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Huntington Disease-Like 3
Orphanet
Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.
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Macrodactyly Of Toes
Orphanet
A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot.
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Malignant Migrating Focal Seizures Of Infancy
Orphanet
A rare, genetic, neonatal epilepsy syndrome disease characterized by onset in the first 6 months of life of almost continuous migrating polymorphous focal seizures with corresponding multifocal ictal electroencephalographic discharges, progressive deterioration of psychomotor development, and usually early mortality.
- Pulmonary Agenesis Orphanet
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Supratip Dysplasia
Orphanet
Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip.
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Autosomal Recessive Amelia
Orphanet
Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.
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Cochlear Nerve Deficiency
Orphanet
The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal.
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Congenital Absence Of Thigh And Lower Leg With Foot Present
Orphanet
Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.
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Acute Sensory Ataxic Neuropathy
Orphanet
A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination.
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L-Ferritin Deficiency
Orphanet
Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss.
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Camptodactyly Of Fingers
Orphanet
Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit.
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Congenital Aortopulmonary Window
Orphanet
A rare congenital non-syndromic heart malformation characterized by a communication between the ascending aorta and the pulmonary trunk in the presence of two normally formed semilunar valves.
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Aip Familial Isolated Pituitary Adenomas
Gene_reviews
They may have headaches, joint pain, carpal tunnel syndrome, sleeping difficulties, excessive sweating, hypertension, diabetes mellitus, and muscle weakness. ... Nomenclature Previously, pituitary adenoma predisposition (PAP) syndrome was used to refer to individuals who had an AIP pathogenic variant; the term is not used widely. ... Pituitary adenomas of genetic origin can be divided into isolated and syndromic categories. Familial Isolated Pituitary Adenomas (FIPA) FIPA is defined as a hereditary condition associated with pituitary adenomas and no other features of a syndrome known to be associated with pituitary adenomas. ... Cazabat et al [2009], Daly et al [2010], Igreja et al [2010] 5. Marques et al [2020] Syndromes Associated with Pituitary Tumors Table 4. Syndromes Associated with Pituitary Tumors View in own window Gene(s) Disorder MOI Pituitary Tumor Features Other Features MEN1 Multiple endocrine neoplasia type 1 (MEN1) AD Pituitary tumors occur in ~40% of affected individuals, most often prolactinomas Gastro-entero-pancreatic tract tumors Parathyroid adenoma w/hypercalcemia Other manifestations CDKN1A CDKN1B CDKN2B CDKN2C MEN1-like syndrome 1 AD Pituitary tumors occur in ~40% of affected individuals, most often somatotropinomas Rare disorder Clinical findings similar to those of MEN1 PRKAR1A PRKACB 2 Carney complex AD ~80% of affected individuals have somatotroph cell hyperplasia or small pituitary adenoma Skin pigmentary abnormalities Myxomas of the organs Schwannomas Primary pigmented nodular adrenocortical disease Large-cell calcifying Sertoli cell tumors Thyroid nodules Acromegaly GNAS McCune-Albright syndrome n/a (somatic) ~30% of affected individuals have pituitary disease Pituitary adenomas w/↑ secretion of growth hormone Hyperplasia of somatomammotroph cells w/prolactinemia Polyostotic fibrous dysplasia Café au lait patches Multiple endocrine disorders (e.g., multinodular goiters, multinodular adrenal hyperplasia, & precocious puberty) MAX SDHA SDHB SDHC SDHD RET Hereditary paraganglioma-pheochromocytoma syndromes AD Low penetrance of pituitary disease Pituitary carcinoma described, vacuolated histology picture Paragangliomas Pheochromocytoma GIST Kidney tumors DICER1 DICER1 syndrome AD Low penetrance of pituitary disease ACTH-secreting pituitary blastoma Manifests before age 2 yrs MSH2 MSH6 MLH1 ?
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Myocarditis
Wikipedia
Infections [ edit ] Viral : adenovirus , parvovirus B19 , coxsackie virus , rubella virus , polio virus , Epstein-Barr virus , hepatitis C , severe acute respiratory syndrome coronavirus 2 [13] Protozoan : Trypanosoma cruzi (causing Chagas disease ) and Toxoplasma gondii Bacterial : Brucella , Corynebacterium diphtheriae , gonococcus , Haemophilus influenzae , Actinomyces , Tropheryma whipplei , Vibrio cholerae , Borrelia burgdorferi , leptospirosis , Rickettsia , Mycoplasma pneumoniae Fungal : Aspergillus Parasitic : ascaris , Echinococcus granulosus , Paragonimus westermani , schistosoma , Taenia solium , Trichinella spiralis , visceral larva migrans , Wuchereria bancrofti Bacterial myocarditis is rare in patients without immunodeficiency . Toxins [ edit ] Drugs , including alcohol , anthracyclines and some other forms of chemotherapy , and antipsychotics , e.g., clozapine , also some designer drugs such as mephedrone [14] Immunologic [ edit ] Allergic ( acetazolamide , amitriptyline ) Rejection after a heart transplant Autoantigens ( scleroderma , systemic lupus erythematosus , sarcoidosis , systemic vasculitis such as eosinophilic granulomatosis with polyangiitis , and granulomatosis with polyangiitis , Kawasaki disease , idiopathic hypereosinophilic syndrome ) [15] Toxins ( arsenic , toxic shock syndrome toxin , carbon monoxide , or snake venom ) Heavy metals ( copper or iron ) Physical agents [ edit ] Electric shock , hyperpyrexia , and radiation Mechanism [ edit ] Most forms of myocarditis involve the infiltration of heart tissues by one or two types of pro-inflammatory blood cells, lymphocytes and macrophages plus two respective descendants of these cells, NK cells and macrophages . ... External links [ edit ] Myocarditis on emedicine Classification D ICD - 10 : I09.0 , I51.4 ICD - 9-CM : 391.2 , 422 , 429.0 MeSH : D009205 DiseasesDB : 8716 External resources MedlinePlus : 000149 eMedicine : article/156330 article/890740 article/1612533 Patient UK : Myocarditis 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 fever Authority control NDL : 01221996IL6, TNF, CRP, SLC22A3, SLC22A5, SLC22A4, IL10, IL17A, CTLA4, CXCL10, ACE, SPP1, CXCR3, LCN2, IL22, CX3CL1, TNFRSF11B, ICOS, MIF, ADRB2, CYP11B1, STAT6, TNFSF11, TNFRSF11A, PPA2, IL1B, SLC2A10, GPX4, ABCD1, IFNG, SMUG1, LGALS3, CD274, TLR4, IL4, IL1A, NLRP3, STAT3, NOS2, TNNI3, IFNA1, IFNB1, CXADR, TLR3, IFNA13, ATN1, LGALS9, COX2, ITGAL, ITGB2, IL13, IL1RN, HMGB1, NR1I2, MMP9, MMP2, IL37, GJA1, TLR7, NFE2L2, RAG1, IL33, MTCO2P12, MIR98, TSPO, CCL2, MIR155, CD68, CHRNA4, REN, ISYNA1, PTGS2, MAPK1, ITGAM, ESR1, PDCD1, TXN, GABPA, SST, ISG15, AIM2, GRAP2, STAT4, WNT5A, F2RL3, ADAM17, APLN, TACR3, VDR, MAP3K7, UTRN, TLR5, TEAD1, TFPI2, AIMP2, KEAP1, TFPI, TTN, TGFB3, THBS2, THM, ADAM9, TRAF6, THY1, DENR, TNFAIP3, WNT1, ADRB1, NR1I3, TMBIM1, SLC52A2, HDAC11, BCL2L12, PRRT2, EMB, TRIM69, PWAR1, TICAM1, DDX53, IL27, PPP1R42, PWAR4, MALAT1, MIR10A, MIR148A, MIR203A, MIR21, MIR214, MIR215, MIR30A, DEFB103A, MIR146B, MIR181D, CXADRP1, CCR2, MIR208B, KLRC4-KLRK1, NOD2, MYDGF, DNM1L, DEFB103B, EBI3, TRIM13, KLF2, CXCL13, AHSA1, FGL2, MORF4, RIPK3, RASSF1, KLRK1, DAPK2, RNF19A, POLDIP2, SLC17A5, PDCD4, RABGEF1, NOX4, IL21R, FOXP3, SCARA3, GDE1, GPRC5B, IL17D, TLR9, TREM1, TERF2IP, SLC52A1, TRIM21, PRKCA, SPG7, CYP11B2, DSC2, HBEGF, EDN1, EIF4EBP1, MARK2, EPHB2, EPO, ERBB4, ESR2, F2R, F2RL1, F3, F5, FOXO3, FUT4, CBLIF, GJA5, GCLC, GLS, GNAO1, GPX1, GRN, GSR, GZMB, NRG1, DMD, CX3CR1, HLA-DQB1, CTSB, AGT, AKT1, AKT2, APC, APEX1, FAS, FASLG, AQP4, ARR3, ARRB2, ARSB, CXCR5, CA4, CASP3, CASR, CD40, CLU, CREBBP, CRK, CRMP1, MAPK14, CSF1, CSF2, CSF3, CTH, HLA-DQA1, HLA-DQB2, SPARC, CXCL9, MST1, MYBPC3, MYD88, MYH6, NCAM1, NUP98, PAWR, PI3, PPARA, PRKAR1A, PRKCB, MAPK3, MAPK8, MAP2K7, PTPRC, RAP1A, RASGRF1, S100A8, S100A9, SLC2A1, SMN1, SMN2, SNRNP70, SOD1, SOS1, MSN, MEFV, HMGA1, MDK, HMOX1, HSPA4, HSPB1, IDS, IFNA2, IFNGR1, IFNGR2, IGHMBP2, IL3, CXCL8, TNFRSF9, ILK, INS, IRF1, IRF3, IRF5, ITGAX, ITK, JAK2, KIT, KLRB1, LAG3, MAS1, MB, MBP, ORI6
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Scleroderma
Wikipedia
Digestive: gastroesophageal reflux disease , bloating, indigestion , loss of appetite, diarrhoea alternating with constipation , sicca syndrome and its complications, loosening of teeth and hoarseness (due to acid reflux). ... Musculoskeletal: joint , muscle aches , loss of joint range of motion, carpal tunnel syndrome and muscle weakness . Genitourinary: erectile dysfunction , dyspareunia , kidney problems, or kidney failure . ... Eosinophilia-myalgia syndrome , a form of eosinophilia that is caused by L-tryptophan supplements. ... Azathioprine Purine analogue that inhibits lymphocyte proliferation via conversion to mercaptopurine PO, IV D (Au) Myelosuppression and rarely malignancy, hepatitis, infection, hepatic sinusoidal obstruction syndrome and hypersensitivity reactions. ... PO C (Au) Neutropenia , hypokalaemia , interstitial lung disease, pericardial effusion , pleural effusion , less commonly pulmonary haemorrhage, nephrotic syndrome and rarely hepatotoxicity and lymphoedema .LMNA, TNF, CSF3, XYLT2, LBR, PAH, SLC29A3, POLD1, CCN2, CLCNKB, UROD, SMAD3, HFE, SLC12A3, UROS, LEMD3, TGFB1, WRN, COL1A2, HLA-DRB1, SS18L1, CCL2, MMP1, TGFBR1, FBN1, SPARC, IL6, HGF, RNPC3, FLI1, EDN1, FN1, MAPK1, IFNG, SMAD7, COL1A1, IL13, PDGFRB, CYCS, IL1B, HLA-DQB1, RBM45, TLR4, ICAM1, CAV1, POLR3A, TNFSF14, KL, POLDIP2, MYBL2, DKK1, CCN1, GZMA, IL10, ITGA5, BTG3, GRAP2, TNC, HLA-G, HLA-DQA1, HLA-DPB1, RNF19A, VEGFA, CSF1, FGF2, STAT4, SRY, TGFBI, TGFBR2, MIR21, MIR196A1, THBS1, HDAC5, TIMP1, CD34, CENPA, SMAD2, CRK, MAPK14, IL2, DBA2, TP53, AIMP2, MMP3, PLAU, ESR1, FBL, EPHB2, ENG, POSTN, EGR1, EDNRB, AHSA1, UBE4A, PPIG, GDF15, PLAA, TSIX, FGF23, KLF4, YY1, TG, THY1, TIMP3, TNFAIP3, TNFRSF1A, TPO, CRISP2, TTN, TXN, VDR, CEBPZ, COPB2, LTBP4, RTCA, PDE5A, TNFSF10, TNFRSF14, TNFRSF10B, ASAP2, EIF2B4, EIF2B2, EIF2S2, EBI3, ACR, ZMPSTE24, PRSS55, TRPV4, FBRS, GORASP1, SMURF2, WNK1, COL18A1, TSSK1B, SPZ1, TSLP, PRRT2, CARD16, SLCO6A1, IL23R, DNAAF3, UBE4B, GSTK1, MIR130B, MIR150, MIR155, MIR17, MIR206, MIR29A, MIR17HG, MIR135B, MIR202, CCR2, C20orf181, KIR2DS2, SPG16, MRTFA, SMURF1, IFT122, TNIP1, EMG1, TNFSF13B, UTP14A, MRPS30, PAPOLA, RNPS1, SPIN1, PDAP1, TUSC2, NID2, TAC1, SMG1, SIRT1, RBFOX2, POLR1A, ERAL1, DNAI1, DLL1, TBX21, ASAP1, CSAD, SCLY, KRT20, BANK1, MTPAP, CARMIL1, TAL1, EXOSC10, SYT1, STAT6, EGR3, EIF2B1, EPHA1, ETS1, EZH2, PTK2B, FCGR2B, FKBP1A, FOXC1, FOXO3, FLII, FOLR2, FPR2, ACKR1, GEM, GLB1, GTF2I, GYPA, HDC, HIF1A, HLA-A, HLA-B, HLA-DRB5, IFI16, IFNA1, IFNA13, IFNAR1, IL1A, IL3, EGR2, EGFR, EGF, CD247, ADA, AKT1, ALDH3A2, ALOX5, ALOX5AP, ABCC6, BCL2, BCL6, BLM, BMP6, BMPR2, CAT, SERPINH1, MS4A1, DNMT1, CD44, CD69, CENPC, LTB4R, COL3A1, COMP, CSF2, NKX2-5, CTLA4, CYP2B6, DECR1, DNAH5, DNASE1L3, IL4, IL13RA1, IL16, PRKCD, PGM1, SERPINE2, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PLAUR, PLOD2, ACP3, POMC, PPARG, PRKCA, PRKCB, MAP2K7, PDGFA, PRS, PRTN3, PSMB6, PTGS2, RELA, S100A9, CCL5, SLC25A1, SP1, SPG7, SRF, SRPK2, STAT3, ENPP2, PCM1, IL17A, MET, ITGAV, ITGB3, KIR2DL2, KIR3DL1, KNG1, KRAS, KRT7, LGALS3, LOX, LOXL2, SMAD4, MBD1, MECP2, KITLG, PCBD1, MIF, MPO, MT3, COX2, MYB, MYC, NOS3, DDR2, OXCT1, P2RX7, SERPINE1, PAK3, REG3A, MTCO2P12
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Clubfoot
Wikipedia
These can cause congenital contractures, including clubfoot, in distal arthrogryposis (DA) syndromes. [9] Clubfoot can also be present in people with genetic conditions such as Loeys–Dietz syndrome and Ehlers-Danlos syndrome . [10] Genetic mapping and the development of models of the disease have improved understanding of developmental processes. ... PMID 21834041 . ^ Byers, Peter H. (2019). Vascular Ehlers-Danlos Syndrome . University of Washington, Seattle. ^ Dobbs, MB; Gurnett, CA (January 2012). ... External links [ edit ] Classification D ICD - 10 : M21.5 , Q66.8 ICD - 9-CM : 736.71 , 754.5 - 754.7 OMIM : 119800 MeSH : D003025 DiseasesDB : 29395 External resources MedlinePlus : 001228 eMedicine : radio/177 orthoped/598 Patient UK : Clubfoot v t e Acquired musculoskeletal deformities Upper limb shoulder Winged scapula Adhesive capsulitis Rotator cuff tear Subacromial bursitis elbow Cubitus valgus Cubitus varus hand deformity Wrist drop Boutonniere deformity Swan neck deformity Mallet finger Lower limb hip Protrusio acetabuli Coxa valga Coxa vara leg Unequal leg length patella Luxating patella Chondromalacia patellae Patella baja Patella alta foot deformity Bunion/hallux valgus Hallux varus Hallux rigidus Hammer toe Foot drop Flat feet Club foot knee Genu recurvatum Head Cauliflower ear General terms Valgus deformity / Varus deformity Joint stiffness Ligamentous laxity v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatumPITX1, CHST14, EIF4A3, MTHFR, GLI3, LMX1B, RET, GRIP1, TCIRG1, FRAS1, FKBP8, TBX4, SOX9, TPM2, WNT7A, RBM10, FLNB, TNNT3, GDF5, MYH8, CHST3, SLC26A2, COL2A1, TGDS, SUZ12, KAT6B, ATP6V0A2, AP4E1, ORC6, MED13L, MAP3K20, RAB3GAP2, FBXO7, RAB23, COG4, SYNE1, FGFRL1, SETBP1, B3GAT3, B9D1, DSE, DONSON, OTUD6B, PTRH2, COLQ, AP4S1, TRIM2, SATB2, MTMR2, KYNU, PLOD3, USP8, CTDP1, AP4M1, HACD1, RAB11B, CRLF1, COG1, RECQL4, CRIPT, SEC24C, RUSC2, MAFB, ALG3, SF3B4, SPEG, TRAIP, POMT1, FARS2, EBP, CPLX1, GTPBP2, PLXND1, EXOC6B, BICD2, GDAP1, DARS2, SAMD9, ATAD1, ZFYVE27, C12orf57, NEK9, C12orf65, SCARF2, WDR73, MFSD2A, TCTN2, COL25A1, MEGF10, COG8, KIAA1109, SBF2, VANGL1, FGD4, CANT1, B3GALT6, EVC2, AMER1, RFLNA, GSC, CCBE1, LGI4, BMPER, JMJD1C, STAC3, NALCN, NEK8, SH3PXD2B, KY, ARSI, FUZ, FAT4, NDE1, INPP5E, SNX14, ERGIC1, ADGRG6, SELENON, CCDC47, JPH1, ZC4H2, GNPTAB, MCTP2, TBC1D23, LIMS2, PEX26, CEP55, DCHS1, SCYL1, PLEKHG5, TBC1D24, SHROOM4, ARHGAP31, CC2D2A, ZSWIM6, PRUNE1, TRPV4, SLC25A19, FKBP10, PIEZO2, SMOC1, IFIH1, NSD1, ALG8, ALG12, EED, MYMK, TP63, FBN1, FOXG1, FLNA, GCH1, GPC3, GLE1, GP1BB, GPX4, GUSB, H1-4, HADHA, HADHB, HBA1, HBA2, HRAS, HSD17B4, HSPB1, CDK13, IGHMBP2, IHH, IRF6, ITGA7, L1CAM, LAMB2, LETM1, LIFR, GPC4, EZH2, MUSK, EVC, BIN1, ANK1, ARVCF, ATP6V1A, ATP6V1E1, ATRX, BMPR1B, DST, CHN1, CHRM3, CHRNG, COL3A1, COL5A1, COL6A1, COL6A2, COL6A3, COMT, CTBP1, CTH, DES, DHCR7, DPYS, MEGF8, EIF2S3, ERCC5, MSX1, HSPG2, MYBPC1, RYR1, SMS, SNCA, TBX1, TBX15, TGFBR1, TGFBR2, TH, TNNI2, TPM3, TRPS1, TTN, HIRA, UFD1, SLC35A2, WHCR, NSD2, NELFA, ZNF148, BRPF1, GAN, KDM5C, ARID1A, ACTA1, OFD1, ITGA8, SLC6A9, MAP3K7, RREB1, ALDH18A1, PEX2, NECTIN1, PLOD2, PEX5, PLOD1, PI4KA, PEX1, CHMP1A, ORC1, NOTCH2, MYL2, MYH3, REV3L, HOXA9, COL9A1, HOXC@, NAT2, TGFBI, HOXC11, NACA2, SMN1, SMN2, GH1, MSTN, RBBP8, CAND2, BCL2, MYH14, CXCR4, CILP2, CASP10, MYH2, ZNF664, HTC2, FASN, COL1A1, PRL, TAZ, HOXA@, NCOR2, HOXD13, BRIP1, HOXD12, CXCL12, HOXD@, AKR1C1, TPM1, HOXC12, HOXD10
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Agoraphobia
Wikipedia
Agoraphobia, as described in this manner, is actually a symptom professionals check when making a diagnosis of panic disorder . Other syndromes like obsessive compulsive disorder or post-traumatic stress disorder can also cause agoraphobia. Essentially, any irrational fear that keeps one from going outside can cause the syndrome. [10] Agoraphobics may suffer from temporary separation anxiety disorder when certain other individuals of the household depart from the residence temporarily, such as a parent or spouse, or when the agoraphobic is left home alone. ... External links [ edit ] Classification D ICD - 10 : F40.0 ICD - 9-CM : 300.22 Without panic disorder, 300.21 With panic disorder MeSH : D000379 External resources MedlinePlus : 000923 Patient UK : Agoraphobia Agoraphobia at Curlie v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation Stereotypy
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Multiple Endocrine Neoplasia Type 2
Gene_reviews
Nomenclature MEN 2A is also referred to as Sipple syndrome. Mucosal neuroma syndrome is a synonym for MEN 2B. MEN 2B was initially called Wagenmann-Froboese syndrome [Morrison & Nevin 1996]. Prevalence The prevalence of MEN 2 has been estimated at 1:35,000 [DeLellis et al 2004]. ... Pacak et al [2005] compared biochemical profiles for inherited and sporadic pheochromocytoma and found that MEN 2 can be ruled out in pheochromocytomas that exclusively produce normetanephrine. von Hippel-Lindau (VHL) syndrome . Any individual presenting with a pheochromocytoma should be evaluated for VHL syndrome [Erlic et al 2009]. VHL syndrome is characterized by pheochromocytoma, renal cell carcinoma, cerebellar and spinal hemangioblastoma, and retinal angioma. ... Hereditary paraganglioma-pheochromocytoma syndrome . Pathogenic variants in the succinate dehydrogenase genes SDHA , SDHB , SDHC , SDHD , and SDHAF2 cause hereditary paraganglioma-pheochromocytoma syndrome.RET, CALCA, SDHD, MEN1, VHL, NTRK1, MT1A, PNMT, GDNF, PTEN, NF1, SDHB, TH, S100A12, SDHC, SLC16A1, TP53, TIMP3, MAPK1, ZNF22, SPHK1, HNRNPA3P1, RASSF1, SIN3A, MCAT, GFRA4, MCPH1, HNRNPA3, MIR885, MIR1225, PRL, ABO, POMC, AR, BRCA1, BRCA2, CDKN2A, CEACAM5, CFTR, CGA, CHGA, DBH, EPAS1, EPHB2, EPO, ESR1, F10, FH, GCG, GPT, NR3C1, HLA-H, MAX, MAZ, NPY, H3P10
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Intravascular Lymphomas
Wikipedia
Intravascular large B-cell lymphoma, hemophagocytic syndrome-associated variant [ edit ] Presentation [ edit ] The hemophagocytic syndrome-associated variant of IVBCL is a very rare variant of IVBCL. ... Unlike the classical and cutaneous variants, the hemophagocytic syndrome-associated variant presents with the hemophagocytic syndrome . This syndrome is characterized by bone marrow involvement, reduced numbers of circulating blood platelets [5] as well as the reduced levels of other circulating blood cells, [22] and enlarged liver and spleen. Less often, it is also associated with overt hemophagocytosis (i.e. the engulfment by non-malignant histiocytes of red blood cells , white blood cells , platelets, and their precursor cells that is most commonly found in the bone marrow and other tissues. [5] The syndrome often reflects excessive secretion of inflammatory cytokines and severe systemic inflammation similar to that seen in the cytokine storm syndrome. [2] In general, individuals present with a rapidly progressive disease (median time from onset to diagnosis~4 weeks, range 2–12 weeks). [12] Patients are often extremely ill [12] and suffer from multiple organ failures. [2] Diagnosis [ edit ] The diagnosis of the intravascular large B-cell lymphoma, hemophagocytic syndrome-associated variant depends on the individual presenting with clinical and laboratory findings compatible with the hemphagocytic syndrome (see previous section) and on the histology of biopsied tissues of the bone marrow, spleen, liver, brain, or other organ that clinical and/or laboratory findings suggest are involved in the disease. ... PMID 28461685 . ^ a b Komeno Y, Akiyama M, Okochi Y, Tokuda H, Abe K, Iihara K, Ryu T (2019). "Hemophagocytic Syndrome-Associated Variant of Methotrexate-Associated Intravascular Large B-Cell Lymphoma in a Rheumatoid Arthritis Patient" .