movements. Etiology CNCL is transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10 ; 11p15.5) encoding the lysosomal enzyme cathepsin D.
- Neuronal Ceroid Lipofuscinosis Orphanet
  
  Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. Epidemiology The exact prevalence and incidence of this group of disorders are unknown. Clinical description The clinical presentation varies widely between forms but the clinical hallmark is a combination of dementia, visual loss, and epilepsy. Manifestations may begin between the neonatal period and young adult age depending on the form, leading to the original classification of NCLs by age at onset into congenital, infantile, late infantile, juvenile and adult NCL subgroups (see these terms). A Northern epilepsy variant (progressive epilepsy-intellectual deficit, Finnish type; see this term), in which the visual problems may be absent or be mild and go unrecognized, has also been described.
Ceroid Lipofuscinosis, Neuronal, 2 Omim

Seitelberger et al. (1957) collected 28 cases from the world's literature. ... In total, 52 patients from 34 families were identified clinically. Of the 28 families with available DNA, 18 had 5 different mutations in the CLN2 gene (see, e.g., 607998.0007).

TPP1, CLN6, CLN3, MFSD8, ATP13A2, CLN5, CLN8, PPT1, CLCN3, CLCN6, CTSD, NCL, ATP5MC1, TPP2, TTPA, CPQ, NEFL, ACD, AAVS1
- Ceroid Lipofuscinosis, Neuronal, 1 Omim
  
  A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-1 (CLN1) is caused by homozygous or compound heterozygous mutation in the gene encoding palmitoyl-protein thioesterase-1 (PPT1; 600722) on chromosome 1p34. Description The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles.
- Cln2 Disease Medlineplus
  
  CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, and speech development.
- Ceroid Lipofuscinosis, Neuronal, 6 Omim
  
  A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-6 (CLN6) is caused by homozygous or compound heterozygous mutation in the CLN6 gene (606725) on chromosome 15q23. Description The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN6 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative disorder without retinal involvement.
- Ceroid Lipofuscinosis, Neuronal, 8 Omim
  
  Topcu et al. (2004) reported the so-called Turkish variant of late-infantile CLN in 17 of 28 Turkish patients. Most of the families were consanguineous.
- Jansky–bielschowsky Disease Wikipedia
  
  Jansky–Bielschowsky disease Jansky–Bielschowsky disease is inherited in an autosomal recessive manner Specialty Medical genetics Jansky–Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis (NCL) family of neurodegenerative disorders. It is caused by the accumulation of lipopigments in the body due to a deficiency in tripeptidyl peptidase I as a result of a mutation in the TPP1 gene. [1] Symptoms appear between ages 2 and 4 and consist of typical neurodegenerative complications: loss of muscle function ( ataxia ), drug resistant seizures ( epilepsy ), apraxia , development of muscle twitches ( myoclonus ), and vision impairment. [1] This late-infantile form of the disease progresses rapidly once symptoms are onset and ends in death between age 8 and teens. [1] The prevalence of Jansky–Bielschowsky disease is unknown, however NCL collectively affects an estimated 1 in 100,000 individuals worldwide. [2] Jansky–Bielschowsky disease is related to late-infantile Batten disease and LINCL [ citation needed ] , and is under the umbrella of neuronal ceroid lipofuscinosis . [2] Contents 1 Signs and symptoms 2 Pathology 3 Diagnosis 4 Treatment 5 Eponym 6 References 7 External links Signs and symptoms [ edit ] This section is empty. You can help by adding to it . ( May 2017 ) Pathology [ edit ] The majority of cases are a result of mutations in the TPP1 gene, however mutations in the CLN5 , CLN6 , CLN8 , MFSD8 , and PPT1 genes also account for a small number of cases. [3] These mutations result in reduced activity of peptidase enzymes, particularly affecting lysosomes , but other mutations can affect protein catabolism in white blood cells , fibroblasts , and chorionic villi . [2] The reduced function of these enzymes results in insufficient or incomplete breakdown of proteins, consequently resulting in the buildup of lipopigments in the lysosome. Though the accumulation of lipopigments occurs throughout the body, neurons are especially vulnerable to damage by lipopigment aggregation; a ubiquitous accumulation in lipopigments occurs in neurons , primarily concentrated in the cerebral and cerebellar cortices. [4] This accumulation results in atrophy in these regions of the brain, and cause the pathogenesis of signs and symptoms of Jansky–Bielschowsky disease. Currently, it is unclear what mechanism in relation to enzyme activity is responsible for the buildup of lipoproteins. [2] Diagnosis [ edit ] Diagnosis of Jansky–Bielschowsky disease is increasingly based on assay of enzyme activity and molecular genetic testing.
- Late Infantile Neuronal Ceroid Lipofuscinosis Orphanet
  
  Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. Epidemiology LINCLs have been reported in populations with diverse ethnic origins with the highest prevalence being reported in Finland (around 1/385,000), estimates of below 1/1,000,000 in other Scandinavian counties and an annual incidence at birth of at least 1/200,000 in Germany. Clinical description The initial clinical symptoms are motor or/and cognitive decline or epilepsy but the mean age of onset and speed of progression may vary depending on the underlying genetic defect. Patients with classic LINCL generally present with a standstill of mental development or the onset of severe epilepsy around the third year of life. The disorder progresses to complete loss of almost all motor and mental capacities before school age.
- Ceroid Lipofuscinosis, Neuronal, 7 Omim
  
  Clinical Features Topcu et al. (2004) reported the so-called Turkish variant of late-infantile CLN in 17 of 28 Turkish patients. Most of the families were consanguineous.
- Ceroid Lipofuscinosis, Neuronal, 5 Omim
  
  A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-5 (CLN5) is caused by homozygous or compound heterozygous mutation in the CLN5 gene (608102) on chromosome 13q22. Description The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).
Episodic Ataxia, Type 1 Omim

McGuire et al. (1984) described the syndrome of continuous muscle fiber activity in a 3-year-old boy and his 28-year-old mother. The boy had shown persistent fisting from the age of 4 months. ... She was still taking phenytoin at age 28 and showed toxic effects with a serum level of 36 mg/L.

KCNA1
- Hereditary Continuous Muscle Fiber Activity Orphanet
  
  Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.
Sirenomelia Wikipedia

Other hypotheses involve an insult to the embryo between 28–32 days affecting the caudal mesoderm , a teratogen exposure affecting the neural tube during neurulation , and a defect in the twinning process that either stops the process of caudal differentiation or generates a second primitive streak . [1] Maternal diabetes mellitus has been associated with caudal regression syndrome and sirenomelia, [5] [6] although a few sources question this association. [7] Prenatal cocaine exposure has also been suggested as an association with sirenomelia. [1] Genetics [ edit ] In animal models, several genes have been found to cause or be associated with sirenomelia. ... (Tweet) – via Twitter . ^ a b " " Mermaid" girl takes first steps" . BBC News. 28 September 2006. ^ a b " " Mermaid" girl's legs separated" .

AKT1, PTEN, RET, ITGA8, FGF20, DACT1, TBC1D24, GREB1L, BMP7, CYP26A1, SGPL1
- Sirenomelia Gard
  
  Sirenomelia is a birth defect in which affected infants are born with a single lower extremity or with two legs that are fused together. The symptoms and physical findings associated with the condition vary greatly among affected individuals and may include malformations of the spine and skeletal system (commonly with vertebrae either absent or defective); absent or underdeveloped internal and external sex organs, rectum, kidneys and/or bladder; closed rectal opening (imperforate anus); and other abnormalities of the lower gastrointestinal tract. The exact cause is unknown, but it is believed to result from irregularities in early development of the blood circulating system within the embryo. Surgery has been successful in separating joined legs. Other treatment is symptomatic and supportive.
- Sirenomelia Orphanet
  
  Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.
- Sacral Defect With Anterior Meningocele Omim
  
  The condition appeared in a man with 4 children who were all affected, and thereafter, to varying degrees, in 17 of his 28 descendants. The authors suggested autosomal dominant inheritance.
Noma (Disease) Wikipedia

Archived from the original on 2007-05-28 . Retrieved 2007-07-12 . ^ Srour ML, Marck K, Baratti-Mayer D (February 2017). ... PMID 10522217 . ^ Fondation Winds of Hope ^ Medical care Archived 2009-04-28 at the Wayback Machine at Project Harar ^ "Make Me a New Face: Hope for Africa's Hidden Children" .
- Noma Orphanet
  
  Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face. Epidemiology Its exact prevalence is unknown. The disease was present in the Western world up until the start of the 20th century, but it now mainly affects children between 2 and 6 years of age living in the poorest regions of the world. Rare cases of noma have been described in adults with severe immunodeficiency (individuals with AIDS or myelopathy, or those being treated with immunosuppressants) in Africa and in the Western world. Clinical description In addition to the severe facial destruction, children with noma often present with rhinolalia aperta, uncontrollable drooling, and socially handicapping halitosis. The most debilitating sequela is permanent jaw constriction. Spontaneous resolution of the disease is associated with the formation of extremely dense and fibrous scars that may lead to osseous ankylosis between the mandible and maxilla or the mandible and the malar bone.
Irlen Syndrome Wikipedia

Archived from the original on 25 January 2014 . Retrieved 2014-03-28 . CS1 maint: archived copy as title ( link ) ^ "Archived copy" . Archived from the original on 25 January 2014 . Retrieved 2014-03-28 . CS1 maint: archived copy as title ( link ) ^ "Society for Coloured Lens Prescribers" . www.s4clp.org . ^ "The University of Newcastle, Australia" . www.newcastle.edu.au . 13 November 2015.

RHO, APOB
Shoulder Dystocia Wikipedia

Archived from the original on 2007-10-08 . Retrieved 2007-11-28 . ^ Baxley EG, Gobbo RW (April 2004). ... PMID 15086043 . ^ "Fetal Dystocia: Abnormalities and Complications of Labor and Delivery: Merck Manual Professional" . Retrieved 2007-11-28 . ^ Murray, Michelle; Huelsmann, Gayle (2008-12-15).
2011 Turkish Riviera Mass Alcohol Poisoning Wikipedia

Three women died, others were hospitalized in Antalya and Denizli , with six placed in intensive care stations in critical condition. [2] [3] [4] On May 30, Marina Sheveleva ( Russian : Марина Шевелева ), born in 1989, died as the first victim at a hospital in her country, after her condition worsened during the flight to Moscow . [1] [6] [7] Two other Russian citizens, Maria Shalyapina ( Russian : Мария Шаляпина ), born in 1983, and Aigul Zalayeva ( Russian : Айгуль Залаева ), born in 1991, died in the following days at the hospital of Akdeniz University in Antalya. [6] [7] On the night of June 5, 2011, 28-year-old Alexandr Zhuchkov ( Russian : Алекса́ндр Жучков ) died in the hospital of Pamukkale University in Denizli, where he had been in intense supportive care since May 28.
Influenza-Like Illness Wikipedia

Archived from the original on 10 February 2009 . Retrieved 28 April 2009 . ^ Moore C, Corden S, Sinha J, Jones R (November 2008). ... "Dosing regimens and main adverse events of bisphosphonates". Semin Oncol . 28 (4 Suppl 11): 49–53. doi : 10.1016/S0093-7754(01)90232-5 .

BATF2, ZMYND10, PER2, PDR, NAT2, LTA, FRMD7, HPGDS, VEGFA, PRKCD, INSRR, CSF2, IL13, IL10, IL4, IL3, GSTP1, CXCL1, FLNA, EGF, CCR2
Fistula Wikipedia

(subscription required) ^ a b c d "Definition of Fistula" . www.merriam-webster.com . Retrieved 28 December 2020 . ^ a b c d e f "What Is A Fistula? ... Urinary incontinence education; National Association for Continence . Retrieved 28 December 2020 . ^ Garefalakis, Maria; Hickey, Martha; Johnson, Neil (2016).

LAMC2, CSF2, TNF, NOD2, AKT1, CRP, ALB, IL6, IL10, IL13, TGFB1, SULT1E1, A1BG, SST, SNAI1, ZIC2, SLC22A4, SLC25A1, RASA1, RAF1, SLC22A5, TBC1D9, ZHX2, MIXL1, C20orf181, MIR340, DNAAF3, PTCRA, IL23R, ACCS, TET1, DKK1, MYH14, ACSS2, DNAI1, PLA2G15, ATP6V0A2, MAPK3, PTS, PCBD1, PLEC, F11, B2M, TSPO, CAV1, CHRM3, MAP3K8, SLC25A10, CTF1, CTLA4, ACE, DNAH5, DPEP1, EFNB2, ETS1, FAAH, ABCB1, GH1, HNF4A, HSPA1B, HSPA5, IGFBP3, IL17A, MMP2, MMP3, MMP9, NF1, NHS, PCNT, PCYT1A, CERNA3
Obesity In India Wikipedia

Due to genetic tendency of Indians towards abdominal obesity and its associated risk of related lifestyle diseases such as diabetes and heart disease , guidelines for diagnosis of obesity and abdominal obesity for India have been published in JAPI (2009) that a BMI over 23 kg/m2 is considered overweight. [5] Further definitions: Normal BMI: 18.0-22.9 kg/m2, Overweight: 23.0-24.9 kg/m2, Obesity: >25 kg/m2. [5] Contents 1 NFHS data 2 See also 3 References 4 Further reading NFHS data [ edit ] This is a list of the states of India ranked in order of percentage of people who are overweight or obese , based on data from the 2007 National Family Health Survey. [6] States Males (%) Males rank Females (%) Females rank India 12.1 14 16 15 Delhi 45.5 - 49.8 - Punjab 30.3 1 37.5 1 Kerala 24.3 2 34 2 Goa 20.8 3 27 3 Tamil Nadu 19.8 4 24.4 4 Andhra Pradesh 17.6 5 22.7 5 Sikkim 17.3 6 21 6 Mizoram 16.9 7 20.3 7 Himachal Pradesh 16 8 19.5 8 Maharashtra 15.9 9 18.1 9 Gujarat 15.4 10 17.7 10 Haryana 14.4 11 17.6 11 Karnataka 14 12 17.3 12 Manipur 13.4 13 17.1 13 Uttarakhand 11.4 15 14.8 14 Arunachal Pradesh 10.6 16 12.5 15 Uttar Pradesh 4.9 17 12 16 Jammu and Kashmir 8.7 18 11.1 17 Bihar 8.5 19 10.5 18 Nagaland 8.4 20 10.2 19 Rajasthan 8.4 20 9 20 Meghalaya 8.2 22 8.9 21 Odisha 6.9 23 8.6 21 Assam 6.7 24 7.8 23 Chhattisgarh 6.5 25 7.6 27 West Bengal 6.1 26 7.1 25 Madhya Pradesh 5.4 27 6.7 26 Jharkhand 5.3 28 5.9 27 Telangana 5.2 29 5.3 28 Tripura 5.1 30 5.2 29 See also [ edit ] Malnutrition in India References [ edit ] ^ "India facing obesity epidemic: experts" .
Menkes Disease Wikipedia

"Screening for Menkes disease using the urine HVA/VMA ratio" . J. Inherit. Metab. Dis . 28 (1): 89–93. doi : 10.1007/s10545-005-5083-6 . ... "A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis" . J. Inherit. Metab. Dis . 28 (4): 473–8. doi : 10.1007/s10545-005-0473-3 .

ATP7A, CP, LOX, PGK1, ATP7B, ATOX1, CD38, DBH, MUC2, PART1, MKNK1, PTN, PAM, GYPA, GYPB, GCK, FBN2, DNAH8, CXCR5, COMMD1
- Menkes Disease Omim
  
  Moore and Howell (1985) found pili torti in all affected males and in 43% of 28 obligate carriers or females at risk.
- Menkes Disease Orphanet
  
  A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair. Epidemiology Prevalence at birth is estimated at 1/300,000 and 1/360,000 in Europe and Japan, respectivley. In Australia, the birth prevalence is much higher (1/50,000-100,000), likely due to a founder effect. The disorder is X-linked and thus primarily affects males. Clinical description Menkes disease (MD) manifests in the neonatal period. Most patients are born at term with appropriate birth measurements. Cephalohematomas and spontaneous fractures are occasionally observed at birth.
- Menkes Disease Gard
  
  Menkes disease (MD) is an inherited condition that impacts the way the body processes copper levels in the body. MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. Symptoms of MD usually appear within the first few months of life and include sparse, kinky hair; slow growth (failure to thrive); and seizures. Additional features may include low muscle tone (hypotonia), sagging facial features, and developmental and intellectual disability. Most children with MD have severe symptoms that lead to death at an early age.
- Menkes Syndrome Medlineplus
  
  Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals.
Clinical Vampirism Wikipedia

London Review of Books (book review). Vol. 28 no. 16. pp. 23–26. Archived from the original on 9 June 2013 . ... Archived from the original on 2008-02-28 . Retrieved 2007-12-18 . Kenny Valdez is in the Seclusion Room, strapped to a bed in a five-point restraint system, claiming he can "smell it!"
Alexander Disease Wikipedia

Archived from the original on 2010-04-28 . Retrieved 2010-06-14 . CS1 maint: archived copy as title ( link ) ^ a b c "Mutation in common protein triggers tangles, chaos inside brain cells" . news.wisc.edu . ... "Alexander's disease: reassessment of a neonatal form". Childs Nerv Syst . 28 (12): 2029–31. doi : 10.1007/s00381-012-1868-8 .

GFAP, DES, CRYAB, HSPB2, HSPB3, HSPB1, NFE2L2, GABPA, TARDBP, SYNM, WDHD1, BTG3, TRH, SNCA, SLC1A2, PLEC, AVP, KRT8, ITPR2, CASP3, MTOR, MAPK14, COL4A1, CHI3L1, CD38, CASP6, HSPB8
- Alexander Disease Omim
  
  Li et al. (2006) determined that the paternal chromosome carried the GFAP mutation in 24 of 28 unrelated cases of Alexander disease analyzed, suggesting that most mutations occur during spermatogenesis rather than in the embryo.
- Alexander Disease Type Ii Orphanet
  
  An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. Epidemiology Prevalence is unknown. It accounts for approximately 40% of AxD cases. Clinical description AxD type II can present throughout life, most commonly in late adolescence or adulthood (over the age of 12) and more rarely in childhood, with the age of onset ranging from 4-62 in published cases. It presents most commonly with bulbar symptoms (dysarthria, dysphonia, dysphagia), pyramidal signs and gait difficulties due to ataxia and/or spastic paraparesis. Unlike AxD type I (see this term), seizures are rarely seen and cognitive impairment is sometimes absent.
- Alexander Disease Type I Orphanet
  
  An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. Epidemiology The prevalence is unknown. This form accounts for approximately 60% of AxD cases. Clinical description AxD type I typically presents between birth and the age of 4. Those with a neonatal onset (within the first 30 days) usually have a more severe disease course presenting with symptoms of generalized, frequent, and often intractable seizures, aqueductal stenosis (leading to hydrocephalus with raised intracranial pressure) and severe motor and intellectual disability. In infantile-onset cases, ataxia, hyperreflexia and pyramidal signs are seen along with seizures.
- Alexander Disease Orphanet
  
  A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. Epidemiology The prevalence is unknown. One population based study in Japan estimated an annual incidence of 1/ 2.7 million. Clinical description The clinical presentation depends on the subtype. Previously, AxD was classified either as infantile, juvenile or adult, based simply on age of onset. The currently used classification system is based on a constellation of clinical and radiologic features and includes AxD type I and AxD type II (see these terms).
- Alexander Disease Gard
  
  Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form). Symptoms of the infantile form include an enlarged brain and head, seizures, stiffness in the arms and/or legs, intellectual disability, and delayed physical development. Less frequently, onset occurs later in childhood (the juvenile form) or adulthood. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, and poor coordination.
- Alexander Disease Gene_reviews
  
  Summary Clinical characteristics. Alexander disease, a progressive disorder of cerebral white matter caused by a heterozygous GFAP pathogenic variant, comprises a continuous clinical spectrum most recognizable in infants and children and a range of nonspecific neurologic manifestations in adults. This chapter discusses the spectrum of Alexander disease as four forms: neonatal, infantile, juvenile, and adult. The neonatal form begins in the first 30 days after birth with neurologic findings (e.g., hypotonia, hyperexcitability, myoclonus) and/or gastrointestinal manifestations (e.g., gastroesophageal reflux, vomiting, failure to thrive), followed by severe developmental delay and regression, seizures, megalencephaly, and typically death within two years. The infantile form is characterized by variable developmental issues: initially some have delayed or plateauing of acquisition of new skills, followed in some by a loss of gross and fine motor skills and language during in the first decade or in others a slow disease course that spans decades. Seizures, often triggered by illness, may be less frequent/severe than in the neonatal form.
- Alexander Disease Medlineplus
  
  Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired. Most cases of Alexander disease begin before age 2 and are described as the infantile form.
Neurogenic Inflammation Wikipedia

Smith, "Preventive treatment of migraine in adults" UpToDate 2019 [25] Additional CGRP blockers are progressing through clinical trials. [26] Anticipating later botox therapy for migraine, early work by Jancsó et al. found some success in treatment using denervation or pretreatment with capsaicin to prevent uncomfortable symptoms of neurogenic inflammation. [27] A 2010 study of the treatment of migraine with CGRP blockers had shown promise for CGRP blockers. [28] In early trials, the first oral nonpeptide CGRP antagonist, MK-0974 ( Telcagepant ), was shown effective in the treatment of migraine attacks, [29] but elevated liver enzymes in two participants were found. ... "Skeletal and hormonal effects of magnesium deficiency". J Am Coll Nutr . 28 (2): 131–41. doi : 10.1080/07315724.2009.10719764 .

TNF, TACR1, TAC1, APP, POMC, CALCA, PTGS2, AMN, PNOC, NGF, MCAM, CIRBP, IL2, TNFRSF1A, TNFRSF1B, RXRA, TRPV1, TRPV4
Squamous-Cell Carcinoma Of The Lung Wikipedia

National Cancer Institute . 1980-01-01 . Retrieved 2019-02-28 . ^ a b Kenfield SA, Wei EK, Stampfer MJ, Rosner BA, Colditz GA (June 2008). ... PMID 26629421 . ^ "Browse the Tables and Figures - SEER Cancer Statistics Review (CSR) 1975-2012" . SEER . Retrieved 2019-02-28 . v t e Glandular and epithelial cancer Epithelium Papilloma / carcinoma Small-cell carcinoma Combined small-cell carcinoma Verrucous carcinoma Squamous cell carcinoma Basal-cell carcinoma Transitional cell carcinoma Inverted papilloma Complex epithelial Warthin's tumor Thymoma Bartholin gland carcinoma Glands Adenomas / adenocarcinomas Gastrointestinal tract: Linitis plastica Familial adenomatous polyposis pancreas Insulinoma Glucagonoma Gastrinoma VIPoma Somatostatinoma Cholangiocarcinoma Klatskin tumor Hepatocellular adenoma / Hepatocellular carcinoma Urogenital Renal cell carcinoma Endometrioid tumor Renal oncocytoma Endocrine Prolactinoma Multiple endocrine neoplasia Adrenocortical adenoma / Adrenocortical carcinoma Hürthle cell Other/multiple Neuroendocrine tumor Carcinoid Adenoid cystic carcinoma Oncocytoma Clear-cell adenocarcinoma Apudoma Cylindroma Papillary hidradenoma Adnexal and skin appendage sweat gland Hidrocystoma Syringoma Syringocystadenoma papilliferum Cystic, mucinous, and serous Cystic general Cystadenoma / Cystadenocarcinoma Mucinous Signet ring cell carcinoma Krukenberg tumor Mucinous cystadenoma / Mucinous cystadenocarcinoma Pseudomyxoma peritonei Mucoepidermoid carcinoma Serous Ovarian serous cystadenoma / Pancreatic serous cystadenoma / Serous cystadenocarcinoma / Papillary serous cystadenocarcinoma Ductal, lobular, and medullary Ductal carcinoma Mammary ductal carcinoma Pancreatic ductal carcinoma Comedocarcinoma Paget's disease of the breast / Extramammary Paget's disease Lobular carcinoma Lobular carcinoma in situ Invasive lobular carcinoma Medullary carcinoma Medullary carcinoma of the breast Medullary thyroid cancer Acinar cell Acinic cell carcinoma v t e Cancer involving the respiratory tract Upper RT Nasal cavity Esthesioneuroblastoma Nasopharynx Nasopharyngeal carcinoma Nasopharyngeal angiofibroma Larynx Laryngeal cancer Laryngeal papillomatosis Lower RT Trachea Tracheal tumor Lung Non-small-cell lung carcinoma Squamous-cell carcinoma Adenocarcinoma ( Mucinous cystadenocarcinoma ) Large-cell lung carcinoma Rhabdoid carcinoma Sarcomatoid carcinoma Carcinoid Salivary gland–like carcinoma Adenosquamous carcinoma Papillary adenocarcinoma Giant-cell carcinoma Small-cell carcinoma Combined small-cell carcinoma Non- carcinoma Sarcoma Lymphoma Immature teratoma Melanoma By location Pancoast tumor Solitary pulmonary nodule Central lung Peripheral lung Bronchial leiomyoma Pleura Mesothelioma Malignant solitary fibrous tumor

FGFR2, EGFR, DDR2, KRAS, EPHA2, FGFR1, IGF1R, TTN, PLK1, NOTCH1, FYN, PRKDC, DDR1, MAST4, EPHA3, MYLK4, EPHA5, ANKK1, WNK3, ACVR1C, GUCY2F, DCLK3, MAP3K15, AURKC, BMP2K, TRIM24, MYO18B, ERBB4, MAP2K4, MAP4K3, CSF1R, ATR, TP53, CDKN2A, PIK3CA, BRAF, FGFR3, NFE2L2, STK11, FBXW7, HLA-A, CHRNA3, CLPTM1L, HRAS, PTEN, EP300, HLA-DQA1, CYP2A6, HNF1B, DCLK1, KRT8, BRCA2, H2AC6, TNXB, HLA-B, DCUN1D4, PDS5B, THRB, ATXN2, TRIM26, DBH, HLA-DMB, GBAP1, FRY, RALY, ESM1, SH2B3, MORF4L1, HCP5, SOX2, ZSCAN12, SCGN, BTN3A3, ZNF623, GSTM1, PKD2L1, MED12, HLA-DQA2, NEB, LCORL, MORN5, GPX6, LINC-PINT, CENPP, PC, B2M, NF1, FAM155A, PPP6C, ALK, CDKN2B-AS1, ZSCAN16-AS1, MTX1, EGFR-AS1, MUC22, PTCSC2, TSBP1-AS1, CYP1A1, NEK10, BTBD9, VARS2, BABAM1, CD274, ZNRD1, RAD51B, LRRC8D, CARMIL1, CREBBP, PTPN11, REXO4, NPAS3, TUBA1C, WNK1, ZNF322, CHRNB4, USHBP1, PGBD1, KCNH1, APOM, PIK3CB, PIK3CD, PIK3CG, H3P10, TP63, NME1, GPC3, PTHLH, MIR205, MET, CEACAM5, VEGFA, RARB, GATA6, CCND1, MKS1, MAP2K7, MAPK3, BDNF, CDK4, SFTA1P, DSG3, MIR93, MYC, AKT1, CTNNB1, TYMS, RAD52, ME1, TOP2A, TGFBR2, ELAVL2, PDPN, OGG1, SOX2-OT, MALAT1, MIR145, MIR150, ZEB1, PDCD1, MIR21, MBD2, NAPSA, PARP1, PROM1, SUMO1P3, MIR375, MIR590, CXCR4, MPO, MMP9, MLH1, CCNB2, CKAP4, FGF19, RET, TPX2, TRIM58, DGCR5, HPGDS, SGSM3, RPE65, ROS1, RFC4, SLC2A2, UVRAG, SKP2, XAF1, PTPN13, ACKR3, PTK2, SST, DMRT3, PSG2, STAT3, PDCD1LG2, PRKCI, TIMP1, BMP4, CLDN3, COL11A2, ERBB2, CYP1A2, CYP2E1, FHIT, STMN1, IL6, FGFR4, LGALS8, CAV1, LOXL2, CDH1, EIF4G1, GABPA, BCL2, GSTP1, IFNG, DUSP6, CEACAM3, CEACAM7, MCL1, MDM2, SMAD4, AGER, CTLA4, GLI1, BIRC6, SOX17, AICDA, MYDGF, METTL3, COL17A1, SPC25, RAD18, SYT13, CLDN7, CCAR2, METTL14, COX8A, KIF15, MRTFA, CNOT6, NSD1, MEOX1, ZMAT3, DENND2D, ZNF503, CDKN1B, MAP1LC3A, HOPX, CHRNA4, FSD1L, DOCK8, MAP1LC3B, CHRNA7, CHUK, TBL1XR1, P2RY12, AP2M1, IRX1, FSD1, MAPKAP1, FTO, BRD9, CLU, CCR4, MRPL41, IL25, FRTS1, CRK, CPOX, LMO3, IL17C, LHX6, FBXO5, DAXX, PRPF31, POLDIP2, RNF19A, AKR1C2, NOCT, CIZ1, SNHG1, CORO1C, MMD, NCS1, SIRT1, COBL, GRAMD4, GADD45A, PEG10, DIO3, DMRT1, MMRN1, DNAH5, TUSC2, WIF1, IL17B, GPR78, RBMS3, CSNK2A1, BRK1, CACNA2D3, CHFR, HHAT, ATG4D, MAPK14, CSF1, BRF2, CSF2, CSF3, ALKBH5, EGLN1, TMEM97, CYTL1, SOX18, GPR87, IL17D, BCL11A, ANAPC11, GOLM1, GMNN, CSNK2A2, CTSB, EML4, RIOX2, IL17F, CDKN1A, MNX1-AS1, MIR193B, MIR452, MIR448, AQP5, ARG2, MIR372, MIR342, MIR324, MIR135B, MAP1LC3C, C5orf17, PRR26, MIR9-3, BCHE, MIR31, MIR29B2, MIR29B1, MIR29A, MIR28, MIR224, MIR223, MIR206, BMI1, MIR203A, MIR20A, MIR486-1, IGF2BP2-AS1, MIR195, LINC00273, SEC62-AS1, LINC01419, ADRA1A, ADRA2B, LINC01206, MIR5682, COMMD3-BMI1, LINC00968, AGTR1, PCAT6, MIR1911, ALB, GATA6-AS1, VPS9D1-AS1, MIR944, MIR541, ALDH1A1, MIR671, ANG, LINC00460, MIR662, ANGPT1, MIR588, MIR579, NME1-NME2, MIR198, MIR192, TRIM15, CD14, STXBP4, FAM83B, ADGRF4, CD44, FBXO45, PLPP4, FEZF1-AS1, APCDD1L-DT, IL23R, FAM163A, HJV, PIWIL4, LINC00261, ADHFE1, CD109, CDK2, PODN, LRRK2, CDK7, AZIN2, PRDM5, MUC16, MTDH, IL33, ERVH48-1, MS4A3, CCNE1, MIR185, TBX5-AS1, MIR183, MIR182, MIR15A, FOXL2, MIR144, MIR141, MIR140, MIR125A, MIRLET7I, BRS3, USP17L7, SERPING1, CCL4L1, KMT5A, CA9, CASP3, CASR, CBR1, GADL1, CELIAC2, STPG4, CXCL17, HCCAT5, SBF2-AS1, CCK, FSTL1, AHSA1, DSC3, S100A10, RRM2, RPS14, FOXA2, HNRNPU, RGS3, HOXA10, HSPB1, HTC2, IRF8, MOK, IFIT2, PVT1, PTPRA, IGF2R, TWF1, PTK7, IHH, PTGS2, IL10, IL17A, MASP1, IDO1, MAPK8, IRF1, MAPK1, S100A6, HLA-C, DUSP1, SERPINB3, GSTM2, STAT1, SSTR4, SRPK2, SRPK1, SQLE, SPARC, SOX4, GZMB, HLTF, HBE1, SLC2A1, HIC1, SIM1, SIAH2, SHH, SFTPB, TRA2B, SRSF2, SRSF1, HK2, SELENOP, SELP, CCL4, CCL2, IRF4, ITGB4, KIF5B, PPBP, NME2, NGFR, NFYC, NFKBIA, NFIX, LRP6, LRP5, EPCAM, NCAM1, MYO10, MYH10, MYCN, SMAD3, MYBPH, MUC4, MUC1, ND5, MSR1, MSH2, MMP14, MCM2, MMP7, MCM5, MIF, MIA2, LIPA, LGALS1, CLDN11, SERPINA1, POU4F2, POU3F2, KIT, PLG, PLAU, PKP1, PIK3R2, KRT19, KRT81, LCK, SERPINB5, ABCB1, OVOL1, PDGFRB, LCN2, PCNA, LDHA, PAX7, PARN, PAK1, SERPINE1, PAEP, PEBP1, P2RY1, AURKA, GSPT1, GSK3B, BECN1, CCL4L2, TP53I3, BAG4, EIF2AK3, GRAP2, COX5A, PLAA, KL, SOCS6, PIWIL1, ERCC1, LPAR2, ESRRA, CLDN1, CLDN12, PRC1, ETV4, H3C7, EZH2, SQSTM1, F2R, INPP4B, FAP, TNFRSF10B, DLK1, EPHX1, KMT2B, KEAP1, HCG9, E2F1, CHL1, CXCR6, ECT2, SPAG5, EDNRA, TACC3, YAP1, PIAS3, DLC1, EEF2, GPHN, EPHB3, WASF2, PDIA6, EIF4E, ARL4C, ARPC5, BCL2L11, HDAC5, ENO1, EPAS1, GAB2, ZEB2, TNFSF10, FGF1, MAP3K7, GAS7, FUS, FUT1, TTF1, NR2C2, TPD52, TOP3A, GATA3, GATA4, TNNI3, TNF, CLDN5, TK1, TIAL1, TIA1, GPR42, THOP1, THBS2, GPX2, TGFBI, TGFB1, TFF3, TFAM, TERC, GRN, GRM8, SUMO1, SCGB1A1, USP4, FGF9, FGF3, HYAL3, H3C2, H3C10, H3C12, H3C8, H3C11, H3C6, H3C3, H3C4, H3C1, FXR1, FOXO3, KMT2D, AIMP2, USP7, YWHAZ, XRCC3, XRCC1, XPC, WNT5A, VIM, FOXM1, VDAC3, ABL2
Microphthalmia, Syndromic 2 Omim

All 34 patients had congenital cataract, and microphthalmia and/or microcornea were present in 28 (82%). Twenty-five (96%) of 26 patients for whom a facial phenotype was observed had septate nasal cartilage, and 8 (31%) had palatal abnormalities, including cleft palate, high-arched palate, and bifid uvula. ... Skeletal anomalies were observed in 28 (97%) of 29 patients examined, with 2-3 toe syndactyly in 16 (57%) and hammertoes in 15 (54%).

NAA10, BCOR, ARHGAP4, ANOP1, NAT10
- Lenz Microphthalmia Syndrome Medlineplus
  
  Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males. The eye abnormalities associated with Lenz microphthalmia syndrome can affect one or both eyes. People with this condition are born with eyeballs that are abnormally small (microphthalmia) or absent (anophthalmia), leading to vision loss or blindness. Other eye problems can include clouding of the lens (cataract ), involuntary eye movements (nystagmus), a gap or split in structures that make up the eye (coloboma), and a higher risk of an eye disease called glaucoma . Abnormalities of the ears, teeth, hands, skeleton, and urinary system are also frequently seen in Lenz microphthalmia syndrome.
- Lenz Microphthalmia Syndrome Gard
  
  Lenz microphthalmia syndrome is one of a group of genetic disorders known as syndromic microphthalmia. These conditions involve abnormal development of the eyes and several other parts of the body. Eye symptoms may include underdeveloped (small)or absent eyes, clouding of the lens (cataracts), uncontrolled eye movements (nystagmus),a gap or split in structures that make up the eye ( coloboma ) and glaucoma. These symptoms may affect one or both eyes and may cause vision loss or blindness. Other signs and symptoms may include abnormalities of the ears, teeth, hands, skeleton, urinary system, brain and heart.
- Microphthalmia, Syndromic 1 Omim
  
  A number sign (#) is used with this entry because of evidence that Lenz microphthalmia syndrome (MCOPS1) is caused by mutation in the NAA10 gene (300013) on chromosome Xq28. One such family has been reported. Description Lenz microphthalmia syndrome is a rare multisystem condition defined by the canonical features of unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary systems. Anomalies of the digits, teeth, and ears are also hallmarks of the syndrome. Intellectual disability ranges from mild to severe, with self-mutilating behaviors and seizures in severely affected individuals (summary by Esmailpour et al., 2014). Genetic Heterogeneity Other forms of syndromic microphthalmia include MCOPS2 (300166), caused by the BCOR gene (300485) on chromosome Xp11; MCOPS3 (206900), caused by mutation in the SOX2 gene (184429) on chromosome 3q26; MCOPS5 (610125), caused by mutation in the OTX2 gene (600037) on chromosome 14q22; MCOPS6 (607932), caused by mutation in the BMP4 gene (112262) on chromosome 14q22; MCOPS7 (309801), caused by mutation in the HCCS gene (300056) on chromosome Xp22; MCOPS9 (601186), caused by mutation in the STRA6 gene (610745) on chromosome 15q24; MCOPS11 (614402), caused by mutation in the VAX1 gene (604294) on chromosome 10q25; MCOPS12 (615524), caused by mutation in the RARB gene (180220) on chromosome 3p24; MCOPS13 (300915), caused by mutation in the HMGB3 gene (300193) on chromosome Xq28; MCOPS14 (615877), caused by mutation in the MAB21L2 gene (604357) on chromosome 4q31; and MCOPS15 (615145), caused by mutation in the TENM3 gene (610083) on chromosome 4q.
- Microphthalmia, Lenz Type Orphanet
  
  Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).
- Lenz Microphthalmia Syndrome Wikipedia
  
  Lenz microphthalmia syndrome Other names LMS Lenz microphthalmia syndrome is a very rare inherited disorder characterized by abnormal smallness of one or both eyes ( microphthalmos ) sometimes with droopy eyelids ( blepharoptosis ), resulting in visual impairment or blindness. Eye problems may include coloboma , microcornea, and glaucoma . Some affected infants may have complete absence of the eyes ( anophthalmia ). Most affected infants have developmental delay and intellectual disability , ranging from mild to severe. Other physical abnormalities associated with this disorder can include an unusually small head ( microcephaly ), and malformations of the teeth, ears, fingers or toes, skeleton, and genitourinary system. The range and severity of findings vary from case to case. Formal diagnosis criteria do not exist.
Fetal Akinesia Deformation Sequence 1 Omim

Hageman et al. (1987) observed a variety of brain pathology in 6 unrelated new cases and in a review of 28 previously reported cases. Katzenstein and Goodman (1988) reported a case of survival to the age of 20 months. Out of about 60 reported cases, only 5 others surviving beyond 28 days were found. Lammer et al. (1989) described affected brothers who were unusual because they had macrocephaly and normal intrauterine growth.

MUSK, RAPSN, DOK7, NUP88, MYOD1, SLC18A3, GBE1, ASCC1, GLE1, NEB, RYR1, KLHL40, CHRNG, CHRND, NEK9, MYPN, TPM2, KLHL41, LGI4, CNTNAP1, TPM3, ACTA1, KBTBD13, KIF5C, CHRNA1, CNTN1, GBA, DPAGT1, AGRN, TUBB2B, COL1A2, PIGS, ACTB, OFD1, FLAD1, SYNE1, NMNAT2, KIF14, PDHA1, DTNA
- Fetal Akinesia Deformation Sequence 4 Omim
  
  A number sign (#) is used with this entry because of evidence that fetal akinesia deformation sequence-4 (FADS4) is caused by homozygous or compound heterozygous mutation in the NUP88 gene (602552) on chromosome 17p13. Description Fetal akinesia deformation sequence-4 (FADS4) is an autosomal recessive disorder characterized by decreased fetal movements due to impaired neuromuscular function, resulting in significant congenital contractures and death in utero or soon after birth (summary by Bonnin et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150. Clinical Features Bonnin et al. (2018) reported 4 sibs, conceived of consanguineous Palestinian parents (family A), with lethal arthrogryposis multiplex congenita (AMC). The only live-born infant died at 2 days of age; the other 3 died in utero either through miscarriage or termination of pregnancy due to affected status.
- Fetal Akinesia Deformation Sequence 2 Omim
  
  A number sign (#) is used with this entry because of evidence that fetal akinesia deformation sequence-2 (FADS2) is caused by homozygous or compound heterozygous mutation in the RAPSN gene (601592) on chromosome 11p11. Mutation in the RAPSN gene can also cause a form of congenital myasthenic syndrome (CMS11; 616326). Description The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150.
- Fetal Akinesia Deformation Sequence Orphanet
  
  The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity. Epidemiology The syndrome is rare: about 100 cases have been described in the literature. About 30% are stillborn, and the majority of those live-born die of the complications of pulmonary hypoplasia. Clinical description Failure of normal deglutition results in polyhydramnios, and a lack of movement of the diaphragm and intercostal muscles leads to pulmonary hypoplasia.
- Fetal Akinesia Deformation Sequence 3 Omim
  
  A number sign (#) is used with this entry because of evidence that fetal akinesia deformation sequence-3 (FADS3) is caused by homozygous mutation in the DOK7 gene (610285) on chromosome 4p16. One such family has been reported. Mutation in the DOK7 gene can also cause a form of congenital myasthenic syndrome (CMS10; 254300). Description The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150.
- Fetal Akinesia Deformation Sequence Gard
  
  Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures ( arthrogryposis ), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.
- Fetal Akinesia Syndrome, X-Linked Omim
  
  Holmes et al. (1997) reported male sibs with a possibly X-linked form of fetal akinesia syndrome. One sib died at 11 weeks of age and other sib was stillborn. In both, the pregnancies were characterized by polyhydramnios and hypokinesia. Both had brain malformations (absence of corpus callosum in one; arhinencephaly in the other), telecanthus, and narrow palpebral fissures. (See holoprosencephaly with fetal akinesia/hypokinesia sequence (306990).) Only affected male sibs were described in several reports: Mease et al. (1976), MacMillan et al. (1985), Lammer et al. (1989), Gyr et al. (1992).