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Phakomatosis Pigmentokeratotica
Wikipedia
Phakomatosis pigmentokeratotica Other names Organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies [1] Specialty Dermatology Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus . [2] : 634–5 [3] : 776 It is an unusual variant of epidermal naevus syndrome . [4] It was first described by Happle et al . [5] It is often associated with neurological or skeletal anomalies such as hemiatrophy , dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation , seizures , deafness , ptosis and strabismus . [6] See also [ edit ] Skin lesion List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer References [ edit ] ^ "Phacomatosis pigmentokeratotica | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... "Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome". American Journal of Medical Genetics . 65 (4): 363–5. doi : 10.1002/(SICI)1096-8628(19961111)65:4<363::AID-AJMG27>3.0.CO;2-R . ... "Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome" . Archives of Dermatology . 134 (3): 333–7. doi : 10.1001/archderm.134.3.333 .
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Mitochondrial Complex V (Atp Synthase) Deficiency, Mitochondrial Type 1
Omim
Shoffner et al. (1992) reported a family in which 2 daughters died at 2.5 years and 14 months of Leigh syndrome. Pathologic analyses showed classic basal ganglial lesions, vascular proliferation, and glioses. ... Molecular Genetics In a female infant with MC5DM1 resulting in Leigh syndrome, Tatuch et al. (1992) identified a heteroplasmic mutation (8993T-G; 516060.0001) in the MTATP6 gene. ... In the family reported by van Erven et al. (1987) in which the mother and all 4 children were affected with MC5DM1 resulting in Leigh syndrome, de Vries et al. (1993) identified a heteroplasmic mutation in the MTATP6 gene (516060.0002).
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Astrocytoma
Orphanet
The principal genetic predisposing syndromes are: neurofibromatosis type 1, Turcot syndrome and Li-Fraumeni syndrome (see these terms).NF1, FGFR1, PTPN11, TP53, BRAF, MMP9, HIF1A, MET, HGF, ESR1, MMP3, KIAA1549, NCOA3, NOTCH1, KRAS, LATS2, ACVR1, NOTCH2, LATS1, NTRK2, HEY1, NDRG1, HEY2, AR, DLL3, ESR2, HRAS, CDKN2A, IDH2, IDH1, IFNG, TSC2, H3-3A, TSC1, ERBB2, NF2, MLH1, MSH3, MSH2, MSH6, VEGFA, MIB1, TNF, PTEN, PMS2, BRCA2, CTNNB1, H3P10, PDGFRA, AKT1, EGF, GFAP, ATRX, EGFR, POT1, APC, TAC1, IL1B, IL6, CXCL8, MGMT, MMP2, CCND1, MKI67, PPP1R2C, STAT3, CCL2, OLIG2, GJA1, IL1A, MTOR, CDK4, CDK2, ACTB, NGF, H3-3B, PITX1, IGFBP2, ICAM1, BCL2, APOE, SLC2A1, CXCR4, AQP4, TIMP1, OSM, PIK3CA, CDKN2B, GDNF, KDR, MAPK1, LOC110806263, GSTM1, FGF2, CD44, ARHGAP24, CHI3L1, CAV1, ANGPT1, DMBT1, IFNB1, NOS2, SERPINE1, MDM2, PSEN1, ADARB1, EPHB2, PTGS2, PAX6, PCNA, BDNF, PGR, SOX2, NES, TACR1, NOS1, ABCB1, ANXA1, ITIH4, TP73, CCL5, HSPA5, IGF1, S100A4, IL13RA2, CIC, GSTP1, RAC1, MDM4, CDKN1B, TERT, FGFR4, HPGDS, TNC, NPM1, NUP98, NXT1, MLC1, TM7SF2, MRPL28, SRC, ALK, CXCL12, FPR2, ATM, TXN, CXCL10, H3P9, HFE, PRND, TGFA, NEFL, APP, MYC, SUB1, EZH2, GSTT1, FN1, ABCC1, MRC1, AQP1, GAPDH, EGR1, PTHLH, WLS, TNKS, NCOA1, PLG, PLA2G10, PROM1, KLF6, GADL1, PFKFB3, MAPK14, MAPK3, PLA2G2A, AZIN2, SAI1, SPARC, PTN, PEA15, LGALS3, VHL, RAF1, NAT2, SLC6A8, TBC1D9, JAK2, PTK2, POLDIP2, VCAM1, UBE2N, ADM, RNF19A, SLC1A2, PTPN6, LAMP1, P2RX4, SPAG9, HSPB3, ABCC3, TNFRSF1A, IFI27, SFRP1, SETD2, TNFSF10, TNFRSF6B, S100B, TLR3, RGCC, S100A13, IGFBP3, NRP1, TGFBI, IL4, GPR162, ARHGEF7, SPHK1, GLS2, RGS2, TGFB1, MAP2, ILK, RASGRF1, PSMD9, NT5C2, AHSA1, TAT, DCTN6, PIK3CB, YWHAZ, SOX10, SERPINE2, ID4, NFE2L2, NFKB1, SOX11, PECAM1, SNCA, AIMP2, PDGFA, ZNRD2, SLC7A5, NOS3, H3P23, NPY, SPP1, CIB1, P2RY1, XRCC4, NR1I3, PIK3CD, PIK3CG, MBP, ZHX2, NTRK1, AURKB, PROX1, GRAP2, MAPK8, CD99, WIF1, EZR, VIM, MMP1, VTN, RASSF1, PLAU, MMP14, DSTN, PLA2G4A, XRCC3, GLIPR1, MVP, BECN1, H3P40, VCAN, CDKN1A, DSC3, CD40, CD47, GAST, MIR183, MARCKSL1, CD63, RTEL1, AXL, DNMT1, GSTK1, ASCL1, MIR221, ZMYND10, GRIA2, BSG, CCDC88A, EDN1, CALCR, CASR, TICAM2, NDRG2, CASP3, SLC12A9, CALR, CACNA1F, TMED7-TICAM2, CCK, CA9, CCND2, F3, FABP7, MIR106A, PDIK1L, CDH1, CSF2, GSN, CSF3, ANGPT2, TMED7, ASCC1, FOXP3, MAP1LC3B, CRK, GSTM3, COX8A, CCR5, STARD13, CNTF, SIRPA, GSK3B, CRABP2, HES1, HSPB1, HSPE1, HSPB2, SLCO6A1, EMC10, CDK5R1, EGLN3, TSC22D1, ZAR1, HDAC3, NANOS3, AIM2, IQGAP1, NAPSA, MACC1, TNFRSF10B, ATG5, ASPM, TNFRSF11A, QKI, TNFRSF10A, DIRAS1, TAC4, DOK2, LGI1, PLB1, SLC5A8, PLK5, EXO1, NEURL1, PDCD5, AIFM1, SLC16A3, SLC16A4, CITED4, FOLH1B, PTTG1, SGPL1, ADGRG1, RICTOR, SEMA5A, ELFN2, SOCS3, KLF4, CDCA5, NCR1, BTRC, HJV, SNURF, FUBP1, RIPK2, AKR1C3, HES5, UCN, MIR451A, MIR370, MIR335, VEGFB, MIR328, XRCC6P5, MIR17HG, TRPV1, MIR93, XK, MIR25, MIR224, MIR223, XRCC5, MIR22, VAV2, MIR146B, SOHLH1, TYK2, CDKN2B-AS1, ESRG, MIR770, POTEF, PPAN-P2RY11, TPM3, TRAF3, TRH, MIR542, CXADRP1, TWIST1, POU5F1P4, RASSF10, POU5F1P3, MIR497, ZAP70, ZFP36, MIR214, ST8SIA4, CUL3, ATRN, RGS5, PPM1D, CDC14B, MIR132, MKNK1, AKR7A2, MIR128-1, AKAP12, MIR100, SOCS1, EIF3A, MIRLET7G, HRK, RECK, MIR137, NR0B2, ST8SIA2, MIR21, ADAM12, FOSL1, YEATS4, MIR206, MIR195, MIR184, MIR144, MIR17, MIR146A, CD24, LZTR1, USP9X, RBM10, PTGES, PYCARD, RGS6, PID1, CT55, FOCAD, TERF2IP, MMRN1, CD93, TLR9, TPX2, SHC3, NCOA6, RAB23, ACSL5, RASD1, PLCB1, PHLPP1, CAMTA1, NLRP1, ATF5, SIRT1, NEIL3, SPHK2, LINC00470, UBE2C, RAPGEF4, ADAMTS13, PTPRT, CD160, BCCIP, MMP26, MIR4758, PPAN, PCDHGA11, AP5M1, HES6, IMP3, PSD3, GDE1, LHX9, HSPA14, DKK3, LEF1, STARD13-AS, UPK3B, ING4, TFB1M, TNFRSF21, NOX4, NT5C, RBMX, RABGEF1, UBQLN1, SENP1, HIPK2, UHRF1, B3GAT1, ANKRD1, PHF3, NUSAP1, RNF138, PPME1, DNPEP, SH3BP4, MTCO2P12, LSM4, CHST15, PRDX5, WT1-AS, TLR7, PHF20, PHGDH, MYCBP, GNL3, TOP3A, BDH2, METAP2, HDAC9, HDAC5, PDGFD, DNM1L, PTPRU, MINDY3, OPTN, DHDDS, G3BP1, NANOG, MAP9, TRIM13, MCPH1, BIRC7, AKR1A1, TLR6, TUBB3, COL18A1, TANK, WNK1, AKT3, ATP23, PIEZO1, RB1CC1, MELK, AP5Z1, LMLN, KIF14, TMPRSS13, CTNNA3, ATAD3B, SESN2, RASSF5, NR1D2, KAZALD1, WNT5B, YAP1, PRMT5, CHPT1, NUFIP2, PDPN, GPR158, RASL10A, ZMIZ1, SPINT2, MIR3189, CD248, ACKR3, CYSLTR1, ALDH1L1, TUBGCP2, PPP1R13L, HPSE, BLCAP, FASTK, IVNS1ABP, MXD4, TUBGCP3, SEMA6A, RTN4R, P2RY12, GORASP1, LRRN2, CPEB1, HOXB13, ARHGEF28, TFB2M, XYLT1, GOLPH3, NPAS3, PRDM16, TRPV4, NLRC4, HAMP, HOTAIR, A2M, TOP2B, PTK2B, EPAS1, EPHA8, ERBB3, ETS1, EXT1, EYA2, EZH1, F2RL2, FABP5, FKTN, FOSB, FCN2, FEN1, FGFR3, FGFR2, FLI1, FLII, FLT1, FMR1, FOLH1, ENPEP, EMP3, ELK1, EIF4E, DECR1, DES, DIAPH2, DNASE1, DNMT3A, DNMT3B, DRD1, DRD2, ATN1, DUT, DVL3, E2F1, E2F4, ECT2, EDNRA, EDNRB, EFNB1, EFNB2, EPHA2, FOS, FTH1, DCX, IGF1R, HOXD9, HOXD13, HRH1, HSPD1, HTC2, HTR1B, IFI35, IFIT2, IFIT1, IGF2, GABPA, IGFALS, IGFBP4, IL1RN, IL4R, CXCR2, IL12A, IL13, IL17A, ING1, HOXA9, HMOX1, HMMR, HMGA1, GAP43, GATA4, GATA6, GCHFR, GEM, GCLC, GLG1, GLI2, GOLGA4, CXCR3, GRM2, GRM3, GRM5, CXCL1, H2AX, HAS2, HELLS, HLA-DRB4, HLA-G, DMXL1, BRINP1, JUN, AREG, ANXA2, AOX1, BIRC5, AQP8, APOD, APRT, FAS, FASLG, AQP9, RHOA, BST2, ARR3, STS, ATP1B2, ATP2A2, B2M, BAX, BCL2L1, OPN1SW, BMI1, ANPEP, ANG, AMPD1, ALOX5, ACHE, ACTN4, ACTN1, ADAR, ADARB2, ADCY1, ADH1A, ADH1B, ADH1C, ADH4, ADH6, ADK, PARP1, ADRB2, AGT, AHSG, AIF1, AKT2, AKR1B1, BMP1, TSPO, CD55, CS, CETN3, CLU, CCR3, CNP, CNR1, CNR2, COL6A1, CPE, CREB1, CSF3R, C2, CST3, CSTB, CTH, CTNNA1, CTSD, CX3CR1, CXADR, CYP1B1, CYP2D6, CETN2, CDKN3, CDK9, CDK5, C3, VPS51, CA8, CA12, CASP9, CAT, RUNX1, RUNX3, SERPINA6, CCNG2, CCNT1, CCT, CD28, CD34, SCARB2, CD59, CDC20, CDC42, CDH11, IRF7, JUNB, TOP2A, SATB1, RNPEP, ROS1, RPLP0, RPS6, RPS15, RYR2, S100A9, SAA1, SAA2, CCL14, SLC6A12, CXCL6, SDC4, SDHA, SCG5, SIAH1, SIX1, SIX3, SKP2, SLC2A3, BRD2, RIEG2, RGS4, RGS3, KLK6, PSMA5, PTGER3, PTPN13, PTPRA, PTPRZ1, PVT1, PXN, RAB27B, RAC2, RAD51, RAP1A, RARB, PLAAT4, RASA1, RBM3, RBP2, REG1A, RELA, SLC5A2, SMARCA1, PRNP, TFAP2A, TBX2, TBXA2R, TCF4, HNF1A, TCF7, TCF7L2, TRBV20OR9-2, TEK, TERC, NR2F2, SMARCA2, TFR2, TFRC, TGFB1I1, TIMP2, TIMP4, NKX2-1, TLE2, TLR1, TLR2, TAZ, CNTN2, TARBP2P1, TARBP2, SMARCA4, SMN1, SMN2, SNRPN, SOD1, SOD2, SOS1, SOX4, SP1, SPAST, SPG7, RO60, STAT5A, STAT5B, STAT6, AURKA, STX1A, SULT2A1, SYT1, PRPS1, MAP2K7, JUND, CD200, MDK, MFAP1, CIITA, MIP, MMP7, MMP15, MMP16, MMP19, MNAT1, MPST, NBN, MSMB, MST1, MT1A, COX2, MUC1, MXI1, MYB, MYBL1, MYCN, CD46, MCL1, MATN2, MATK, KCNA5, KCNE1, KCNH2, KPNA2, RPSA, STMN1, LDLR, LEP, LGALS4, LIF, LNPEP, LOX, LPA, LPP, LRP1, LSP1, LTA, CYP4F3, MXD1, NAP1L1, NCK1, MAP2K1, PLD2, ENPP1, PFKFB4, PGAM1, PGK1, SLC25A3, PIM1, PIK3R1, PLA2G1B, PLD1, PLEC, NCL, PLP1, SEPTIN4, PODXL, PON1, POU5F1, PPP1R1A, PRKAR1A, PRKCA, PRKDC, PDGFRB, PDGFB, PDE3B, PAX5, SEPTIN2, NEU1, NFIA, NFATC3, NFIB, NGFR, NKX2-2, NME1, CCN3, NOVA1, NPPB, P2RX3, P2RX7, P2RY2, P2RY6, P2RY11, PEBP1, PRDX1, PAX3, RAC3
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Mycophenolate Mofetil Embryopathy
Orphanet
Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. ... Differential diagnosis The differential diagnosis includes 18q deletion (distal), CHARGE syndrome and isotretinoin embryopathy (see these terms). 18q deletion is excluded by cytogenetic studies, CHARGE syndrome by CHD7 gene mutation scanning, and isotretinoin embryopathy by maternal interview.
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Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Orphanet
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. Epidemiology It was initially described in the Charlevoix-Saguenay region of Quebec where incidence of ARSACS at birth has been estimated at 1 in 1,932. ... The spasticity is progressive and eventually dominates the clinical picture. The pyramidal syndrome is characterised by brisk patellar tendon reflexes and the Babinski sign. ... Differential diagnosis Differential diagnoses include other autosomal recessive ataxias, such as Friedreich ataxia and ataxia with vitamin E deficiency (AVED), and hereditary forms of spastic paraplegia (see these terms), in particular spastic paraplegia 20 (SPG20-Troyer syndrome). Antenatal diagnosis Prenatal diagnosis is possible when the disease-causing mutation has been identified and genetic counselling should be offered to affected families.
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Wound Botulism
Orphanet
Differential diagnosis Differential diagnosis includes myasthenia gravis, Guillain-Barré syndrome (Miller-Fisher syndrome), Lambert-Eaton syndrome, and foodborne and adult intestinal botulism (see these terms).
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Adult Intestinal Botulism
Orphanet
Differential diagnosis Differential diagnosis includes myasthenia gravis, Guillain-Barré syndrome (Miller Fisher syndrome), Lambert-Eaton syndrome and foodborne and wound botulism (see these terms).
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Pruritic Folliculitis Of Pregnancy
Wikipedia
PMID 17263216 . v t e Pathology of pregnancy , childbirth and the puerperium Pregnancy Pregnancy with abortive outcome Abortion Ectopic pregnancy Abdominal Cervical Interstitial Ovarian Heterotopic Embryo loss Fetal resorption Molar pregnancy Miscarriage Stillbirth Oedema , proteinuria and hypertensive disorders Gestational hypertension Pre-eclampsia HELLP syndrome Eclampsia Other, predominantly related to pregnancy Digestive system Acute fatty liver of pregnancy Gestational diabetes Hepatitis E Hyperemesis gravidarum Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy Gestational pemphigoid Impetigo herpetiformis Intrahepatic cholestasis of pregnancy Linea nigra Prurigo gestationis Pruritic folliculitis of pregnancy Pruritic urticarial papules and plaques of pregnancy (PUPPP) Striae gravidarum Nervous system Chorea gravidarum Blood Gestational thrombocytopenia Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity amniotic fluid Oligohydramnios Polyhydramnios Braxton Hicks contractions chorion / amnion Amniotic band syndrome Chorioamnionitis Chorionic hematoma Monoamniotic twins Premature rupture of membranes Obstetrical bleeding Antepartum placenta Circumvallate placenta Monochorionic twins Placenta accreta Placenta praevia Placental abruption Twin-to-twin transfusion syndrome Labor Amniotic fluid embolism Cephalopelvic disproportion Dystocia Shoulder dystocia Fetal distress Locked twins Nuchal cord Obstetrical bleeding Postpartum Pain management during childbirth placenta Placenta accreta Preterm birth Postmature birth Umbilical cord prolapse Uterine inversion Uterine rupture Vasa praevia Puerperal Breastfeeding difficulties Low milk supply Cracked nipples Breast engorgement Childbirth-related posttraumatic stress disorder Diastasis symphysis pubis Postpartum bleeding Peripartum cardiomyopathy Postpartum depression Postpartum psychosis Postpartum thyroiditis Puerperal fever Puerperal mastitis Other Concomitant conditions Diabetes mellitus Systemic lupus erythematosus Thyroid disorders Maternal death Sexual activity during pregnancy Category This cutaneous condition article is a stub .
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Metastatic Calcification
Wikipedia
Paget disease Immobilization Vitamin D related disorders Vitamin D intoxication Williams syndrome (increased sensitivity to vitamin D) Sarcoidosis Kidney failure References [ edit ] ^ "Cell Injury" . ^ a b Bertazzo, S. et al. ... ISBN 978-1455726134 . v t e Electrolyte imbalances Sodium High Salt poisoning Low Hypotonic Isotonic Cerebral salt-wasting syndrome Potassium High Low Chloride High Low Calcium High Low Symptoms and signs Chvostek sign Trousseau sign Milk-alkali syndrome Disorders of calcium metabolism Calcinosis ( Calciphylaxis , Calcinosis cutis ) Calcification ( Metastatic calcification , Dystrophic calcification ) Familial hypocalciuric hypercalcemia Phosphate High Low Magnesium High Low This article related to pathology is a stub .
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Mucometrocolpos
Wikipedia
It also occurs with McKusick–Kaufman syndrome (MKS). Polydactyly and heart disease are associated with this condition. Diagnosis is challenging because symptoms also occur in a variety of other syndromes . [2] Secretions can build up and extend as far as the uterus and abdomen. [3] Mucometrocolpos can sometimes cause abdominal distention. [4] The build up of mucous secretions can occur prior to adolescence unrelated to menstruation . [5] Many cases can be detected prenatally. [6] [1] Treatment is surgical and is specific for each case. ... "Prenatal diagnosis of hydrometrocolpos in a down syndrome fetus" . Journal of Clinical Ultrasound . 39 (3): 169–171. doi : 10.1002/jcu.20785 .
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Overactive Disorder Associated With Mental Retardation And Stereotyped Movements
Wikipedia
The category is included here because of the evidence that children with moderate to severe intellectual disability (IQ below 35) who exhibit major problems in hyperactivity and inattention frequently show stereotyped behaviours; such children tend not to benefit from stimulant drugs (unlike those with an IQ in the normal range) and may exhibit a severe dysphoric reaction (sometimes with psychomotor retardation) when given stimulants; in adolescence the overactivity tends to be replaced by underactivity (a pattern that is not usual in hyperkinetic children with normal intelligence). It is also common for the syndrome to be associated with a variety of developmental delays, either specific or global. The extent to which the behavioural pattern is a function of low IQ or of organic brain damage is not known, neither is it clear whether the disorders in children with mild intellectual disability who show the hyperkinetic syndrome would be better classified here or under F90.- ( Hyperkinetic disorders ); at present they are included in F90-. ... If the diagnostic criteria for F84.0 ( childhood autism ), F84.1 ( atypical autism ) or F84.2 ( Rett's syndrome ) are met, that condition should be diagnosed instead.
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Xanthoma Disseminatum
Wikipedia
Xanthoma disseminatum Other names Disseminated xanthosiderohistiocytosis [1] and Montgomery syndrome [2] Specialty Endocrinology Xanthoma disseminatum is a rare cutaneous condition that preferentially affects males in childhood, characterized by the insidious onset of small, yellow-red to brown papules and nodules that are discrete and disseminated. [2] : 717 It is a histiocytosis syndrome. [3] See also [ edit ] Non-X histiocytosis List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... External links [ edit ] Classification D ICD - 10 : E78.2 ( ILDS E78.240) v t e Inborn error of lipid metabolism : dyslipidemia Hyperlipidemia Hypercholesterolemia / Hypertriglyceridemia Lipoprotein lipase deficiency/Type Ia Familial apoprotein CII deficiency/Type Ib Familial hypercholesterolemia/Type IIa Combined hyperlipidemia/Type IIb Familial dysbetalipoproteinemia/Type III Familial hypertriglyceridemia/Type IV Xanthoma/Xanthomatosis Hypolipoproteinemia Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease Lipodystrophy Barraquer–Simons syndrome Other Lipomatosis Adiposis dolorosa Lipoid proteinosis APOA1 familial renal amyloidosis v t e Histiocytosis WHO-I/ Langerhans cell histiocytosis / X-type histiocytosis Letterer–Siwe disease Hand–Schüller–Christian disease Eosinophilic granuloma Congenital self-healing reticulohistiocytosis WHO-II/ non-Langerhans cell histiocytosis / Non-X histiocytosis Juvenile xanthogranuloma Hemophagocytic lymphohistiocytosis Erdheim-Chester disease Niemann–Pick disease Sea-blue histiocyte Benign cephalic histiocytosis Generalized eruptive histiocytoma Xanthoma disseminatum Progressive nodular histiocytosis Papular xanthoma Hereditary progressive mucinous histiocytosis Reticulohistiocytosis ( Multicentric reticulohistiocytosis , Reticulohistiocytoma ) Indeterminate cell histiocytosis WHO-III/ malignant histiocytosis Histiocytic sarcoma Langerhans cell sarcoma Interdigitating dendritic cell sarcoma Follicular dendritic cell sarcoma Ungrouped Rosai–Dorfman disease This cutaneous condition article is a stub .
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Mitochondrial Complex I Deficiency, Nuclear Type 22
Omim
Clinical Features Hoefs et al. (2011) reported a boy with mitochondrial complex I deficiency nuclear type 22 manifesting as Leigh syndrome (see 256000). The patient showed delayed psychomotor development after a normal neonatal period, hypotonia, increased serum and CSF lactate, periods of abnormal breathing, and hypertrophic cardiomyopathy. ... Molecular Genetics In a boy mitochondrial complex I deficiency manifesting as Leigh syndrome, Hoefs et al. (2011) identified compound heterozygosity for 2 mutations in the NDUFA10 gene: M1V, 603835.0001 and Q142R (603835.0002). ... INHERITANCE - Autosomal recessive GROWTH Other - Intrauterine growth retardation CARDIOVASCULAR Heart - Hypertrophic cardiomyopathy Vascular - Pulmonary hypertension RESPIRATORY - Respiratory insufficiency MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Developmental delay - Poor head control - Inability to sit or walk - White matter abnormalities consistent with Leigh syndrome METABOLIC FEATURES - Lactic acidosis LABORATORY ABNORMALITIES - Increased serum and CSF lactate - Mitochondrial complex I deficiency in various tissues MISCELLANEOUS - Onset in infancy - Early death may occur - Two unrelated patients have been reported (last curated January 2019) MOLECULAR BASIS - Caused by mutation in the NADH-ubiquinone oxidoreductase subunit A10 gene (NDUFA10, 603835.0001 ) ▲ Close
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Basopenia
Wikipedia
External links [ edit ] Classification D ICD - 10 : D72.8 ICD - 9-CM : 288.59 v t e Diseases of monocytes and granulocytes Monocytes and macrophages ↑ -cytosis : Monocytosis Histiocytosis Chronic granulomatous disease ↓ -penia : Monocytopenia Granulocytes ↑ -cytosis : granulocytosis Neutrophilia Eosinophilia / Hypereosinophilic syndrome Basophilia Bandemia ↓ -penia : Granulocytopenia/agranulocytosis ( Neutropenia / Severe congenital neutropenia / Cyclic neutropenia Eosinopenia Basopenia ) Disorder of phagocytosis Chemotaxis and degranulation Leukocyte adhesion deficiency LAD1 LAD2 Chédiak–Higashi syndrome Neutrophil-specific granule deficiency Respiratory burst Chronic granulomatous disease Neutrophil immunodeficiency syndrome Myeloperoxidase deficiency This article about a disease of the blood or immune system is a stub .
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Polr3-Related Leukodystrophy
Gene_reviews
These include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). ... An infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have pathogenic variants in POLR3A on exome sequencing. ... MRI of the brain of an individual with molecularly confirmed 4H syndrome A. Sagittal T 1 -weighted image (midline) showing cerebellar atrophy (arrowhead) as well as a thin corpus callosum (arrow). ... All affected individuals undergoing EMG and nerve conduction studies had normal results [Author, personal observation]. Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome). ... A single female infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have biallelic truncating pathogenic variants in POLR3A [Jay et al 2016].
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G6pc3 Deficiency
Gene_reviews
G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic) Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities) Severe G6PC3 deficiency (classic G6PC3 deficiency plus involvement of non-myeloid hematopoietic cell lines, additional extra-hematologic features, and pulmonary hypertension; known as Dursun syndrome) Neutropenia usually presents with recurrent bacterial infections in the first few months of life. ... An estimate based on a single nonsystematic study in which Boztug et al [2012] sequenced G6PC3 in individuals with syndromic forms of congenital neutropenia. 5. ... Of those with classic disease, a subset is more severely affected (so-called Dursun syndrome), because of the additional involvement of myeloid cells, primary pulmonary hypertension developing in the newborn period, and minor dysmorphic features. ... Experience with adults is limited but older patients have a tendency to develop varicose veins and venous ulcers. In Dursun syndrome early-onset primary pulmonary hypertension can be difficult to control [Dursun et al 2009]. ... Inherited conditions in which neutropenia may be part of a multisystem disorder Barth syndrome Cartilage-hair hypoplasia Charcot-Marie-Tooth disease caused by mutation of DNM2 (OMIM 606482) Chediak-Higashi syndrome Clericuzio poikiloderma with neutropenia Cohen syndrome Glycogen storage disease type 1b Griscelli syndrome type 2 (OMIM 607624) Hermansky-Pudlak syndrome type 2 Immunodeficiency due to defect in MAPBP-interacting protein (P14 deficiency) (OMIM 610798) Pearson syndrome Shwachman-Diamond syndrome WHIM syndrome (OMIM 193670) Wiskott-Aldrich syndrome Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with G6PC3 deficiency, the following evaluations are recommended: Full blood count to look for evidence of other hematologic involvement (i.e., intermittent thrombocytopenia and/or lymphopenia) Immunologic evaluation for T-cell subsets in individuals with a more severe presentation and unusual non-bacterial infections Consultation with a cardiologist to evaluate for congenital heart disease Renal and pelvic ultrasound examination to look for urogenital malformations Growth parameters in children and pubertal development in adolescents Age appropriate endocrine assessment for evidence of the hormone deficiencies reported (i.e., growth hormone, gonadotropins, thyroid hormone) Biochemical investigations to look for abnormalities in the lipid profile Consultation with a clinical geneticist and/or genetic counselor Treatment of Manifestations Neutropenia .
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Supraventricular Tachycardia
Wikipedia
Specialty Cardiology Symptoms Palpitations , feeling faint, sweating, shortness of breath , chest pain . [1] Types Atrial fibrillation , paroxysmal supraventricular tachycardia (PSVT), atrial flutter , Wolff-Parkinson-White syndrome [2] Causes Re-entry or increased cardiac muscle automaticity [3] Diagnostic method Electrocardiogram (ECG), holter monitor , event monitor [4] Treatment Medications, medical procedures, surgery [5] Frequency ~3% [6] [7] [8] Supraventricular tachycardia ( SVT ) is an abnormally fast heart rhythm arising from improper electrical activity in the upper part of the heart . [2] There are four main types: atrial fibrillation , paroxysmal supraventricular tachycardia (PSVT), atrial flutter , and Wolff–Parkinson–White syndrome . [2] Symptoms may include palpitations , feeling faint, sweating, shortness of breath , or chest pain . [1] They start from either the atria or atrioventricular node . [2] They are generally due to one of two mechanisms: re-entry or increased automaticity . [3] The other type of fast heart rhythm is ventricular arrhythmias —rapid rhythms that start within the ventricle . [2] Diagnosis is typically by electrocardiogram (ECG), holter monitor , or event monitor . [4] Blood tests may be done to rule out specific underlying causes such as hyperthyroidism or electrolyte abnormalities . [4] Specific treatments depend on the type of SVT. [5] They can include medications, medical procedures, or surgery. [5] Vagal maneuvers or a procedure known as catheter ablation may be effective in certain types. [5] For atrial fibrillation calcium channel blockers or beta blockers may be used. [5] Long term some people benefit from blood thinners such as aspirin or warfarin . [5] Atrial fibrillation affects about 25 per 1000 people, [7] paroxysmal supraventricular tachycardia 2.3 per 1000, [6] Wolff-Parkinson-White syndrome 2 per 1000, [8] and atrial flutter 0.8 per 1000. [9] Contents 1 Signs and symptoms 2 Pathophysiology 3 Diagnosis 3.1 Classification 4 Prevention 5 Treatment 6 Notable cases 7 References 8 External links Signs and symptoms [ edit ] Sound of a teen's heart during tachycardia. ... These symptoms may be subtle and may be accompanied by vomiting and/or a decrease in responsiveness. [10] Pathophysiology [ edit ] Mechanisms of supraventricular tachycardias The main pumping chamber, the ventricle , is protected (to a certain extent) against excessively high rates arising from the supraventricular areas by a "gating mechanism" at the atrioventricular node , which allows only a proportion of the fast impulses to pass through to the ventricles. In Wolff-Parkinson-White syndrome , a "bypass tract" avoids this node and its protection and the fast rate may be directly transmitted to the ventricles. ... One portion of the circuit is usually the AV node, and the other, an abnormal accessory pathway (muscular connection) from the atria to the ventricle. Wolff-Parkinson-White syndrome (WPW) is a relatively common abnormality with an accessory pathway, the bundle of Kent crossing the AV valvular ring . ... While each belongs to the broad classification of SVT, the specific term/diagnosis is preferred when possible: Sinoatrial origin: Sinoatrial nodal reentrant tachycardia (SNRT) Atrial origin: Ectopic (unifocal) atrial tachycardia (EAT) Multifocal atrial tachycardia (MAT) Atrial fibrillation with rapid ventricular response Atrial flutter with rapid ventricular response (Without rapid ventricular response, fibrillation and flutter are usually not classified as SVT) Atrioventricular origin (junctional tachycardia): AV nodal reentrant tachycardia (AVNRT) or junctional reciprocating tachycardia (JRT) Permanent (or persistent) junctional reciprocating tachycardia (PJRT), a form of JRT that occurs predominantly in infants and children but can occasionally occur in adults AV reciprocating tachycardia (AVRT) – visible or concealed (including Wolff-Parkinson-White syndrome ) Junctional ectopic tachycardia (JET) Prevention [ edit ] This section does not cite any sources . ... External links [ edit ] Classification D ICD - 10 : I47.1 ICD - 9-CM : 427.89 , 427.0 MeSH : D013617 Cardiac Disorders – Open Directory Project v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic feverCACNA1D, KCNJ2, HCN4, RANGRF, KCNE5, GPD1L, PKP2, AKAP9, ABCC9, RYR1, KCNJ8, SCN1B, SCN2B, SCN5A, SCN10A, SLMAP, LMNA, NAA10, KCNE3, CACNA2D1, JAK2, TRPM4, CACNA1C, SCN3B, CACNA1S, KCND3, CALM2, CACNB2, CALR, PRSS27, FSD1L, FSD1, CAP2, TNNI3K, ACTB, PROC, PTPN11, PROS1, SERPINC1, NPPC, MTHFR, MPL, MPI, IL6, IFNB1, GJA1, CPB2, CHI3L1, BCS1L, ZNF469
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Xp11.2 Duplication
Wikipedia
Additional consideration is warranted with regards to the syndromic nature of its phenotypic association. ... Retrieved 2018-02-28 . ^ "Microduplication Xp11.22-p11.23 syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability" . ... "HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study" . ... "Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3".
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Neutropenia
Wikipedia
Causes can be divided into these groups: [1] [2] [11] [12] Chronic neutropenia: Aplastic anemia Evans syndrome Felty syndrome Systemic lupus erythematosus HIV/AIDS infection Glycogen storage disease Cohen syndrome Congenital immunological disorder, e.g. ELA2 mutation, GATA2 deficiency Barth syndrome Copper deficiency Vitamin B 12 deficiency Pearson syndrome Pudlak syndrome Transient neutropenia: Typhoid Tuberculosis Cytomegalovirus Influenza [2] Human Immunodeficiency Virus [2] Propylthiouracil Levamisole Penicillamine Trimethoprim/sulfamethoxazole Clozapine Valproate Vaccination Severe bacterial infections, especially in people with underlying hematological diseases or alcoholism , can deplete neutrophil reserves and lead to neutropenia. [2] Gram-positive bacteria are present in 60–70% of bacterial infections. ... However, nutritional deficiencies are usually associated with decreases in other cell lines (multiple cytopenia or pancytopenia) rather than isolated neutropenia. [2] Other causes of congenital neutropenia are Shwachman–Diamond syndrome , Cyclic neutropenia, bone marrow failure syndromes, cartilage–hair hypoplasia, reticular dysgenesis, and Barth syndrome . ... Mortality increases during cancer treatments if neutropenia is also present. [6] Congenital neutropenia is determined by blood neutrophil counts (absolute neutrophil counts or ANC) < 0.5 × 10 9 /L and recurrent bacterial infections beginning very early in childhood. [16] Congenital neutropenia is related to alloimmunization , sepsis, maternal hypertension , twin-to-twin transfusion syndrome , and Rh hemolytic disease . [1] Diagnosis [ edit ] P anca Neutropenia can be the result of a variety of consequences, including from certain types of drugs, environmental toxins, vitamin deficiencies, metabolic abnormalities, as well as cancer or infections. ... Results published demonstrated only 1% of those evaluated were neutropenic, and were commonly seen in those suffering from HIV, viral infections, acute leukemias, and myelodysplastic syndromes . The study concluded the presence of neutropenia is an ominous sign that warrants further investigation and follow-up. [29] See also [ edit ] Pancytopenia Thrombocytopenia References [ edit ] ^ a b c d e f g h i j Ohls, Robin (2012).ELANE, JAGN1, HTRA2, UGT1A1, SMARCD2, ABCB1, GATA1, CSF3, AP3D1, TCN2, GFI1, DPYD, CSF2, TPMT, STAT3, MTHFR, IFNA2, IL1B, NUP98, RPS14, FCGR2B, TNFRSF10A, HOXD13, C5AR1, G6PC3, C5, PTAFR, CSF3R, HAX1, SLC37A4, CD40LG, WAS, AP3B1, CXCR4, VPS13B, KRAS, IFNG, BTK, SBDS, ERCC2, USB1, GATA2, STAT5B, PML, FMO3, CD79B, NRAS, PRKAR1A, SRP54, VPS45, GINS1, PRF1, SLC35A1, PIK3R1, TET2, MAD2L2, LAMTOR2, BCOR, FANCG, FANCE, FANCD2, FANCC, PCCB, SMARCAL1, NPM1, IGHM, IRAK4, CIITA, MMACHC, COG4, MSN, SF3B1, TDP2, MMUT, HBB, PGM3, GTF2E2, NUMA1, FANCI, IL7R, PRDX1, GSS, PCCA, IGLL1, GPT, FANCA, RFXANK, ABCD4, MMAA, MECOM, TERT, TFR2, SLC46A1, CD79A, CD40, DNAJC21, MPLKIP, TFRC, EIF2AK3, RECQL4, UBE2A, TCF3, UGT1A, ATRX, SAMD9L, MMAB, WIPF1, IRF2BP2, ZBTB16, RNF113A, GTF2H5, AGA, STX11, LYST, TERC, RPL18, RPS7, RAB27A, LMBRD1, ERCC3, RARA, RFX5, RFXAP, RMRP, LRRC8A, RPL11, BLNK, RPL26, SEC61A1, TBL1XR1, FIP1L1, STK4, CLPB, TCIRG1, NABP1, EFL1, RPS17, CDA, DHDDS, THAS, CHPT1, CRP, UGT1A6, TAZ, SLC35A2, SLC17A5, ANC, IFNA13, UGT1A7, UGT1A4, UGT1A10, IFNA1, ABCC2, UGT1A8, ABCG2, IL6, TFF1, CDK4, ERCC1, SLCO1B1, CYP3A5, MBL2, TP53, G6PC, NCAM1, GSTP1, TYMS, CXCL1, ALB, CD177, GSTM1, NUDT15, ACKR1, ITPA, IL11, UGGT1, EPO, TDP1, F2, SLC29A1, CXCL12, BCL2, BRCA1, RRM1, FCGR3B, ABCC4, CYP3A4, TNF, CYP2C8, SLC28A1, CTLA4, CAMP, CASP3, BOC, FCGR3A, UGT1A9, MTX1, JAK2, HMOX1, ADA2, UGT1A3, MDM2, GSTT1, PAEP, LEF1, XPC, XRCC1, GEM, PIK3CA, PIK3CB, PIK3CD, SLCO1B3, PIK3CG, UGT1A5, CDAN1, ABCC1, RN7SL263P, NOTCH2NLB, TNFSF10, TNFRSF10C, NOTCH2NLC, CXADRP1, SLCO1B7, MIR146B, PSTPIP1, TMTC3, ARTN, SOCS3, NOTCH2NLA, DLEU2, DDX53, ASXL1, NR1I2, BTBD8, DIRAS1, CREBZF, TIMM50, ABCG1, SLC45A2, DKK3, B3GAT1, TP63, JPT1, ASF1A, CYP39A1, REV1, KRT20, WDHD1, SLC27A5, YME1L1, MERTK, SEPTIN3, AICDA, NCOA5, N4BP2L2, GPSM3, SLC28A3, TRIM13, HUWE1, ABCC5, NOD2, NR1I3, PPP6R2, LPIN2, MCPH1, PARP9, ABCC10, AOC1, PSMD3, IKBKG, ZRSR2, CXADR, CYP1B1, CYP2A6, CYP2B6, CYP2C19, CYP2C9, DAPK1, DCTD, ACE, DDIT3, DHFR, NQO1, DNM2, EGFR, SERPINB1, ELAVL1, ERBB2, ERCC4, ERCC5, ESR1, F3, FCGR1A, FH, FHL3, FOXC1, FLT3, FLT3LG, CTNNB1, CSF1, CPB1, BCHE, ACTB, ADK, ADM, PARP1, GRK3, AGRP, ALK, APEX1, ABCC6, ARR3, ATP12A, ATP4A, BRAF, CHD2, BRCA2, C3, CASP8, CASR, CD19, MS4A1, CD34, CDAN3, CDC42, CEL, CES1, CGA, FUS, UTS2R, CXCL2, STAT2, ABO, PTK2, PXN, RPS15, CCL2, SELE, SELP, SHBG, SLC22A1, SMN1, SMN2, SPG7, TRBV20OR9-2, PDE4B, TGFB1, THPO, TLR2, TLR4, TOP1, TRAF6, TNFRSF4, UMPS, VIP, ZIC3, KAT6A, SLC7A5, PLK1, PDCD1, MSH6, IMPDH2, HLA-B, HLA-DQB1, HLA-DRB1, HMMR, HNF4A, ICAM1, IDUA, CFI, IFNAR1, IFNB1, IL6R, IL10, ITGAM, PAK3, EIF6, JAK1, KIT, MCL1, MET, MMP2, MMP9, MPP3, MS, MT1E, MTR, NOTCH2, SLCO1B3-SLCO1B7
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Bowel Obstruction
Wikipedia
Causes of small bowel obstruction include: [2] Adhesions from previous abdominal surgery (most common cause) Barbed sutures [8] Pseudoobstruction Hernias containing bowel Crohn's disease causing adhesions or inflammatory strictures Neoplasms , benign or malignant Intussusception Volvulus Superior mesenteric artery syndrome , a compression of the duodenum by the superior mesenteric artery and the abdominal aorta Ischemic strictures Foreign bodies (e.g. gallstones in gallstone ileus , swallowed objects such as expandable water toys ) Intestinal atresia After abdominal surgery, the incidence of small bowel obstruction from any cause is 9%. ... Play media Small bowel obstruction on ultrasound. [15] Play media Small bowel obstruction on ultrasound. [15] Small bowel obstruction on ultrasound. [15] Differential diagnosis [ edit ] Differential diagnoses of bowel obstruction include: Ileus Pseudo-obstruction or Ogilvie's syndrome Intra-abdominal sepsis Pneumonia or other systemic illness [ citation needed ] . ... External links [ edit ] Obstruction, Small Bowel at eMedicine Obstruction, Large Bowel at eMedicine Classification D ICD - 10 : K56 ICD - 9-CM : 560 MeSH : D007415 DiseasesDB : 15838 External resources MedlinePlus : 000260 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 PneumoperitoneumSLC6A14, SLC26A9, SLC9A3, IL10, PTGS2, EDNRB, RET, IL6, NOTCH3, MYC, MVK, TRNS1, TRNW, APC, TRNQ, TRNL1, TRNH, TRNF, ND6, TRNS2, PDGFRB, NRTN, PDGFRA, ND4, PRTN3, SDHA, SDHB, SDHC, SDHD, SOX10, PTPN22, STK11, TBCE, TNFRSF1A, ND5, ND1, SEMA3C, HLA-DPB1, CTNNB1, CD55, ECE1, EDN3, ERCC2, F5, GDNF, COX3, SEMA3D, HLA-DPA1, INHBA, JAK2, JAK3, KIT, MEFV, NOD2, MITF, COX1, COX2, CTLA4, CFTR, BDNF, GGTLC3, GGT2, ACSBG1, BDNF-AS, GGTLC5P, WDR11, CHPT1, DHDDS, RAPH1, TREH, ALB, PTGES, LAP, TYMS, SST, RMRP, NGF, KITLG, SMAD1, KDR, GUCY2C, GUCA2B, GGT1, CRP, CLCA1, BMP4, GGTLC4P