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Auditory Neuropathy Spectrum Disorder
Gard
ANSD can be associated with other neurological disorders such as Friedrich ataxia , Stevens-Johnson syndrome , Ehlers-Danlos syndrome , and Charcot-Marie-Tooth syndrome .
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Childhood Apraxia Of Speech
Gard
.), and other cases occur as part of a complex neurobehavioral disorder (such as autism, epilepsy, fragile X syndrome , galactosemia , Rett syndrome , Prader-Willi syndrome or certain types of chromosome abnormalities).FOXP2, BCL11A, ZGRF1, CSE1L, TMX2-CTNND1, CTNND1, BCAR1, FOXP1, CRP, MMP12, MMP3, CCL2, TP53, TNF, TIMP4, TRBV20OR9-2, SHBG, NLRP3, PSD, VCP, PRKCI, PON1, PLXNA2, PECAM1, TXN, IL1R2, XDH, MIR145, APLN, SELENBP1, NOS3, MYL9, ERC1, POT1, CNTNAP2, LINC01672, B3GAT1, GAL, CCR2, MIR383, CCHCR1, NUCB2, SERPINA3, NDP, FCGR3B, FASN, EDN1, ACE, CYLD, CTNNB1, CST3, CHRNA4, CHI3L1, CTSC, CD34, CD28, CAV1, CASP1, APOE, APOB, FCGR3A, GALT, MYLK, HTC2, ALDH2, MTHFR, MMP9, MMP2, LRP1, LPA, LGALS1, LCN2, KLK1, KIT, IL18, CXCR2, CXCL8, IL6, IL1B, MYL2
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Pheochromocytoma
Gard
This type of tumor can occur in certain familial genetic syndromes, including multiple endocrine neoplasia, type 2 (MEN2), neurofibromatosis type 1 , Von Hippel-Lindau disease , hereditary paraganglioma-pheochromocytoma syndrome , Carney triad , and Carney-Stratakis dyad . There are also several genes that have been associated with pheochromocytoma when it does not occur as part of a syndrome.RET, MAX, VHL, TMEM127, SDHB, SDHD, GDNF, KIF1B, TP53, SDHC, CHGA, TH, NF1, DBH, EGLN1, DDC, COMT, MAOA, MAOB, DMBT1, CCND1, FH, DLST, NGF, POMC, SST, PRKAR1A, SARDH, SORD, CALCA, SDHA, EPAS1, SDS, ADM, SDHAF2, CRYGD, VEGFA, PNMT, CDKN1B, MEN1, SMUG1, HIF1A, MYC, NPY, IGF2, MDH2, STMN1, IL6, PMPCA, HSP90AA1, NTRK1, SSTR2, CRH, TERT, BCL2, CDKN2A, SCARB1, HRAS, SLC6A2, APP, UTS2, MTOR, REN, FLT1, KIT, SNCA, ADCYAP1, HTC2, SCG2, EPO, MT1A, PIK3CG, PIK3CD, PIK3CB, PIK3CA, DRD2, PENK, EGLN3, RASSF1, SYP, IDH2, HSPA4, IGF1, IGF1R, TERC, PHOX2B, TNF, DCTN6, UCP1, GALR2, PTPRF, PSMD9, VIPR1, PRDM2, BAP1, MKI67, ZNRD2, H3P10, EGLN2, BRAF, MIB1, EGF, FGF21, CPE, CHGB, TICAM2, CASP3, MIR183, FGFR1, MIR210, AGTR2, AGT, PARP1, TMED7-TICAM2, RAB4B-EGLN2, H3P23, EPOR, IFI27, SETD2, GSK3B, TMED7, GHRL, GAL, ADIPOR1, UTS2R, GIPC1, VIP, TTR, TWIST1, TXN, VBP1, MIR15A, MALAT1, MIR22, ANGPTL4, VIPR2, ZACN, SOX2-OT, HSD17B13, H19, HYLS1, KMT2D, GPR68, STAR, MIR96, TRPC6, PDE11A, PGR-AS1, SYT1, CD274, ELOB, ELOA, HNF1B, QPCT, MIR1225, TGFA, CNTN4, MIR541, CDKN2B-AS1, MIR765, TGM2, POTEF, TIMP2, TIMP3, MIR374A, FSIP1, TDRD9, MEG3, SDHAF3, BMS1, DGCR2, HDAC6, ABCB6, DNM1L, PTPRU, SLC17A6, ACKR3, KRT20, RETN, MZB1, FARP1, RNF41, CALCRL, CTNNBL1, MPZL2, RAMP2, CIB1, HPSE, MAML3, RGS6, DHRS11, GDE1, ADIPOQ, UCN3, CUL4A, CUL2, FNDC3A, CBX4, PDE8B, NCOA1, PDE5A, HSD17B7, CGB8, ARTN, AIP, CGB5, CLDN10, RASSF5, DIRAS3, TET1, ARHGEF1, ADIPOR2, RWDD3, ACACA, SSTR5, EDNRA, EGFR, EMP3, ENPEP, EPHA3, ERBB2, ERV3-1, ESRRA, ETS1, FGFR3, FOXM1, FN1, G6PD, GAP43, GATA3, GATA4, GCG, GCGR, GHRHR, GLP1R, GNAS, GNRH1, NR3C1, GUSB, HCRTR1, HIC1, HPR, HTR4, IDH1, IFNG, EDNRB, EDN1, SSTR1, ACE, ACTB, ACVR1, ACVR1B, ADCYAP1R1, AGRP, AGTR1, AKT1, APC, BIRC5, APRT, ASCL1, ATRX, BDNF, BMP7, CA9, CASP8, CAT, SERPINH1, CBS, MS4A1, CDC42, CDH1, CDKN2C, CGA, CGB3, COL11A2, CRP, CS, MAPK14, IGFBP1, IGFBP2, IL1A, IL5, PKD2, PLAGL1, PMCH, ACO1, PPARG, MAPK3, MAPK8, PTEN, PTH, PTGS2, RAB6A, RAC1, RASA1, RBP3, REG1A, RPS6KB1, RPS6KB2, S100A12, SCTR, CCL7, CX3CL1, CXCL12, SIM2, SLC6A3, SLC18A2, SMPD1, SNAI1, SNAP25, SRC, SLC25A3, ABCB1, PDYN, MITF, INSR, IRF3, ISL1, KCNJ5, KDR, KRT6B, KRT17, L1CAM, LEP, LEPR, LGALS3, MFAP1, MGMT, MLH1, SLC26A4, MMP9, MOS, MSH2, MYCL, NFE2L2, NOTCH1, NRTN, NTS, GPR143, PCDHGC3, PCSK2, PDC, PDGFRB, POU4F1
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Hemoglobin E-Beta-Thalassemia Syndrome
Orphanet
Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms). Epidemiology Prevalence of this form is not known but HbE - beta-thalassemia is predominant in Southeast Asia. Clinical description Mild HbE - BT (about 15% of cases) is characterized by normal Hb levels (9-12 g/dl) and patients usually do not develop clinically significant symptoms. No treatment is required. Moderately severe forms (most cases) are characterized by decreased Hb levels (6-8 g/dl) and the clinical manifestations are similar to those of beta-thalassemia intermedia. Transfusions are not required unless infections precipitate further anemia.
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Mantle Cell Lymphoma
Wikipedia
External links [ edit ] Classification D ICD - 10 : C83.1 ICD - 9-CM : 200.4 ICD-O : M9673/3 MeSH : D020522 External resources eMedicine : med/1361 v t e Leukaemias , lymphomas and related disease B cell ( lymphoma , leukemia ) (most CD19 CD20 ) By development/ marker TdT+ ALL ( Precursor B acute lymphoblastic leukemia/lymphoma ) CD5 + naive B cell ( CLL/SLL ) mantle zone ( Mantle cell ) CD22 + Prolymphocytic CD11c+ ( Hairy cell leukemia ) CD79a + germinal center / follicular B cell ( Follicular Burkitt's GCB DLBCL Primary cutaneous follicle center lymphoma ) marginal zone / marginal zone B-cell ( Splenic marginal zone MALT Nodal marginal zone Primary cutaneous marginal zone lymphoma ) RS ( CD15 +, CD30 +) Classic Hodgkin lymphoma ( Nodular sclerosis ) CD20+ ( Nodular lymphocyte predominant Hodgkin lymphoma ) PCDs / PP ( CD38 +/ CD138 +) see immunoproliferative immunoglobulin disorders By infection KSHV ( Primary effusion ) EBV Lymphomatoid granulomatosis Post-transplant lymphoproliferative disorder Classic Hodgkin lymphoma Burkitt's lymphoma HCV Splenic marginal zone lymphoma HIV ( AIDS-related lymphoma ) Helicobacter pylori ( MALT lymphoma ) Cutaneous Diffuse large B-cell lymphoma Intravascular large B-cell lymphoma Primary cutaneous marginal zone lymphoma Primary cutaneous immunocytoma Plasmacytoma Plasmacytosis Primary cutaneous follicle center lymphoma T/NK T cell ( lymphoma , leukemia ) (most CD3 CD4 CD8 ) By development/ marker TdT+ : ALL ( Precursor T acute lymphoblastic leukemia/lymphoma ) prolymphocyte ( Prolymphocytic ) CD30+ ( Anaplastic large-cell lymphoma Lymphomatoid papulosis type A ) Cutaneous MF+variants indolent: Mycosis fungoides Pagetoid reticulosis Granulomatous slack skin aggressive: Sézary disease Adult T-cell leukemia/lymphoma Non-MF CD30 -: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma Pleomorphic T-cell lymphoma Lymphomatoid papulosis type B CD30 +: CD30+ cutaneous T-cell lymphoma Secondary cutaneous CD30+ large-cell lymphoma Lymphomatoid papulosis type A Other peripheral Hepatosplenic Angioimmunoblastic Enteropathy-associated T-cell lymphoma Peripheral T-cell lymphoma not otherwise specified ( Lennert lymphoma ) Subcutaneous T-cell lymphoma By infection HTLV-1 ( Adult T-cell leukemia/lymphoma ) NK cell / (most CD56 ) Aggressive NK-cell leukemia Blastic NK cell lymphoma T or NK EBV ( Extranodal NK-T-cell lymphoma / Angiocentric lymphoma ) Large granular lymphocytic leukemia Lymphoid+ myeloid Acute biphenotypic leukaemia Lymphocytosis Lymphoproliferative disorders ( X-linked lymphoproliferative disease Autoimmune lymphoproliferative syndrome ) Leukemoid reaction Diffuse infiltrative lymphocytosis syndrome Cutaneous lymphoid hyperplasia Cutaneous lymphoid hyperplasia with bandlike and perivascular patterns with nodular pattern Jessner lymphocytic infiltrate of the skin General Hematological malignancy leukemia Lymphoproliferative disorders Lymphoid leukemias v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22 Medicine portalATM, CCND1, PIK3CD, MTOR, NOTCH1, WNT3, WNT10A, GSK3B, UBR5, CTNNB1, ARHGAP29, EIF4EBP1, EIF4E, BIRC3, AK1, SYK, MYC, BCL2, C11orf65, BTK, TP53, SOX11, IGH, KRT20, MS4A1, MME, CCND2, MDM2, CDKN2A, FCER2, MCL1, CLEC4D, PIK3CG, PIK3CB, FH, EZH2, PIK3CA, SMUG1, BCL2L11, STAT3, HSP90AA1, PMAIP1, AICDA, CDK4, BMI1, PSMD9, PARP1, TMED7-TICAM2, RTEL1, CD19, TMED7, H3P23, IFI27, IGHV3-69-1, PRMT5, CDR3, COMMD3-BMI1, BCL6, DCTN6, CHEK1, TICAM2, XPO1, ZNRD2, CD200, LOC102723407, BACH2, ATR, MALT1, IL10, IGHV3OR16-7, LOC102724971, RB1, HILPDA, CD5, LEF1, IBTK, RAD1, IGK, CCND3, PAX5, IGF1, MIR16-1, HTC2, TNFRSF10A, VEGFA, MIR155, AKT1, MIR17, CDKN2B, CDKN1B, SLC29A1, TNF, TCL1A, MIR17HG, TERT, ZEB1, CD40LG, H3P9, HDAC6, AURKB, HACD1, WNT5A, CXCR4, HAGLROS, IGF2BP3, USP2, SORBS1, MRPL28, SOCS3, CAP1, CFDP1, ABCG2, KMT2D, APOBEC3B, TCL1B, LOC110806263, BCL10, DLEU2, CD83, ARID1A, PDZK1IP1, CDC42BPA, CNTNAP1, TNFSF10, LOC105379528, KLF4, PDE7B, TNFSF13B, TP53INP1, E2F8, MIR615, CD276, DOHH, ARHGAP24, ATRIP, CARD11, MIR506, GLIS2, DNER, BMS1P20, RGS18, MIR18B, BTLA, CCDC50, CBLL2, MIR223, LINC01139, SLC35B2, MALAT1, LOC390714, MIR15A, MUL1, MIR92B, SUB1, HPGDS, PIM2, TPX2, BRD4, SUZ12, PRAME, ROR1-AS1, MLSM7, FBXO10, GREM1, MIR15B, NXT1, GAS5, GEMIN4, CRBN, IGLL5, MS4A4A, PAG1, PBK, WEE1, MIB1, IL21, MEF2B, ADAM10, CCL19, LAT2, GNAZ, EIF4G2, CTTN, ESR2, EZH1, FASN, FCGR3A, FOXO1, FOXO3, FMOD, FUT1, GATA6, GLI1, CXCR3, LNPEP, GPT, GSTP1, HDAC1, HSPA5, IGF2, IGLV@, IL2, IL4, IL12A, IL12B, TNFRSF9, LAIR1, ATN1, DPP4, DNMT1, DCK, ALOX5, ANXA1, AR, BAX, BIK, PRDM1, BMP7, CASP8, RUNX2, CCNB1, CCNG1, CD28, CD36, CD40, CD70, CD74, CDK6, CDK7, CDKN1A, CTSC, CCR7, CNR1, CRP, CSF1R, CTAA1, LCK, LTB, VCP, SMARCA1, PTK2, NECTIN2, RAC1, RANGAP1, RGS13, SCN10A, CCL3, SDC1, CXCL12, SETMAR, SHH, SLC7A4, SOX4, MDM4, SOX12, ST14, STAT1, STAT5B, AURKA, MAP3K7, TAL1, TRBV20OR9-2, TGM2, TOP2A, TP73, NR2C2, PSMD2, MAPK8, PRELP, PPP2R1B, MIP, MKI67, MLH1, KMT2A, MMP9, MRC1, MSH2, MSX1, MT1A, MTAP, MYCN, NCL, NEDD8, NME1, NOTCH2, NTRK1, PRDX1, PRKN, SERPINA5, PDE3B, PECAM1, SERPINB6, PIM1, PLSCR1, PMS1, H3P10
- Corneal Dystrophy-Perceptive Deafness Syndrome Orphanet
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Fetal Valproate Syndrome
Gard
Fetal valproate syndrome (FVS) may occur if a developing baby is exposed to valproic acid during pregnancy.
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Paroxysmal Nonkinesigenic Dyskinesia
Wikipedia
Paroxysmal Nonkinesigenic Dyskinesia Other names PNKD, Paroxysmal dystonic choreoathetosis, PDC, Mount-Reback syndrome, [1] Nonkinesigenic choreoathetosis, Familial paroxysmal choreoathetosis, FPD1, DYT8 Specialty Neurology Paroxysmal Nonkinesigenic Dyskinesia ( PNKD ) is an episodic movement disorder first described by Mount and Reback in 1940 under the name "Familial paroxysmal choreoathetosis". [2] It is a rare hereditary disease that affects various muscular and nervous systems in the body, passing to roughly fifty percent of the offspring. ... Patients may also benefit from other benzodiazepines , phenobarbital , and other anticonvulsants such as valproic acid . [7] Affected individuals have reported garlic to be effective for softening the attacks, but no studies have been done on this. [4] References [ edit ] ^ "Mount-Reback syndrome" . ^ Mount, L. A.; Reback, S. : Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. ... Psychiat. 44: 841-847, 1940. ^ NCBI Bookshelf -- GeneReviews -- Familial Paroxysmal Nonkinesigenic Dyskinesia ^ a b c Archives of Neurology - Familial Paroxysmal Dystonic Choreoathetosis ^ Online Mendelian Inheritance in Man (OMIM): 118800 ^ WrongDiagnosis.com - Mount-Reback syndrome ^ Dyskinesias (Paroxysmal) - Treatment External links [ edit ] Classification D OMIM : 118800 MeSH : C537181 DiseasesDB : 32382
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Farmyard Pox
Wikipedia
ISBN 0-7216-2921-0 . v t e Skin infections , symptoms and signs related to viruses DNA virus Herpesviridae Alpha HSV Herpes simplex Herpetic whitlow Herpes gladiatorum Herpes simplex keratitis Herpetic sycosis Neonatal herpes simplex Herpes genitalis Herpes labialis Eczema herpeticum Herpetiform esophagitis Herpes B virus B virus infection VZV Chickenpox Herpes zoster Herpes zoster oticus Ophthalmic zoster Disseminated herpes zoster Zoster-associated pain Modified varicella-like syndrome Beta Human herpesvirus 6 / Roseolovirus Exanthema subitum Roseola vaccinia Cytomegalic inclusion disease Gamma KSHV Kaposi's sarcoma Poxviridae Ortho Variola Smallpox Alastrim MoxV Monkeypox CPXV Cowpox VV Vaccinia Generalized vaccinia Eczema vaccinatum Progressive vaccinia Buffalopox Para Farmyard pox : Milker's nodule Bovine papular stomatitis Pseudocowpox Orf Sealpox Other Yatapoxvirus : Tanapox Yaba monkey tumor virus MCV Molluscum contagiosum Papillomaviridae HPV Wart / plantar wart Heck's disease Genital wart giant Laryngeal papillomatosis Butcher's wart Bowenoid papulosis Epidermodysplasia verruciformis Verruca plana Pigmented wart Verrucae palmares et plantares BPV Equine sarcoid Parvoviridae Parvovirus B19 Erythema infectiosum Reticulocytopenia Papular purpuric gloves and socks syndrome Polyomaviridae Merkel cell polyomavirus Merkel cell carcinoma RNA virus Paramyxoviridae MeV Measles Togaviridae Rubella virus Rubella Congenital rubella syndrome ("German measles" ) Alphavirus infection Chikungunya fever Picornaviridae CAV Hand, foot, and mouth disease Herpangina FMDV Foot-and-mouth disease Boston exanthem disease Ungrouped Asymmetric periflexural exanthem of childhood Post-vaccination follicular eruption Lipschütz ulcer Eruptive pseudoangiomatosis Viral-associated trichodysplasia Gianotti–Crosti syndrome This infection-related cutaneous condition article is a stub .
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Atelosteogenesis, Type Iii
Omim
Clinical Features Stern et al. (1990) described 5 examples of a short-limb dwarfism syndrome with manifestations overlapping those of atelosteogenesis and otopalatodigital syndrome type II (304120). ... The authors reviewed 9 previously published cases to describe the syndrome more completely; they suggested that the physical and radiographic findings of AO3 and Larsen syndrome (150250) are quite similar, and that the disorders are probably allelic.
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8p23.1 Microdeletion Syndrome
Orphanet
Differential diagnosis Differential diagnosis includes monosomy 22q11 (velocardiofacial syndrome; see this term). Accurate chromosomal analysis confirms the differential diagnosis.
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Hereditary Cns Demyelinating Disease
Wikipedia
External links [ edit ] Classification D ICD - 9-CM : 330.0 MeSH : D020279 v t e Multiple sclerosis and other demyelinating diseases of the central nervous system Signs and symptoms Ataxia Depression Diplopia Dysarthria Dysphagia Fatigue Incontinence Nystagmus Optic neuritis Pain Uhthoff's phenomenon Investigations and diagnosis Multiple sclerosis diagnosis McDonald criteria Poser criteria Clinical Clinically isolated syndrome Expanded Disability Status Scale Serological and CSF Oligoclonal bands Radiological Radiologically isolated syndrome Lesional demyelinations of the central nervous system Dawson's fingers Approved [ by whom? ] treatment Management of multiple sclerosis Alemtuzumab Cladribine Dimethyl fumarate Fingolimod Glatiramer acetate Interferon beta-1a Interferon beta-1b Mitoxantrone Natalizumab Ocrelizumab Ozanimod Siponimod Teriflunomide Other treatments Former Daclizumab Multiple sclerosis research Demyleinating diseases Autoimmune Multiple sclerosis Neuromyelitis optica Diffuse myelinoclastic sclerosis Inflammatory Acute disseminated encephalomyelitis MOG antibody disease Balo concentric sclerosis Marburg acute multiple sclerosis Neuromyelitis optica Diffuse myelinoclastic sclerosis Tumefactive multiple sclerosis Experimental autoimmune encephalomyelitis Hereditary Adrenoleukodystrophy Alexander disease Canavan disease Krabbe disease Metachromatic leukodystrophy Pelizaeus–Merzbacher disease Leukoencephalopathy with vanishing white matter Megalencephalic leukoencephalopathy with subcortical cysts CAMFAK syndrome Other Central pontine myelinolysis Marchiafava–Bignami disease Mitochondrial DNA depletion syndrome Other List of multiple sclerosis organizations List of people with multiple sclerosis Multiple sclerosis drug pipeline Pathophysiology This article about a medical condition affecting the nervous system is a stub .
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Chondrolysis
Wikipedia
External links [ edit ] Chondrolysis at Radiopedia v t e Bone and joint disease Bone Inflammation endocrine : Osteitis fibrosa cystica Brown tumor infection : Osteomyelitis Sequestrum Involucrum Sesamoiditis Brodie abscess Periostitis Vertebral osteomyelitis Metabolic Bone density Osteoporosis Juvenile Osteopenia Osteomalacia Paget's disease of bone Hypophosphatasia Bone resorption Osteolysis Hajdu–Cheney syndrome Ainhum Gorham's disease Other Ischaemia Avascular necrosis Osteonecrosis of the jaw Complex regional pain syndrome Hypertrophic pulmonary osteoarthropathy Nonossifying fibroma Pseudarthrosis Stress fracture Fibrous dysplasia Monostotic Polyostotic Skeletal fluorosis bone cyst Aneurysmal bone cyst Hyperostosis Infantile cortical hyperostosis Osteosclerosis Melorheostosis Pycnodysostosis Joint Chondritis Relapsing polychondritis Other Tietze's syndrome Combined Osteochondritis Osteochondritis dissecans Child leg: hip Legg–Calvé–Perthes syndrome tibia Osgood–Schlatter disease Blount's disease foot Köhler disease Sever's disease spine Scheuermann's_disease arm: wrist Kienböck's disease elbow Panner disease v t e Inflammation Symptoms Flushing (Rubor) Fever (Calor) Swelling (Tumor) Pain (Dolor) Malaise Mechanism Acute Plasma-derived mediators Bradykinin complement C3 C5a MAC coagulation Factor XII Plasmin Thrombin Cell-derived mediators preformed: Lysosome granules biogenic amines Histamine Serotonin synthesized on demand: cytokines IFN-γ IL-8 TNF-α IL-1 eicosanoids Leukotriene B4 Prostaglandins Nitric oxide Kinins Chronic Macrophage Epithelioid cell Giant cell Granuloma Other Acute-phase reaction Vasodilation Increased vascular permeability Exudate Leukocyte extravasation Chemotaxis Tests Full blood count Leukocytosis C-reactive protein Erythrocyte sedimentation rate General Lymphadenopathy List of inflammed body part states This article about a disease of musculoskeletal and connective tissue is a stub .
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Roseola Vaccinia
Wikipedia
ISBN 0-7216-2921-0 . v t e Skin infections , symptoms and signs related to viruses DNA virus Herpesviridae Alpha HSV Herpes simplex Herpetic whitlow Herpes gladiatorum Herpes simplex keratitis Herpetic sycosis Neonatal herpes simplex Herpes genitalis Herpes labialis Eczema herpeticum Herpetiform esophagitis Herpes B virus B virus infection VZV Chickenpox Herpes zoster Herpes zoster oticus Ophthalmic zoster Disseminated herpes zoster Zoster-associated pain Modified varicella-like syndrome Beta Human herpesvirus 6 / Roseolovirus Exanthema subitum Roseola vaccinia Cytomegalic inclusion disease Gamma KSHV Kaposi's sarcoma Poxviridae Ortho Variola Smallpox Alastrim MoxV Monkeypox CPXV Cowpox VV Vaccinia Generalized vaccinia Eczema vaccinatum Progressive vaccinia Buffalopox Para Farmyard pox : Milker's nodule Bovine papular stomatitis Pseudocowpox Orf Sealpox Other Yatapoxvirus : Tanapox Yaba monkey tumor virus MCV Molluscum contagiosum Papillomaviridae HPV Wart / plantar wart Heck's disease Genital wart giant Laryngeal papillomatosis Butcher's wart Bowenoid papulosis Epidermodysplasia verruciformis Verruca plana Pigmented wart Verrucae palmares et plantares BPV Equine sarcoid Parvoviridae Parvovirus B19 Erythema infectiosum Reticulocytopenia Papular purpuric gloves and socks syndrome Polyomaviridae Merkel cell polyomavirus Merkel cell carcinoma RNA virus Paramyxoviridae MeV Measles Togaviridae Rubella virus Rubella Congenital rubella syndrome ("German measles" ) Alphavirus infection Chikungunya fever Picornaviridae CAV Hand, foot, and mouth disease Herpangina FMDV Foot-and-mouth disease Boston exanthem disease Ungrouped Asymmetric periflexural exanthem of childhood Post-vaccination follicular eruption Lipschütz ulcer Eruptive pseudoangiomatosis Viral-associated trichodysplasia Gianotti–Crosti syndrome This infection-related cutaneous condition article is a stub .
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Pigmented Wart
Wikipedia
ISBN 0-7216-2921-0 . v t e Skin infections , symptoms and signs related to viruses DNA virus Herpesviridae Alpha HSV Herpes simplex Herpetic whitlow Herpes gladiatorum Herpes simplex keratitis Herpetic sycosis Neonatal herpes simplex Herpes genitalis Herpes labialis Eczema herpeticum Herpetiform esophagitis Herpes B virus B virus infection VZV Chickenpox Herpes zoster Herpes zoster oticus Ophthalmic zoster Disseminated herpes zoster Zoster-associated pain Modified varicella-like syndrome Beta Human herpesvirus 6 / Roseolovirus Exanthema subitum Roseola vaccinia Cytomegalic inclusion disease Gamma KSHV Kaposi's sarcoma Poxviridae Ortho Variola Smallpox Alastrim MoxV Monkeypox CPXV Cowpox VV Vaccinia Generalized vaccinia Eczema vaccinatum Progressive vaccinia Buffalopox Para Farmyard pox : Milker's nodule Bovine papular stomatitis Pseudocowpox Orf Sealpox Other Yatapoxvirus : Tanapox Yaba monkey tumor virus MCV Molluscum contagiosum Papillomaviridae HPV Wart / plantar wart Heck's disease Genital wart giant Laryngeal papillomatosis Butcher's wart Bowenoid papulosis Epidermodysplasia verruciformis Verruca plana Pigmented wart Verrucae palmares et plantares BPV Equine sarcoid Parvoviridae Parvovirus B19 Erythema infectiosum Reticulocytopenia Papular purpuric gloves and socks syndrome Polyomaviridae Merkel cell polyomavirus Merkel cell carcinoma RNA virus Paramyxoviridae MeV Measles Togaviridae Rubella virus Rubella Congenital rubella syndrome ("German measles" ) Alphavirus infection Chikungunya fever Picornaviridae CAV Hand, foot, and mouth disease Herpangina FMDV Foot-and-mouth disease Boston exanthem disease Ungrouped Asymmetric periflexural exanthem of childhood Post-vaccination follicular eruption Lipschütz ulcer Eruptive pseudoangiomatosis Viral-associated trichodysplasia Gianotti–Crosti syndrome This infection-related cutaneous condition article is a stub .
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Generalized Vaccinia
Wikipedia
ISBN 0-7216-2921-0 . v t e Skin infections , symptoms and signs related to viruses DNA virus Herpesviridae Alpha HSV Herpes simplex Herpetic whitlow Herpes gladiatorum Herpes simplex keratitis Herpetic sycosis Neonatal herpes simplex Herpes genitalis Herpes labialis Eczema herpeticum Herpetiform esophagitis Herpes B virus B virus infection VZV Chickenpox Herpes zoster Herpes zoster oticus Ophthalmic zoster Disseminated herpes zoster Zoster-associated pain Modified varicella-like syndrome Beta Human herpesvirus 6 / Roseolovirus Exanthema subitum Roseola vaccinia Cytomegalic inclusion disease Gamma KSHV Kaposi's sarcoma Poxviridae Ortho Variola Smallpox Alastrim MoxV Monkeypox CPXV Cowpox VV Vaccinia Generalized vaccinia Eczema vaccinatum Progressive vaccinia Buffalopox Para Farmyard pox : Milker's nodule Bovine papular stomatitis Pseudocowpox Orf Sealpox Other Yatapoxvirus : Tanapox Yaba monkey tumor virus MCV Molluscum contagiosum Papillomaviridae HPV Wart / plantar wart Heck's disease Genital wart giant Laryngeal papillomatosis Butcher's wart Bowenoid papulosis Epidermodysplasia verruciformis Verruca plana Pigmented wart Verrucae palmares et plantares BPV Equine sarcoid Parvoviridae Parvovirus B19 Erythema infectiosum Reticulocytopenia Papular purpuric gloves and socks syndrome Polyomaviridae Merkel cell polyomavirus Merkel cell carcinoma RNA virus Paramyxoviridae MeV Measles Togaviridae Rubella virus Rubella Congenital rubella syndrome ("German measles" ) Alphavirus infection Chikungunya fever Picornaviridae CAV Hand, foot, and mouth disease Herpangina FMDV Foot-and-mouth disease Boston exanthem disease Ungrouped Asymmetric periflexural exanthem of childhood Post-vaccination follicular eruption Lipschütz ulcer Eruptive pseudoangiomatosis Viral-associated trichodysplasia Gianotti–Crosti syndrome This infection-related cutaneous condition article is a stub .
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Levocardia
Wikipedia
External links [ edit ] Classification D ICD - 10 : Q24.1 ICD - 9-CM : 746.87 MeSH : D007979 v t e Laterality Side Left Both Right General Ambidexterity In cognitive abilities Geschwind–Galaburda hypothesis In brain Brain asymmetry Dual brain theory Bicameralism In eyes Ocular dominance In hands Left-handedness Cross-dominance Right-handedness Handedness in boxing Southpaw stance Orthodox stance Handedness in people Musicians Handedness related to Sexual orientation Maths Handedness measurement Edinburgh Handedness Inventory Handedness genetics LRRTM1 In heart Levocardia Dextrocardia In major viscera Situs solitus Situs ambiguus Situs inversus In feet Footedness Footedness in surfing Regular foot Goofy foot v t e Congenital heart defects Heart septal defect Aortopulmonary septal defect Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window Atrial septal defect Sinus venosus atrial septal defect Lutembacher's syndrome Ventricular septal defect Tetralogy of Fallot Atrioventricular septal defect Ostium primum Consequences Cardiac shunt Cyanotic heart disease Eisenmenger syndrome Valvular heart disease Right pulmonary valves stenosis insufficiency absence tricuspid valves stenosis atresia Ebstein's anomaly Left aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation Other Underdeveloped heart chambers right left Uhl anomaly Dextrocardia Levocardia Cor triatriatum Crisscross heart Brugada syndrome Coronary artery anomaly Anomalous aortic origin of a coronary artery Ventricular inversion This article about a congenital malformation is a stub .
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Coprographia
Wikipedia
Semantic features and Tourette’s Syndrome . Retrieved November 21, 2006 . ... "Dude, you don't have Tourette's": Tourette's syndrome, beyond the tics. Pediatr Nurs. 2002 May-Jun;28(3):243-6, 249-53. ... Missing or empty |title= ( help ) v t e Tourette syndrome Main Causes and origins History Societal and cultural aspects Management Terms Coprolalia Copropraxia Echolalia Echophenomenon Echopraxia Palilalia Palipraxia PANDAS Premonitory urge Sensory phenomena Tic Tic disorder Tourettism People Jean-Martin Charcot Donald J. ... Shapiro Organizations Tourette Association of America Tourette Canada Tourettes Action Yale Child Study Center Media Front of the Class Hichki I Have Tourette's but Tourette's Doesn't Have Me John's Not Mad " Le Petit Tourette " Maze Motherless Brooklyn Quit It The Secret Life of Lele Pons The Tic Code Tic Talk: Living with Tourette Syndrome This article about a medical condition affecting the nervous system is a stub .
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Distal Trisomy 10q
Wikipedia
Sometimes it occurs spontaneously, in which case it is termed de novo . This syndrome has a large range of outcomes depending on how much chromosomal material is involved. ... Number of support groups do exist in the United States , where affected families can meet and discuss problems they encounter, possible treatments and can find emotional support. See also [ edit ] Down syndrome Turner syndrome Klinefelter's syndrome References [ edit ] ^ RESERVED, INSERM US14 -- ALL RIGHTS.
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Mitochondrial Complex I Deficiency, Nuclear Type 32
Omim
Brain imaging showed signal alterations in the midbrain, putamen, and thalamus, consistent with Leigh syndrome (see 256000) with later development of supratentorial and brainstem atrophy and cystic lesions. ... Laboratory studies showed increased serum and CSF lactate and lesions in the basal ganglia and internal capsule, consistent with Leigh syndrome. He died at age 15 months. Molecular Genetics In 2 unrelated children with mitochondrial complex I deficiency nuclear type 32 manifest as Leigh syndrome, Piekutowska-Abramczuk et al. (2018) identified compound heterozygous mutations in the NDUFB8 gene (602140.0001-602140.0004). ... INHERITANCE - Autosomal recessive GROWTH Other - Failure to thrive CARDIOVASCULAR Heart - Cardiac hypertrophy (1 of 2 patients) RESPIRATORY - Respiratory insufficiency MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed or absent psychomotor development - Poor interaction with environment - Seizures - White matter abnormalities consistent with Leigh syndrome seen on brain imaging - Supratentorial and brainstem atrophy METABOLIC FEATURES - Metabolic acidosis LABORATORY ABNORMALITIES - Increased serum lactate - Increased 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 B8 gene (NDUFB8, 602140.0001 ) ▲ Close