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Pancreatic Neuroendocrine Tumor GARD

However in some cases, a pancreatic NET occurs outside of the pancreas. A NET arises from cells that produce hormones, so the tumor can also produce hormones. ... Pancreatic NETs are called either functional or nonfunctional. A functional pancreatic NET causes specific symptoms because it makes extra hormones, such as gastrin, insulin, or glucagon. ... Pancreatic NETs can be hard to diagnosis, often not identified until 5 to 10 years after they begin to grow. Most pancreatic NETs are not inherited and occur sporadically in people with no family history of NETs.

MEN1, PCSK1, ATM, BRCA2, C11orf65, IGF2, SST, TP53, CDKN2A, SLC6A2, MTOR, EPHB1, POMC, GH1, GCGR, DAXX, ELK3, KRT19, SSTR2, CHGA, SSTR5, UCHL1, FZD4, GCM2, DLGAP1, DCLK1, SSTR4, INA, STK11, EIF2AK3, TFE3, THBD, CXCR4, PAX8, TSC1, TTR, TYMS, VEGFA, ABO, CNPY2, MRGPRX4, GPR166P, VN1R17P, MIR196A1, GADL1, MRGPRX1, GPRC6A, OXER1, GPR119, GPR151, MRGPRX3, SEMA3A, AZIN2, ACCS, STK33, LGR6, ACSS2, MEG3, NEUROG3, LPAR3, LILRB1, PLA2G15, RET, SLC2A3, INSM1, GRN, FFAR1, GHRH, GAST, FGFR4, F3, EGFR, DHCR24, CSF1, CRH, CHGB, CD44, CCK, CALCA, VPS51, ATRX, ASS1, ASCL1, ANGPT2, HSF1, PDX1, SLC2A2, KIT, SLC2A1, SEA, SDHB, SDHA, AKT1, PYGM, PTH, PTEN, PPY, PTPA, PGR, PCYT1A, PCNA, NFKB1, NEUROD1, MUC1, SMAD4, STMN1, KRAS, H3P10
- Neuroendocrine Tumor Of Pancreas Orphanet
  
  Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms). Epidemiology Prevalence in the U.S. is estimated at 1/4,000-1/3,300 and 1/37,000 in Japan, but this is likely an underestimate due to a low detection rate. Clinical description PNETs, when functional, usually present in the 5th decade of life as various hypersecretion syndromes. These include insulinoma presenting with hyperinsulinemic hypoglycemia; glucagonoma with necrolytic migratory erythema, diabetes mellitus, and thomboembolisms; VIPoma with watery diarrhea, hypokalemia and or hypo/achlorhydia; SSoma with diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria; and ZES with severe peptic ulcer disease.
Neuroendocrine Tumor GARD

A neuroendocrine tumor (NET) is a rare type of tumor that arises from specialized body cells called neuroendocrine cells . ... Pancreatic neuroendocrine tumors (also called islet cell tumors) - NETs that typically arise in the pancreas, although they can occur outside the pancreas. A p heochromocytoma is another, rarer type of NET that usually develops in the adrenal gland , but can also arise in other parts of the body. ... Functional NETs produce a specific set of symptoms due to the production of excess hormones, while non-functional NETs generally do not cause specific symptoms. In many cases, a person has no symptoms until the tumor spreads to the liver and/or impairs the function of an organ or system. This can make NETs very hard to diagnose. The majority of NETs are not inherited and occur sporadically in people with no family history of NETs.

PRKAR1A, MEN1, CALCA, RUNX1T1, CDKN1B, CGA, CHGA, FN1, GAST, IGFBP3, PTH, RET, ADAM17, QRSL1, CDC73
- Endocrine Gland Neoplasm Wikipedia
  
  Endocrine gland neoplasm Specialty Oncology , endocrinology An endocrine gland neoplasm is a neoplasm affecting one or more glands of the endocrine system . Examples include: Adrenal tumor Pituitary adenoma The most common form is thyroid cancer . [1] Condition such as pancreatic cancer or ovarian cancer can be considered endocrine tumors, or classified under other systems. Pinealoma is often grouped with brain tumors because of its location. [ citation needed ] See also [ edit ] Multiple endocrine neoplasia References [ edit ] ^ "Thyroid cancer" . Archived from the original on 2007-12-20 . Retrieved 2007-12-22 . External links [ edit ] Classification D ICD - 10 : C73 - C75 D34 - D35 MeSH : D00470 v t e Overview of tumors , cancer and oncology Conditions Benign tumors Hyperplasia Cyst Pseudocyst Hamartoma Malignant progression Dysplasia Carcinoma in situ Cancer Metastasis Primary tumor Sentinel lymph node Topography Head and neck ( oral , nasopharyngeal ) Digestive system Respiratory system Bone Skin Blood Urogenital Nervous system Endocrine system Histology Carcinoma Sarcoma Blastoma Papilloma Adenoma Other Precancerous condition Paraneoplastic syndrome Staging / grading TNM Ann Arbor Prostate cancer staging Gleason grading system Dukes classification Carcinogenesis Cancer cell Carcinogen Tumor suppressor genes / oncogenes Clonally transmissible cancer Oncovirus Carcinogenic bacteria Misc. Research Index of oncology articles History Cancer pain Cancer and nausea v t e Tumours of endocrine glands Pancreas Pancreatic cancer Pancreatic neuroendocrine tumor α : Glucagonoma β : Insulinoma δ : Somatostatinoma G : Gastrinoma VIPoma Pituitary Pituitary adenoma : Prolactinoma ACTH-secreting pituitary adenoma GH-secreting pituitary adenoma Craniopharyngioma Pituicytoma Thyroid Thyroid cancer (malignant): epithelial-cell carcinoma Papillary Follicular / Hurthle cell Parafollicular cell Medullary Anaplastic Lymphoma Squamous-cell carcinoma Benign Thyroid adenoma Struma ovarii Adrenal tumor Cortex Adrenocortical adenoma Adrenocortical carcinoma Medulla Pheochromocytoma Neuroblastoma Paraganglioma Parathyroid Parathyroid neoplasm Adenoma Carcinoma Pineal gland Pinealoma Pinealoblastoma Pineocytoma MEN 1 2A 2B This article about a neoplasm is a stub .
Infantile Myofibromatosis Orphanet

Clinical description Infantile myofibromatosis (IM) presents at birth or develops shortly thereafter, with 90% of cases occurring before the age of 2 years. IM is characterized by solitary or multiple nodules that are firm, flesh-colored to purple (''myofibroma''), and usually painless (except in case of compression of adjacent nerves). ... Etiology Most of these tumors are sporadic and isolated. Rare familial cases of IM have been described and 2 genes have been identified as disease causing: PDGFRB and NOTCH3 which encode PDGFRB and NOTCH3 respectively. ... Histopathology remains the gold standard for the diagnosis of IM. Biopsy reveals interlacing fascicles of spindle cells (myofibroblasts) in the periphery. ... Antenatal diagnosis Prenatal diagnosis is achieved by ultrasound examination and confirm by fetal MRI. Genetic counseling IM is mostly isolated and sporadic. In cases of familial and multifocal lesions, IM can be inherited as an autosomal recessive or dominant trait (incomplete penetrance and variable expressivity).

PDGFRB, NOTCH3, ACTB, SMUG1, S100A1, NDRG4, LRIT1, VIM, SMS, S100B, PECAM1, ACVR1, PAM, DES, COX8A, CD34, ACAN, SHCBP1
- Infantile Myofibromatosis Wikipedia
  
  Infantile myofibromatosis Other names Congenital generalized fibromatosis, [1] and Congenital multicentric fibromatosis [1] Specialty Oncology Infantile myofibromatosis is the most common fibrous tumor of infancy, in which eighty percent of patients have solitary lesions with half of these occurring on the head and neck, and 60% are present at or soon after birth. [2] : 606 Less commonly, infantile myofibromatosis presents as multiple lesions of skin, muscle, and bone with about 1/3 of these cases also having lesions in their visceral organs. All of these cases have an excellent prognosis with their tumors sometimes regressing spontaneously except for those cases in which there is visceral involvement where the prognosis is poor. [3] Infantile myofibromatosis and the classic form of mesoblastic nephroma have been suggested to be the same disease because of their very similar histology. However, studies on the distribution of cell-type markers (i.e. cyclin D1 and Beta-catenin ) indicate that the two neoplasms likely have different cellular origins. [4] [5] See also [ edit ] Skin lesion List of cutaneous conditions mesoblastic nephroma References [ edit ] ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN 978-1-4160-2999-1 . ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders.
- Myofibromatosis, Infantile, 1 OMIM
  
  A number sign (#) is used with this entry because infantile myofibromatosis-1 (IMF1) is caused by heterozygous mutation in the PDGFRB gene (173410) on chromosome 5q32. Description Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life (summary by Arcangeli and Calista, 2006). Genetic Heterogeneity of Infantile Myofibromatosis See also IMF2 (615293), caused by mutation in the NOTCH3 gene (600276).
- Myofibromatosis, Infantile, 2 OMIM
  
  Clinical Features Martignetti et al. (2013) reported a 2-generation family (IM-9) in which 9 individuals had infantile myofibromatosis.
Neuroendocrine Tumor Wikipedia

H&E stain Specialty Endocrine oncology Neuroendocrine tumors ( NETs ) are neoplasms that arise from cells of the endocrine ( hormonal ) and nervous systems . ... G1 and G2 neuroendocrine neoplasms are called neuroendocrine tumors (NETs) – formerly called carcinoid tumours. ... Unsourced material may be challenged and removed. ( November 2015 ) ( Learn how and when to remove this template message ) NETs from a particular anatomical origin often show similar behavior as a group, such as the foregut (which conceptually includes pancreas, and even thymus, airway and lung NETs), midgut and hindgut ; individual tumors within these sites can differ from these group benchmarks: Foregut NETs are argentaffin negative. ... Bone metastasis is uncommon. Hindgut NETs are argentaffin negative and rarely secrete 5-HT, 5-HTP, or any other vasoactive peptides. ... Not all cells are immediately killed; cell death can go on for up to two years. [ citation needed ] PRRT was initially used for low grade NETs. It is also very useful in more aggressive NETs such as Grade 2 and 3 NETs [83] [84] provided they demonstrate high uptake on SSTR imaging to suggest benefit.

MEN1, CDKN1B, SSTR2, DAXX, ATRX, BRAF, TYMS, PTHLH, SSTR3, SSTR1, BAP1, MTOR, SST, GAST, SLC6A2, INSM1, CTNNB1, RET, PIK3CA, DNMT3A, POMC, EPHB1, PIK3CG, PIK3CD, CHGA, ELK3, CHEK2, PIK3CB, GRN, CD274, SMUG1, AKT1, GNA12, TP53, SYP, VEGFA, CDKN2A, ASCL1, BCL2, ENO2, NCAM1, GCG, MYCN, EGFR, MGMT, KIT, RASSF1, VHL, SCLC1, SSTR5, FOLH1, NKX2-1, KRAS, CALCA, CCND1, TAC1, PTPRF, VIP, NTS, PAX5, RHBDF2, GRP, IGF1, SDHD, GOT1, MAP2K7, CCK, ERBB2, DLL3, PPY, CXCL12, TP63, SMAD4, MUC1, INS, GCGR, CKAP4, NEUROD1, ISL1, MYC, NGF, SATB2, GLP1R, HSP90AA1, H3P10, HRAS, CHGB, CALR, NTRK1, TEK, DLK1, CDK4, CDX2, TGFA, UCHL1, RPE65, PGR, PDGFRA, CARTPT, CRH, UVRAG, SLC5A5, CXCR4, IGF1R, OTP, IL6, PHLDA3, TTF1, PAX8, TACR1, STK11, TRIM21, PLA2G15, SCG2, SQLE, SLC18A2, TERT, HDAC9, SLC2A1, PROM1, BCL2L11, NTSR1, PAX6, NAMPT, NOCT, INA, PLCB3, CD200, MKI67, PDX1, MAPK1, NES, HPSE, PTEN, STMN1, ABO, RIPK1, RORC, RAF1, IL1B, TRPV1, GATA3, ANGPT2, FOXM1, PTK2B, SDHAF2, ACCS, BDNF, EPAS1, EGF, ACSS2, MIB1, DNMT1, CCN2, TRPM8, CLDN4, CPE, CD34, CD44, FLNA, CEACAM5, B3GAT1, GH1, GIP, GHSR, GIPR, ADCY2, ALB, H3P28, TPPP2, H4C5, GGH, MIR1290, TMEM209, ELOA3, H4C13, H4C14, GPR151, SRPX, LGR5, TNFSF11, PSMG1, DCBLD2, H4-16, NRP1, MRGPRX4, SOCS1, H4C2, MIR3137, MRGPRX3, TNFRSF25, H3P12, CYYR1, AZIN2, DNER, AK6, MLIP, LMLN, NRP2, GPR68, MIR1246, H4C8, MAFK, MIR150, MIR155, MBOAT4, H4C9, MIR21, POTEKP, VN1R17P, SNORD95, GPR166P, ARID1A, EID3, SLC7A5, MIR375, H4C15, FZD4, MIRLET7C, OXER1, H4C12, HMGA2, H4C3, ARX, ELOA3B, GPRC6A, H4C11, H4C6, C17orf97, POTEM, MRGPRX1, ARMH1, H4C1, GADL1, ACTBL2, H4C4, BRI3, SQSTM1, ISYNA1, GHRL, ACOT7, KLF12, KRT20, SLC27A4, TET2, BCOR, EBNA1BP2, RALBP1, PGRMC1, LAMTOR1, FBXW7, MEG3, MAML3, TMEM127, NTNG1, ATRAID, KHDRBS1, DCTN4, SNORD61, NUP62, SNORD48, NTSR2, LPAR3, MAPK8IP2, SRRM2, BRD4, TRAM1, SPINK4, XIST, PPWD1, RBMS3, SETD1B, ZHX2, TNFSF13B, USE1, MAK16, UBE2Z, ONECUT2, FHL5, GCM2, DCLK1, ZBED1, ARHGEF2, PALB2, ALG9, SNED1, TET1, PDCD1LG2, TMPRSS13, MTA1, RPAIN, H1-10, EEF1E1, LGR6, PRMT5, NEUROD4, YAP1, SCML2, LANCL1, PAK4, RABEPK, ZNF197, CTNNBL1, PNO1, INSL5, EPB41L5, HDAC5, AKT3, CD302, GBA3, DCAF1, ATAT1, SERPINA3, VCL, CGA, ESR1, ERBB4, EPHB2, E2F1, DUSP2, DSG3, DPT, DPP4, DMBT1, DDC, DAD1, VCAN, CREB1, CRABP1, KLF6, CLU, FOXN3, CEACAM7, CEACAM3, ESR2, ETFA, EZH2, GHRH, HSPA4, AGFG1, HMOX1, HMGA1, GTF2H1, GSN, GNAS, GNA15, GFRA1, F3, GDNF, FSHR, FLT4, FLII, FLI1, FOXO1, FHIT, FGFR4, CGB3, CFL1, UQCRFS1, CDKN2C, FAS, APRT, APLP1, XIAP, APC, SLC25A6, SLC25A4, ANGPT1, ALK, AKT2, AFP, PARP1, ADCYAP1R1, ADCYAP1, ACVRL1, ACTN4, ACTG2, ACTG1, ACR, AQP4, ARF1, ATM, CASP3, CDK6, CD40LG, CD36, CD33, CCNE1, CCKBR, SERPINA6, CAV1, CA9, ATOH1, VPS51, C5, BRS3, BRCA2, DST, BAX, AVP, ATP4A, HTC2, HTR2A, TNC, IAPP, SDC1, SCT, SORT1, RNASE3, RARB, PTPRZ1, PTPRM, PTBP1, PSMD7, PSG2, PRKAR1A, PPP4C, POU4F1, PNN, PKD2, PITX2, PCYT1A, SERPINA5, PAX4, SDCBP, SDHB, SDHC, ST2, UBE2I, TPM3, TPH1, TNF, TM7SF2, TERC, TAT, STAT3, SSTR4, SEMA3F, SSR2, SOX11, SOX4, SOX2, SLPI, SLC3A2, SLC1A5, SFRP1, PAK3, PAK1, TNFRSF11B, KIF11, MDK, MAOA, LCN2, RPSA, L1CAM, KRT19, KRT7, KRT5, IL12A, MET, IL9, CXCL8, IL2, IL1A, IGFBP1, IGF2, IFNA13, IFNA1, MDM2, MFAP1, ODC1, MUTYH, NTRK2, NT5E, NRAS, NOTCH3, NPY, NOTCH1, NFKB1, NEFM, MUC4, CD99, NUDT1, COX2, MTAP, MST1R, MST1, MSMB, MMP7, MLH1, PTPRC
- Neuroendocrine Tumors Mayo Clinic
  
  Overview Neuroendocrine tumors are cancers that begin in specialized cells called neuroendocrine cells. Neuroendocrine cells have traits similar to those of nerve cells and hormone-producing cells. Neuroendocrine tumors are rare and can occur anywhere in the body. Most neuroendocrine tumors occur in the lungs, appendix, small intestine, rectum and pancreas. There are many types of neuroendocrine tumors. Some grow slowly and some grow very quickly. Some neuroendocrine tumors produce excess hormones (functional neuroendocrine tumors).
Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Orphanet

A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.

SLC6A2, SLC12A2
- Orthostatic Intolerance Wikipedia
  
  Human disease Orthostatic intolerance ( OI ) is the development of symptoms when standing upright which are relieved when reclining . [1] There are many types of orthostatic intolerance. OI can be a subcategory of dysautonomia , a disorder of the autonomic nervous system [2] occurring when an individual stands up. [3] There is a substantial overlap between syndromes of orthostatic intolerance on the one hand, and either chronic fatigue syndrome (CFS) or fibromyalgia (FM) on the other. [4] It affects more women than men (female-to-male ratio is at least 4:1), usually under the age of 35. [5] Orthostatic intolerance occurs in humans because standing upright is a fundamental stressor and requires rapid and effective circulatory and neurologic compensations to maintain blood pressure , cerebral blood flow , and consciousness . When a human stands, approximately 750 mL of thoracic blood is abruptly translocated downward. People who suffer from OI lack the basic mechanisms to compensate for this deficit. [1] Changes in heart rate , blood pressure, and cerebral blood flow that produce OI may be caused by abnormalities in the interactions between blood volume control, the cardiovascular system , the nervous system and circulation control system . [6] Contents 1 Signs and symptoms 1.1 Acute OI 1.2 Chronic OI 2 Causes 3 Diagnosis 4 Management 5 Notable case 6 See also 7 References 8 External links Signs and symptoms [ edit ] Orthostatic intolerance is divided, roughly based on patient history, in two variants: acute and chronic . Acute OI [ edit ] Patients who suffer from acute OI usually manifest the disorder by a temporary loss of consciousness and posture , with rapid recovery (simple faints , or syncope ), as well as remaining conscious during their loss of posture.
- Postural Orthostatic Tachycardia Syndrome Wikipedia
  
  Not to be confused with Pott disease . Condition in which a change from lying to standing causes an abnormally large increase in heart rate Postural orthostatic tachycardia syndrome Other names Postural tachycardia syndrome (POTS) Specialty Cardiology , Neurology Symptoms More often with standing: lightheadedness , trouble thinking , tachycardia , weakness, [1] palpitations , heat intolerance , acrocyanosis Usual onset Most common (modal) age of onset is 14 years [2] Duration > 6 months [3] Causes Antibodies against the Alpha 1 adrenergic receptor [4] [5] [6] Risk factors Family history [1] Diagnostic method An increase in heart rate by 30 beats/min with standing [1] Differential diagnosis Dehydration , heart problems, adrenal insufficiency , epilepsy , parkinson disease [7] Treatment Avoiding factors that bring on symptoms, increasing dietary salt and water, compression stockings , exercise, medications [1] Medication Beta blockers , Ivabradine , midodrine , and fludrocortisone . [1] Prognosis ~90% improve with treatment, [8] 25% of patients unable to work [9] Frequency ~ 500,000 (US) [7] Postural orthostatic tachycardia syndrome ( POTS ) is a condition in which a change from lying to standing causes an abnormally large (or higher than normal) increase in heart beat rate . [1] This occurs with symptoms that may include lightheadedness , trouble thinking, blurred vision , or weakness. [1] Other commonly associated conditions include Ehlers–Danlos syndrome , mast cell activation syndrome , irritable bowel syndrome , insomnia , chronic headaches , chronic fatigue syndrome , and fibromyalgia . [1] Contents 1 Causation 2 Signs and symptoms 2.1 Brain fog 3 Causes 3.1 Autoimmunity 3.2 Secondary 4 COVID-19 5 Diagnosis 5.1 Diagnostic criteria 5.2 Autoantibodies against G-protein coupled receptor 5.3 Orthostatic intolerance 5.4 Differential diagnoses 6 Treatment 6.1 Medication 7 Prognosis 8 Epidemiology 9 History 10 Notable cases 11 References 12 Further reading 13 External links Causation [ edit ] The causes of POTS are varied. [10] Often, it begins after a viral infection, surgery, or pregnancy. [8] Risk factors include a family history of the condition. [1] Diagnosis in adults is based on an increase in heart rate of more than 30 beats per minute within ten minutes of standing up that is accompanied by symptoms. [1] Low blood pressure with standing , however, does not occur. [1] Other conditions which can cause similar symptoms, such as dehydration , heart problems, adrenal insufficiency , epilepsy , and parkinson disease , must not be present. [7] Treatment may include avoiding factors that bring on symptoms, increasing dietary salt and water, small and frequent meals, [11] avoidance of immobilization, [11] compression stockings , exercise program, and medications. [12] [13] [1] [14] Medications used may include beta blockers , [15] pyridostigmine , [16] midodrine [17] or fludrocortisone . [1] More than 50% of people whose condition was triggered by a viral infection get better within five years. [8] About 80% have symptomatic improvement with treatment, but 25 percent of patients are still unable to work. [9] [8] Retrospective studies has shown that five years after diagnosis 19% had a full resolution of symptom. [18] It is estimated that 500,000 people are affected in the United States. [19] The average age of onset is 20 years old, and it occurs about five times more frequently in females. [1] Signs and symptoms [ edit ] In adults the primary symptom is an increase in heart rate of more than 30 beats per minute within ten minutes of standing up. [1] [20] The resulting heart rate is typically more than 120 beats per minute. [1] For people aged between 12 and 19, the minimum increase for diagnosis is 40 beats per minute. [21] This symptom is known as orthostatic (upright) tachycardia (fast heart rate). It occurs without any coinciding drop in blood pressure, as that would indicate orthostatic hypotension . [20] Certain medications to treat POTS may cause orthostatic hypotension. It is accompanied by other features of orthostatic intolerance —symptoms that develop in an upright position and are relieved by reclining. [20] These orthostatic symptoms include palpitations , light-headedness , chest discomfort, shortness of breath , [20] nausea, weakness or "heaviness" in the lower legs, blurred vision , and cognitive difficulties. [1] Symptoms may be exacerbated with prolonged sitting, prolonged standing, alcohol, heat, exercise, or eating a large meal. [ citation needed ] In up to one third of people with POTS, [1] fainting occurs in response to postural changes or exercise. [22] Migraine -like headaches are common, sometimes with symptoms worsening in an upright position ( orthostatic headache ). [22] 40-50% of patients with POTS develop acrocyanosis of extremities, a reddish-purple color in the legs and/or hands when they stand (indicative of blood pooling). [23] [22] [24] 48% of people with POTS report chronic fatigue and 32% report sleep disturbances . [25] [26] [27] [28] Others exhibit only the cardinal symptom of orthostatic tachycardia. [22] Additional symptoms are varied, and may include excessive sweating, a lack of sweating, heat intolerance, digestive issues such as bloating, nausea, indigestion, constipation, and diarrhea, a flu-like feeling, coat-hanger pain, forgetfulness, brain fog, and presyncope . [29] Brain fog [ edit ] One of the most disabling and prevalent symptoms in POTS is " brain fog ", [30] a term used by patient to describe the cognitive difficulties they experience. In one survey of 138 POTS patients, brain fog was defined as “forgetful” (91%), “difficulty thinking” (89%), and “difficulty focusing” (88%). Other common description was "Difficulty processing what others say" (80%), Confusion (71%), Lost (64 %), and "Thoughts moving too quickly" (40%) [31] The same survey described the most common triggers of brain fog to be fatigue (91%), lack of sleep (90%), prolonged standing (87%) and dehydration (86%). [ citation needed ] Neuropsychological testing has shown that a POTS-patient has reduced attention (Ruff 2&7 speed and WAIS-III digits forward), short-term memory ( WAIS-III digits back), cognitive processing speed ( Symbol digits modalities test ) and executive function ( Stroop word color and trails B ). [32] [33] [34] A potential cause for brain fog is a decrease in cerebral blood flow (CBF), especially in upright position. [35] [36] [37] Another theory is that interoception of excessive autonomic activity causes interoceptive prediction errors (PE) to occur. [38] A prediction error is the mismatch between a prior expectation and reality. [39] This would cause anxiety which then overwhelms the consciousness of pots-patient causing cognitive-affective symptoms.
- Orthostatic Intolerance OMIM
  
  A number sign (#) is used with this entry because of evidence that orthostatic intolerance is caused by heterozygous mutation in the gene encoding the norepinephrine transporter (SLC6A2; 163970) on chromosome 16q12. One such family has been reported. Clinical Features Orthostatic intolerance is a syndrome characterized by adrenergic symptoms that occur when an upright posture is assumed: the heart rate increases by at least 30 beats per minute, without orthostatic hypotension (Jacob et al., 1997). Most patients with orthostatic intolerance are women between the ages of 20 and 50 years (Low et al., 1995). This syndrome, first described by Da Costa (1871), has been called soldiers heart (Fraser and Wilson, 1918), neurocirculatory asthenia (Wooley, 1976), and mitral valve prolapse syndrome (Boudoulas et al., 1980). It is similar in many respects to chronic fatigue syndrome (Schondorf and Freeman, 1999).
Neuroendocrine Neoplasm Of Esophagus Orphanet

A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. ... NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.
Congenital Disorder Of Glycosylation, Type Im OMIM

A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type Im (CDG1M), also known as dolichol kinase deficiency, is caused by homozygous mutation in the DOLK gene (610746), which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. ... Helander et al. (2013) reported 2 sibs, born of consanguineous Syrian Turkish parents, with CDG type Im. The patients presented at age 4 months with severe intractable seizures and hypsarrhythmia, consistent with a clinical diagnosis of West syndrome (see 308350). ... In 2 sibs, born of consanguineous Syrian Turkish parents, with CDG type Im and a purely neurologic phenotype, Helander et al. (2013) identified a homozygous mutation in the initiating methionine codon of the DOLK gene (610746.0006). ... Kranz et al. (2007) suggested that since dolichol kinase deficiency can be detected by isoelectric focusing (IEF) of serum transferrin, the disorder could be included in the CDG I group with the designation CDG Im. INHERITANCE - Autosomal recessive GROWTH Height - Normal birth length Weight - Normal birth weight Other - Failure to thrive HEAD & NECK Head - Normal birth head circumference - Microcephaly, acquired Eyes - Sparse eyebrows - Sparse eyelashes CARDIOVASCULAR Heart - Dilated cardiomyopathy SKIN, NAILS, & HAIR Skin - Ichthyosis Hair - Sparse eyebrows - Sparse eyelashes - Minimal hair growth NEUROLOGIC Central Nervous System - Hypotonia, profound muscular (in some patients) - Seizures (in some patients) - Hypsarrhythmia (in some patients) METABOLIC FEATURES - Hypoketotic hypoglycemia (in some patients) LABORATORY ABNORMALITIES - Abnormal transferrin isoelectric focusing (IEF) - Increased disialo- and asialotransferrin - Decreased lipid-linked oligosaccharides (LLO) MISCELLANEOUS - Death in early infancy (in some patients) - Some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood MOLECULAR BASIS - Caused by mutation in the transmembrane protein 15 gene (TMEM15, 610746.0001 ) ▲ Close

DOLK
- Dolk-Congenital Disorder Of Glycosylation MedlinePlus
  
  DOLK -congenital disorder of glycosylation ( DOLK -CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems.
- Dk1-Cdg Orphanet
  
  DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.
- Dolichol Kinase Deficiency Wikipedia
  
  Dolichol kinase deficiency Other names Hypotonia and ichthyosis due to dolichol phosphate deficiency [1] This condition is inherited in an autosomal recessive manner. Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene. [2] [3] It is also known as Congenital disorder of glycosylation 1m. See also [ edit ] CEDNIK syndrome List of cutaneous conditions References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: DK1 CDG" . www.orpha.net . Retrieved 11 April 2019 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN 978-1-4160-2999-1 . ^ Kranz C, Jungeblut C, Denecke J, et al.
Familial Gastric Type 1 Neuroendocrine Tumor Orphanet

A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. ... Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis).
Coronary Artery Anomaly Wikipedia

AA = antero-left; AR = antero-right; Cx = circumfles artery; IM = intramural; IS = intraseptal; LAD = left anterior descending artery; M = mitral valve; P = posterior; PP = prepulmonic; RA = retroaortic; RC = retrocardiac; RCA = right coronary artery; T = tricuspid valve. R-ACAOS-IM [2] is observed in a higher percentage of cases (0.35% of adolescents) than L-ACAOS-IM [3] but is less likely to be associated with sudden cardiac death in athletes. ... Assessment of severity of stenosis is best achieved by intravascular ultrasound (IVUS) imaging and it should be considered in known carriers of ACAOS-IM or that have symptoms or positive stress test results or are involved in competitive exercises. ... Importantly, untreated carriers of significant ACAOS should not generally engage in competitive sports or strenuous activities. Treatment options for ACAOS-IM include both catheter-based procedures ( percutaneous coronary intervention [PCI]) and surgical interventions. PCI consists of stent angioplasty of the proximal, intramural segment by placing a thin metal tube (a stent) in order to keep open the narrowed artery. PCI of R-ACAOS-IM is feasible and quite successful, but further experience is needed in L-ACAOS-IM since few cases have been treated percutaneously, while surgery is the recommended treatment in this subpopulation, at this time.

PCYT1A, POFUT1, CERNA3
Malaria Wikipedia

The mosquitoes remain on the wall until they fall down dead on the floor. Insecticide treated nets [ edit ] A mosquito net in use. Mosquito nets help keep mosquitoes away from people and reduce infection rates and transmission of malaria. Nets are not a perfect barrier and are often treated with an insecticide designed to kill the mosquito before it has time to find a way past the net. Insecticide-treated nets are estimated to be twice as effective as untreated nets and offer greater than 70% protection compared with no net. [73] Between 2000 and 2008, the use of ITNs saved the lives of an estimated 250,000 infants in Sub-Saharan Africa. [74] About 13% of households in Sub-Saharan countries owned ITNs in 2007 [75] and 31% of African households were estimated to own at least one ITN in 2008. ... That number increased to 20.3 million (18.5%) African children using ITNs in 2007, leaving 89.6 million children unprotected [76] and to 68% African children using mosquito nets in 2015. [77] Most nets are impregnated with pyrethroids , a class of insecticides with low toxicity . ... According to the WHO and UNICEF, deaths attributable to malaria in 2015 were reduced by 60% [77] from a 2000 estimate of 985,000, largely due to the widespread use of insecticide-treated nets and artemisinin-based combination therapies. [74] In 2012, there were 207 million cases of malaria.

ICAM1, FCGR2B, HBB, CD36, NOS2, FCGR2A, TNF, CR1, G6PD, CRP, HP, ACKR1, GYPA, SLC4A1, GYPB, NCR3, TIRAP, GYPC, LTBR, CISH, IFNG, HMOX1, PKLR, ABO, ANK1, AQP4, ATP2B4, HBG2, CYTB, ENOSF1, MSMB, MST1, ZNF536, LINC00944, SMARCB1, DHODH, PDR, TREML4, ZNF804A, OR51F1, OR51B5, CDH13, PROCR, SPATA3, OR51N1P, DHFR, DDT, RECQL4, FAM155A, IGHG3, IL4, MMP26, IL6, IL10, TLR9, HLA-DRB1, CSMD1, HBE1, DNAJC5, TMPRSS13, KLHL3, HDGFL2, TLR4, ATAD1, LMLN, TENM3-AS1, MECP2, POMGNT2, MBL2, TFRC, TGFB1, MIF, HLA-B, HAMP, DHPS, SERPINA3, TLR2, IL1B, FOXP3, FHL5, ACOT7, POTEKP, POTEM, GEM, KIR3DL1, RN7SL263P, ACTG2, ACTG1, ACTB, ACTBL2, HBA2, CYP2B6, HSPA4, LSAMP, TRAP, FCGR3B, HSP90AA1, IL1A, LAMP3, CD81, OR10A4, CCL5, ABCB1, FAS, CD40LG, TEP1, CXCL8, IARS1, HLA-G, CTLA4, HBA1, INSRR, ANGPT2, TYMS, CFH, GSTP1, IFNAR1, AGT, GYPE, FCGR3A, TXN, IL13, HSPB3, APOE, MTCO2P12, ISYNA1, FCGR2C, FYB1, VDR, HLA-A, GSTM1, GSR, ATR, MBL3P, LAIR1, PNP, IL12B, MNAT1, IL1RN, CYP2D6, IGF1, CD55, ACHE, DECR1, COX2, IL3, CCL2, MAPK1, NLRP3, FBXW7, HAVCR2, THBD, VPS51, EMP1, ITGA2B, PTGS2, ANC, IL10RA, XPO1, VNN1, PLEK, UMPS, IL2, IL2RA, TPPP, VWF, ISG20, ADAMTS13, IRF1, IL7R, AIMP2, IL12RB1, CLEC11A, METAP2, CDK5R1, ING1, IL18R1, PGD, HAP1, H6PD, PRDX5, GRAP2, CXCL9, MMP9, MPO, TAP1, CCL4L2, COX1, EBI3, ITGAX, COX3, TLR6, CXCL11, MTHFR, NFKB2, NFYA, NOS1, TBC1D9, ORC1, MCF2, AKAP13, RNF19A, TLR7, NT5C3A, IRAK4, KIR2DS1, CCL4, KIR3DL2, ICOS, COQ2, PSIP1, PECAM1, TPT1, RNASE3, ARTN, TP53, POLDIP2, PDCD1, TLR1, AHSA1, UBL4A, AQP3, AGRP, H3C9P, CYP2C8, CYP2C19, GTF2H4, CRK, RNA18SN5, ANXA2, H3P37, CASP1, NANP, CCL4L1, MAPK14, CXCR3, GNAS, GLO1, FCN2, SMIM10L2B, FKBP4, CD27, FOXO3, RBM45, HM13, IL33, HK1, CCR5, IFNA13, IFNA1, H3P42, DNAJB1, CHIT1, CYP3A4, SMIM10L2A, EGF, CHI3L1, CAT, EPHA2, NSFL1C, ADRB2, MYMX, COX8A, GAPDH, ABCB6, NR1I3, TREML1, PUM3, FMN1, TICAM2, TRIM13, BMS1, FZD4, RABEPK, LANCL1, FUT9, TNFSF13B, DCTN6, CXCR6, ARL6IP5, MRGPRX1, ZNRD2, ASPM, KAT5, RAB7B, CIB1, SEMA3C, ARMH1, STING1, CFDP1, CPQ, MYLK4, DLC1, AKR1A1, PIEZO1, TMPRSS11D, HDAC9, CARTPT, DEFB4B, TIMELESS, SPHK1, TMED7-TICAM2, PSC, VNN2, PROM1, UPK3B, H3P23, H3P28, TNFRSF11A, TNFRSF18, TP63, PDXK, CNTNAP1, DHX16, STK24, H3P19, LOH19CR1, WASHC1, WASH6P, LPAR2, MIR146A, APOBEC3B, SPAG6, CLOCK, ATG5, MIR142, AIM2, ABCG2, PCSK9, MIR155, NCF1, PPIG, MIR29A, VN1R17P, GPR166P, CD163, MIR451A, CXADRP1, ARHGEF2, CERS1, SPINK5, MASP2, GEMIN4, ACD, TLR8, MPPE1, MCPH1, HSPA14, RNF34, TMED7, ARMC9, PPP1R2C, IL22, TRAF3IP2, A1CF, PDCD1LG2, SLC44A4, SGSM3, MCAT, HPGDS, B3GAT1, ROPN1L, PHGDH, RAB14, IL23A, ABCG4, IFIH1, CFC1, BTNL2, MARCHF1, POLE4, CMC2, TMED9, ACKR3, PDXP, RHOF, AICDA, POLD4, RBM25, TOLLIP, TREM1, LGR6, ADA2, BACH2, ERAP1, GOLPH3, PARS2, KRT88P, TRIM5, IL17RE, CHP1, GPR151, NRSN1, EIF5AL1, CD160, APCDD1, ERFE, OXER1, DNAJB1P1, DSTN, GPRC6A, CCNI, ADIRF, EBNA1BP2, TMED2, EHD1, RNPS1, HPSE, SEPTIN9, SCLT1, NT5C2, SLC25A21, LEO1, NLRP12, TIMD4, CDCA5, DBA2, CARD16, PTPMT1, CGAS, RAB39B, TADA1, MRGPRX3, MRGPRX4, PGLS, PANX1, SPO11, LPAR3, CBX5, POFUT2, SPPL3, NBEAL2, LUC7L, PTPRC, FGF23, EIF5, FLT3LG, FLT1, FECH, FBN2, FBN1, FANCD2, F3, EPO, ENO2, ADGRE1, ELK4, ELF4, EIF5A, EIF4G2, CXADR, EGR3, EDNRA, EDN1, S1PR3, RCAN1, ATN1, DNMT1, DEFB4A, DHX9, ACE, DBP, CYP1A2, CYC1, GABPA, GCHFR, GDF1, GPR42, IL4R, IL1R1, IGFBP1, IFNGR1, IFNB1, IFNA2, IFI27, IDE, HTN3, HSPA9, HSD11B1, HRES1, HPRT1, HPR, HPGD, HMGB1, HLA-DOA, UBE2K, HGF, SERPIND1, HBG1, GTF3A, GSTT1, GSN, GPX1, GPT, GRK5, CYBB, CTSL, IL9, ANXA1, C3, BSG, BRS3, BRCA2, PRDM1, BCL2, BAX, ASPA, ASIP, ARR3, NUDT2, ANXA7, ANXA4, ANPEP, CSH2, AMBP, ALOX5, ALB, AHR, AFP, ADSL, ADRA2B, ADRA1A, ADORA2A, ADH1B, ADA, ACP1, ACACA, CAST, CASR, CD1B, CD1C, CSH1, CSF1R, CSF1, CS, CRYZ, CREM, CR2, CLDN4, CPB1, CNTF, CCR4, CLU, ERCC8, CTSC, CEL, CDC25C, CD69, CD68, CD40, ENTPD1, CD34, CD28, CD19, CD14, CD9, CD1E, CD1D, IL5, IL12A, FOSL1, SELE, SPTA1, SPP1, SPINK1, SPG7, SOD3, SOD1, SMN1, SLC16A1, SLC11A1, SLC6A7, SLC2A1, SGCG, SET, SEA, ABCA1, SDC1, CXCL5, CCL22, CCL18, CCL3L1, CCL3, CCL1, SAFB, SORT1, RPS19, RBP2, RANBP2, PEX19, SSR2, SSTR4, DENND2B, STAT6, DDX39B, PRRC2A, PFBI, RAB7A, CXCR4, MOGS, ZBTB16, TRPV1, VCP, USP1, TYRP1, TTR, TTPA, TRPC1, TRP-AGG2-5, TPO, TPH1, TNFRSF1B, TLR3, TGFB2, TRBV20OR9-2, TCN2, HNF1A, TADA2A, ADAM17, TAC1, STK3, PTPRH, PTHLH, IL15, KIR3DS1, MAL, MAF, LTB, LTA, LMAN1, LEPR, LDLR, LCN2, LBR, RPSA, LAG3, KRT13, KNG1, KIR2DS5, PSMD9, KIR2DL3, KIR2DL2, KDR, KCNG1, KARS1, ITPA, ITGB2, ITGAM, ITGAL, CXCL10, IDO1, ILF3, IL18, MAP2, MAP6, MEFV, MVD, PSMD7, PSMD2, PSMB9, PSEN1, PSAP, PRSS1, PROC, MAP2K1, PRKG1, PRKAR1A, PPP1R1A, PPARG, SEPTIN4, PLP1, PGM1, PGAM1, P2RX7, SLC22A18, TNFRSF11B, OMD, ODC1, NOS3, NQO2, NFE2L2, NEK2, MYD88, MYC, H3P5
- Malaria, Susceptibility To OMIM
  
  A reduction in mortality greater than that attributable directly to malaria had been observed after the prevention of malaria by insecticides, chemoprophylaxis, and insecticide-impregnated bed nets. Previous observations that direct malaria mortality cannot account for observed hemoglobin S gene frequencies suggest that the findings of this study may apply equally to other malaria resistance genes. ... Although the relative strength of the protection is less than that of the sickle-cell variant, the greater frequency of the DQB1 (see HLA-DQB1; 604305) polymorphism makes the net effect on resistance to malaria comparable.
- Malaria Orphanet
  
  A life-threatening parasitic disease caused by Plasmodium ( P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.
- Malaria GARD
  
  Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly. Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.
- Malaria Mayo Clinic
  
  To reduce malaria infections, world health programs distribute preventive drugs and insecticide-treated bed nets to protect people from mosquito bites. The World Health Organization has recommended a malaria vaccine for use in children who live in countries with high numbers of malaria cases. Protective clothing, bed nets and insecticides can protect you while traveling. ... Sprays containing permethrin are safe to apply to clothing. Sleep under a net. Bed nets, particularly those treated with insecticides, such as permethrin, help prevent mosquito bites while you are sleeping.
Transcobalamin Deficiency Orphanet

Management and treatment Treatment of TC involves maintenance of a very high serum cobalamin concentration (1,000-10,000 pg/ml) by intramuscular (IM) administration of hydroxocobalamin. Oral treatment or treatment with cyanocobalamin instead of hydroxocobalamin may result in poorer outcomes. Treatment with IM hydroxocobalamin at least once a week is recommended, with monitoring of biochemical and hematological parameters to ensure that treatment is effective.

TCN2, CBLIF, MMUT, PPBP, TCN1
- Transcobalamin Deficiency MedlinePlus
  
  Transcobalamin deficiency is a disorder that impairs the transport of cobalamin (also known as vitamin B12) within the body. Cobalamin is obtained from the diet; this vitamin is found in animal products such as meat, eggs, and shellfish. An inability to transport cobalamin within the body results in cells that lack cobalamin, which they need for many functions including cell growth and division (proliferation) and DNA production. The absence of cobalamin leads to impaired growth, a shortage of blood cells, and many other signs and symptoms that usually become apparent within the first weeks or months of life. The first signs of transcobalamin deficiency are typically a failure to gain weight and grow at the expected rate (failure to thrive), vomiting, diarrhea, and open sores (ulcers) on the mucous membranes such as the lining inside the mouth.
- Transcobalamin Ii Deficiency OMIM
  
  A number sign (#) is used with this entry because transcobalamin II deficiency is caused by homozygous or compound heterozygous mutation in the gene encoding transcobalamin II (TCN2; 613441) on chromosome 22q12. Description Transcobalamin II deficiency is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities (summary by Haberle et al., 2009). Hall (1981) gave a clinically oriented review of congenital defects of vitamin B12 transport, and Frater-Schroder (1983) gave a genetically oriented review.
Gfer Syndrome Wikipedia

Mechanism [ edit ] The most major role of GFER is inside the mitochondria's IMS (it is imported into the mitochondria from the cytosol ). ... These unfolded proteins will not be able to enter the matrix and therefore: The mitochondria will lack various building blocks and its ability to maintain itself will be hindered (e.g., It will not be able to produce cytochrome c oxidase and other building blocks for the ETC, maintenance, correction of errors and splitting). The IMS will become bloated with partially folded proteins with structural damage.
Pancreatic Neuroendocrine Tumor Wikipedia

PanNETs are a type of neuroendocrine tumor , representing about one third of gastroenteropancreatic neuroendocrine tumors (GEP-NETs). Many PanNETs are benign , while some are malignant . ... However, morphological imaging alone is not sufficient for a definite diagnosis [14] [16] On biopsy , immunohistochemistry is generally positive for chromogranin and synaptophysin . [17] Genetic testing thereof typically shows altered MEN1 and DAXX / ATRX . [17] Staging [ edit ] The 2010 WHO classification of tumors of the digestive system grades all the neuroendocrine tumors into three categories, based on their degree of cellular differentiation (from well-differentiated "NET G1" through to poorly-differentiated "NET G3"). ... Combinations of several medicines have been used, such as doxorubicin with streptozocin and fluorouracil (5-FU) [12] and capecitabine with temozolomide. [ citation needed ] Although marginally effective in well-differentiated PETs, cisplatin with etoposide has some activity in poorly differentiated neuroendocrine cancers (PDNECs), [12] particularly if the PDNEC has an extremely high Ki-67 score of over 50%. [8] : 30 Several targeted therapy agents have been approved in PanNETs by the FDA based on improved progression-free survival (PFS): everolimus (Afinitor) is labeled for treatment of progressive neuroendocrine tumors of pancreatic origin in patients with unresectable, locally advanced or metastatic disease. [20] [21] The safety and effectiveness of everolimus in carcinoid tumors have not been established. [20] [21] sunitinib (Sutent) is labeled for treatment of progressive, well-differentiated pancreatic neuroendocrine tumors in patients with unresectable locally advanced or metastatic disease. [22] [23] Sutent also has approval from the European Commission for the treatment of 'unresectable or metastatic, well-differentiated pancreatic neuroendocrine tumors with disease progression in adults'. [24] A phase III study of sunitinib treatment in well differentiated pNET that had worsened within the past 12 months (either advanced or metastatic disease) showed that sunitinib treatment improved progression-free survival (11.4 months vs. 5.5 months), overall survival , and the objective response rate (9.3% vs. 0.0%) when compared with placebo. [25] Genetics [ edit ] Pancreatic neuroendocrine tumors may arise in the context of multiple endocrine neoplasia type 1 , Von Hippel–Lindau disease , neurofibromatosis type 1 (NF-1) or tuberose sclerosis (TSC) [26] [27] Analysis of somatic DNA mutations in well-differentiated pancreatic neuroendocrine tumors identified four important findings: [28] [6] as expected, the genes mutated in NETs, MEN1 , ATRX , DAXX , TSC2 , PTEN and PIK3CA , [28] are different from the mutated genes previously found in pancreatic adenocarcinoma . [29] [30] one in six well-differentiated pancreatic NETs have mutations in mTOR pathway genes, such as TSC2 , PTEN and PIK3CA . [28] The sequencing discovery might allow selection of which NETs would benefit from mTOR inhibition such as with everolimus , but this awaits validation in a clinical trial . mutations affecting a new cancer pathway involving ATRX and DAXX genes were found in about 40% of pancreatic NETs. [28] The proteins encoded by ATRX and DAXX participate in chromatin remodeling of telomeres ; [31] these mutations are associated with a telomerase -independent maintenance mechanism termed ALT (alternative lengthening of telomeres) that results in abnormally long telomeric ends of chromosomes . [31] ATRX / DAXX and MEN1 mutations were associated with a better prognosis . [28] References [ edit ] ^ Burns WR, Edil BH (March 2012).

MEN1, ATRX, DAXX, ELK3, TP53, EPHB1, SLC6A2, CEACAM5, CEACAM7, UQCRFS1, DHDDS, CHPT1, RALBP1, CIB1, SEMA4D, RIPK1, CXCR4, VEGFA, TTR, GNA12, TSC2, TFE3, CDKN1B, PSG2, POMC, MYCN, CEACAM3, GRN, MUC16
Dowling-Degos Disease GARD

Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation) in the body's folds and creases.

ADAM10, KRT5, POFUT1, POGLUT1, ADAR
- Reticulate Acropigmentation Of Kitamura OMIM
  
  A number sign (#) is used with this entry because of evidence that reticulate acropigmentation of Kitamura (RAK) is caused by heterozygous mutation in the ADAM10 gene (602192) on chromosome 15q21. Description Reticulate acropigmentation of Kitamura (RAK) is a rare pigmentary disorder that usually shows an autosomal dominant pattern of inheritance with high penetrance. Typical features include reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities; progression of the eruptions stops in middle age. The increased pigmentation is found on the flexor aspects of the wrists, neck, patella, and olecranon.
- Reticulate Acropigmentation Of Kitamura Wikipedia
  
  Reticulate acropigmentation of Kitamura Other names RAK [1] Specialty Dermatology Reticulate acropigmentation of Kitamura consists of linear palmar pits and pigmented macules 1 to 4 mm in diameter on the volar and dorsal aspects of the hands and feet, usually inherited in an autosomal-dominant fashion. [2] : 856 [3] [4] Contents 1 Genetics 2 See also 3 References 4 External links Genetics [ edit ] This condition is associated with mutations in the a disintegrin and metalloproteinase domain-containing protein 10 ( ADAM10 ) gene. This association was first shown in 2013. See also [ edit ] Skin lesion List of cutaneous conditions References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Reticulate acropigmentation of Kitamura" . www.orpha.net . Retrieved 23 April 2019 . ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders.
- Reticulate Acropigmentation Of Kitamura Orphanet
  
  A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.
Azotemia, Familial OMIM

Furthermore, urea is reabsorbed actively by the tubule; this process is apparently brought into play particularly in states of low protein intake. Net reabsorption might be due to exaggerated active reabsorption or to deficient secretion.
2016 Munich Shooting Wikipedia

. ^ "Akute Terrorlage – drei Täter auf der Flucht, GSG 9 im Einsatz" [Acute terror situation – three perpetrators on the run, GSG 9 deployed]. ... "Munich Shooter Likely Bought Reactivated Pistol on Dark Net" . The Wall Street Journal . Retrieved 25 July 2016 . ^ "München: Amokschütze plante die Tat seit einem Jahr" [Munich: gunman planned action for a year]. ... "Festnahme eines 16 jährigen Afghanen im erweiterten Zusammenhang mit dem Amoklauf – Laim..." ... The Daily Beast . ^ az/rah (Mai 16, 2018). "Rechte Fanatiker feiern im Netz den Schützen vom OEZ" [Right-wing fanatics celebrate in the net the shooter of the OEZ].
Pleomorphic Anaplastic Neuroblastoma Wikipedia

Arch Pathol Lab Med 113:11-12. ^ Shimada H, Ambros IM, Dehner LP, Joshi VV, Roald B (1999). ... Cancer 100(2):390-397. Shimada H, Ambros IM, Dehner LP, Hata J, Joshi VV, Roald B (1999).
Insulinoma GARD

Insulinoma is a type of pancreatic neuroendocrine tumor (pancreatic NET), which refers to a group of rare tumors that form in the hormone-making cells of the pancreas.

MEN1, RPS15, CDKN2B, CDKN2C, IAPP, GCG, CDKN1B, CDKN1A, SST, FOXM1, GLP1R, PDX1, INS, IL1B, RIT2, PTPRN2, GAD1, EHMT1, IGF2, ZGLP1, CDKN2A, SLC30A8, SLC30A10, GCK, SSTR2, FFAR1, YY1, LEP, DPP4, INSM1, MNX1, HSPD1, GAD2, SLC2A2, CASR, RALBP1, RIPK1, PDHX, BTC, UQCRFS1, TP53, TGM2, SSTR5, CDKN1C, INSR, ABCC8, SLC6A2, SSTR4, SSTR3, WFS1, NIT1, SERPINA1, PTPRN, GIP, GCKR, CORO1A, H3P47, PRL, H3P10, ERBB2, GAST, EGR1, ELK3, CALCA, CASP3, EPHB1, G6PC, DLK1, CCN5, SQSTM1, PTTG1, GCM2, LHX2, KL, MAPK8IP1, INSL5, IRS2, ZNRD2, KHDRBS1, DCTN6, LILRB1, FASTK, CCND1, PDIA5, FAS, ATF6, KDM1A, PDZD2, BCL2, BRCA1, TNKS, PLA2G6, HNF1A, TCF19, TGFA, TGFB1, CASP8, THBD, TKT, TSPAN7, TPD52, TRP-AGG2-5, TRPC1, EIPR1, TXN, TYRP1, UCP2, VDR, CACNA1D, BRAF, STAB1, ERP44, NUP62, KCNH4, CAT, KCNH8, GPR119, STOML3, AKT1, HCAR2, GOLGA6A, TICAM2, HES3, MIR107, MIR144, MIR155, MIR204, MIR21, MIR375, INS-IGF2, ADSS2, TMED7-TICAM2, ECT, LINC02210-CRHR1, H3P23, ADM, SLC22A12, TXNDC5, TRABD, RCBTB1, FGF21, MCAT, MCTS1, TMED7, ADIPOR1, DCTN4, CDKAL1, SLC25A38, BANK1, MEG3, ZC3H12A, APOC2, SOX6, SELENOS, IGSF9, SEMA6A, HAMP, G6PC2, PDIA2, ANGPT2, SYP, STAT5A, STC1, STAT5B, KCNJ1, KCNJ6, KRT8, KRT16, KRT19, DECR1, LEPR, LGALS3, LMO2, EPCAM, SMAD2, SMAD3, SMAD4, MAPT, MC2R, MDK, RAB8A, CUX1, MET, CIITA, MLH1, EGF, EGFR, INPPL1, HK1, MTOR, FGF13, GNA12, GPD2, FBN1, GRN, GSK3B, GSR, GTF2H1, ESR2, ELK1, HLA-DQB1, HMGN2, HNF4A, EPHB2, IFI27, IGFBP1, IGFBP2, IL4, IL10, MRC1, NCAM1, NEDD4, SLC2A1, RAP1A, REG1A, CPE, CMA1, S100A8, SCT, CCL2, CXCL12, SDHD, CHGA, RAB3A, CDKN2D, SLC16A1, SNX1, CDC42, CDK1, CCND3, CCNC, CCK, STAT1, RANBP2, CR2, NF1, PIK3CG, NFE2L1, CTSB, NME1, OPA1, PAX4, PAX6, PCSK1, ENPP1, CTNNB1, PKD1, CRHR1, POLD1, MAPK1, MAPK3, MAPK8, ADCYAP1, PRSS1, PSEN2, PSMD9, PTEN, ACO2
- Insulinoma Wikipedia
  
  Insulinoma Pathology of pancreatic endocrine tumor (insulinoma). Specialty Oncology An insulinoma is a tumor of the pancreas that is derived from beta cells and secretes insulin . It is a rare form of a neuroendocrine tumor . Most insulinomas are benign in that they grow exclusively at their origin within the pancreas, but a minority metastasize . Insulinomas are one of the functional pancreatic neuroendocrine tumor (PNET) group ("functional" because it increases production of insulin). [1] In the Medical Subject Headings classification, insulinoma is the only subtype of "islet cell adenoma". [2] Beta cells secrete insulin in response to increases in blood glucose . The resulting increase in insulin acts to lower blood glucose back to normal levels, at which point further secretion of insulin is stopped. In contrast, the secretion of insulin by insulinomas is not properly regulated by glucose, and the tumors continue to secrete insulin causing glucose levels to fall further than normal.
- Insulinoma Orphanet
  
  Insulinoma is the most common type of functioning pancreatic neuroendocrine tumor (see this term) characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia. Epidemiology The incidence in the general population is 1/1,000,000-1/250,000 (but higher in autopsy studies). There is a slight female predominance. It is the most common endogenous cause of hyperinsulinemic hypoglycemia. Malignant insulinoma has an incidence 0.01/100,000 in Europe. Clinical description Insulinoma can present at any age but the median age of diagnosis is in the 5th decade of life. It manifests with various autonomic and neuroglycopenic symptoms such as tremor, palpitations, weakness, diaphoresis, hyperphagia, visual disturbances, confusion, behavioral and personality changes, seizures and coma.
Mediastinal Fibrosis Wikipedia

Seminars in Respiratory Infections . 16 (2): 119–30. doi : 10.1053/srin.2001.24242 . PMID 11521244 . ^ Mitchell IM, Saunders NR, Maher O, Lennox SC, Walker DR (1986).
- Igg4-Related Mediastinitis Orphanet
  
  A rare systemic autoimmune disease characterized by an aggressive fibroinflammatory process with infiltration of IgG4-positive plasma cells in the mediastinum, potentially resulting in compression and functional impairment of vital mediastinal structures, and associated with elevated serum IgG4. Clinical symptoms are unspecific and include pain or symptoms due to mass effect. The condition may occur together with IgG4-related disease in other parts of the body.
Epstein–barr Virus-Associated Lymphoproliferative Diseases Wikipedia

Individuals who are immunodeficient because of disease, immunosuppressive drugs , or old age immunosenescence may exhibit a more pronounced hyperplasia of affected nodes, higher numbers of EBV+ cells, and a more disseminated disorder termed polymorphic lymphoproliferative disorder. [1] These disorders almost always resolve spontaneously but in very rare cases progress over months or years to EBV+ Hodgkin lymphoma or EBV+ diffuse large B-cell lymphoma of the elderly . [15] Epstein–Barr virus-positive infectious mononucleosis [ edit ] Main article: Infectious mononucleosis Infectious mononucleosis (IM) is caused by EBV in ~90% of cases; the remaining cases are caused by human cytomegalovirus , adenovirus , or toxoplasma . [16] HIV , rubella , and Hepatitis viruses A, B, and C can produce an illness resembling IM. The acute EBV infection is usually asymptomatic or mild in children <5 years old whereas 25–75% of adolescents and adults develop overt IM after infection. [10] The signs and symptoms of IM occur within weeks of EBV infection. ... The tonsils and cervical lymph nodes in these cases are hyperplasic and contain mixtures of normal-appearing lymphocytes, activated lymphocytes , plasma cells , and Reed–Sternberg-like cells . [14] Many of these normal-appearing and activated B cells and a small percentage of the tissue's T and NK cells are EBV+ with the virus being mostly in its lytic cycle rather than latent phases. [1] The diagnosis of mild IM cases is often overlooked or made based on clinical and routine laboratory findings. These cases as well as asymptomatic and more severe cases of EBV infection are diagnosed definitively as EBV-associated by finding during the initial infection period the Epstein–Barr virus, IgM antibody to EBV viral-capsid antigen (VCA-IgM), IgG antibody to VCA (IgG-VCA), and IgG antibody to EBV viral- capsid antigen (EBNA1-IgG) in the blood [10] and/or finding EBV in the oral/nasal secretions. [14] There are no controlled studies on the treatment of uncomplicated EBV+ IM. Short-term courses of corticosteroid drugs are often prescribed for patients afflicted with airways obstruction, autoimmune reactions (e.g. autoimmune anemia or thrombocytopenia ), or other complications of the disease. [17] Treatment of these and the severest IM cases generally use regimens directed at the specific features of each type of complication. [10] Epstein–Barr virus-related hemophagocytic lymphohistiocytosis [ edit ] Main article: Hemophagocytic lymphohistiocytosis Main article: Macrophage activation syndrome Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder characterized by a systemic inflammatory or, in extreme cases, overwhelming cytokine storm condition. ... IM) or asymptomatic EBV infection. Characteristic findings that are also diagnostic criteria for the disorder are: 1) symptoms similar to those in infectious mononucleosis but persist for >3 months; 2) high blood levels of EBV DNA (i.e. >25 viral copies per mg of total DNA); 3) histologic evidence of organ disease; 4) presence of EBV RNA (e.g. an EBER) in an afflicted organ or tissue; and 5) occurrence of these findings in individuals who do not have a known immunodeficiency, malignancy, or autoimmune disorder.