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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 .
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.
Brittle Cornea Syndrome GARD

Brittle cornea syndrome (BCS ) is a genetic disease involving the connective tissue in the eyes, ears, joints, and skin. ... Other symptoms may include hearing loss, abnormal positioning of the hip bones (hip dysplasia), and soft skin with abnormal scarring. There are 2 types of BCS. BCS type 1 is caused by changes (mutations) in the ZNF469 gene and BCS type 2 is caused by changes in the PRDM5 gene. BCS is inherited in an autosomal recessive manner. The diagnosis of BCS is made based on symptoms and may be confirmed through genetic testing. Management of BCS may include monitoring for vision loss, hearing loss, and the development of muscle or skeletal problems.

ZNF469, PRDM5, BCS1L, FN1, SEC24D
- Brittle Cornea Syndrome 2 OMIM
  
  Description Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). ... Burkitt Wright et al. (2011) reported a large consanguineous Pakistani family (BC-001) in which 4 sisters had corneal rupture after minor trauma. ... Burkitt Wright et al. (2011) identified a second consanguineous Pakistani family (BC-002) in which affected individuals had thin corneas, blue sclerae, mixed sensorineural/conductive deafness with hypercompliant tympanic membranes, and small joint hypermobility. ... In affected members of another consanguineous Pakistani family with BCS (BC-002), Burkitt Wright et al. (2011) identified homozygosity for a nonsense mutation in PRDM5 (614161.0002). Further screening of patient samples identified homozygous mutations in PRDM5 in 5 additional BCS families, including 2 families previously studied by Cameron (1993) (see, e.g., 614161.0003-614161.0005).
- Brittle Cornea Syndrome 1 OMIM
  
  Description Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). ... Christensen et al. (2010) concluded that BCS is a disorder that affects a variety of connective tissues. ... Christensen et al. (2010) suggested that the association with red hair in some individuals with BCS is likely to occur by chance. Khan et al. (2010) reported a consanguineous Syrian family in which 2 sibs had brittle cornea syndrome and 1 sib had blue sclerae only. ... All 4 patients had a common haplotype in homozygous state for 16q24 markers; the same haplotype was not found in any of 52 control subjects (p less than 0.00001). The BCS locus was thus mapped to a 4.7-Mb interval between markers D16S3423 and D16S3425. ... Burkitt Wright et al. (2011) noted that the phenotypic spectrum in BCS patients with mutations in either the ZNF469 or PRDM5 (614161) genes is extremely similar if not identical (see BCS2, 614170), suggesting that the 2 genes act within the same developmental pathway.
- Brittle Cornea Syndrome Orphanet
  
  A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
- Ehlers-Danlos Syndrome MedlinePlus
  
  Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications. The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features.
Hereditary Breast And Ovarian Cancer Syndrome Orphanet

Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. ... The lifetime risk of developing hereditary BC (HBC) and/or OC can reach 80%. Clinical description HBC is not associated with specific phenotypic features. Etiology Autosomal dominant alterations in two genes, BRCA1 and BRCA2 , are likely to account for most familial cases of early-onset BC and/or ovarian cancer (OC), and for 3-4% of all BC. ... Diagnostic methods HBC diagnosis relies upon the following characteristics: increasing numbers of affected family members through the same bloodline (either maternal or paternal), early onset of disease, an excess of bilateral disease, an association with ovarian cancer (at any age), and occurrence of BC in males. Genetic testing confirms the diagnosis and allows better management of people at high risk of developing BC and/or OC.

BRCA1, BRCA2, TP53, RAD51C, CHEK2, PALB2, RAD51D, BRIP1, MRE11, BARD1, NBN, PTEN, RAD50, RAD51, ATM, MLH1, ABRAXAS1, RAD51B, RPL21P4, C11orf65, MSH6, MSH2, PMS2, KRT88P, KRAS, PRSS1, BRCA3, MRC1, AR, WT1, SEM1, VHL, PARP1, RASSF7, ALYREF, HOXB13, RNU1-4, OLA1, HSD17B7, BCCIP, EMSY, DHRS11, SLC22A12, HSD17B13, MIR146A, S100A2, PMS1, RB1, FANCC, APRT, CDH1, CDK2, CDKN2A, COL11A2, CRYGD, DHX8, EPHA3, ERBB2, ERCC4, FANCA, FAP, RAD52, HRAS, HSD11B2, HSD17B1, IGFBP4, KIT, MFAP1, MSH3, NF2, NOTCH3, NRAS, APC, LOC111589215
- Brca2 Hereditary Breast And Ovarian Cancer Syndrome GARD
  
  BRCA2 hereditary breast and ovarian cancer syndrome ( BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined.
- Breast-Ovarian Cancer, Familial, Susceptibility To, 4 OMIM
  
  A number sign (#) is used with this entry because of evidence that susceptibility to familial breast-ovarian cancer-4 (BROVCA4) results from heterozygous germline mutation in the RAD51D gene (602954) on chromosome 17q11. For a discussion of genetic heterogeneity of breast-ovarian cancer susceptibility, see BROVCA1 (604370). For general discussions of breast cancer and ovarian cancer, see 114480 and 167000, respectively. Clinical Features Loveday et al. (2011) identified 8 families with breast-ovarian cancer associated with mutation in the RAD51D gene. Pathology information was available for 4 ovarian cancers from RAD51D mutation carriers; 3 of the cancers were serous adenocarcinoma and 1 was an endometrioid cancer.
- Breast-Ovarian Cancer, Familial, Susceptibility To, 2 OMIM
  
  A number sign (#) is used with this entry because susceptibility to familial breast-ovarian cancer-2 (BROVCA2) results from heterozygous germline mutations in the BRCA2 gene (600185) on chromosome 13q13. For a discussion of genetic heterogeneity of breast-ovarian cancer susceptibility, see BROVCA1 (604370). For general discussions of breast cancer and ovarian cancer, see 114480 and 167000, respectively. Clinical Features Wooster et al. (1994) reported a large family from Utah segregating early-onset breast cancer, ovarian cancer, and male breast cancer. Thorlacius et al. (1995) described a family with multiple cases of male breast cancer but no increase in female breast cancer.
- Breast-Ovarian Cancer, Familial, Susceptibility To, 1 OMIM
  
  A number sign (#) is used with this entry because susceptibility to familial breast-ovarian cancer-1 (BROVCA1) results from heterozygous germline mutations in the BRCA1 (113705) gene on chromosomes 17q21. See also susceptibility to familial breast-ovarian cancer-2 (BROVCA2; 612555), which results from mutations in the BRCA2 gene (600185) on chromosome 13q12.3; and BROVCA3 (613399), caused by mutation in the RAD51C gene (602774) on chromosome 17q21-q24. For general discussions of breast cancer and ovarian cancer, see 114480 and 167000, respectively. Clinical Features Familial Breast Cancer Features characteristic of familial, versus sporadic, breast cancer are younger age at diagnosis, frequent bilateral disease, and frequent occurrence of disease among men Hall et al. (1990). According to the conclusions of the Breast Cancer Linkage Consortium (1997), the histology of breast cancers in women predisposed by reason of carrying BRCA1 and BRCA2 mutations differs from that in sporadic cases, and there are differences between breast cancers in carriers of BRCA1 and BRCA2 mutations.
- Hereditary Breast–ovarian Cancer Syndrome Wikipedia
  
  Hereditary breast–ovarian cancer syndrome Other names HBOC Ovarian and breast cancer patients in a pedigree chart of a family Specialty Obstetrics and gynaecology , endocrinology , dermatology , oncology , medical genetics Hereditary breast–ovarian cancer syndromes ( HBOC ) are cancer syndromes that produce higher than normal levels of breast cancer , ovarian cancer and additional cancers in genetically related families (either one individual had both, or several individuals in the pedigree had one or the other disease). It accounts for 90% of the hereditary cancers. [1] The hereditary factors may be proven or suspected to cause the pattern of breast and ovarian cancer occurrences in the family. [2] The name HBOC may be misleading because it implies that this genetic susceptibility to cancer is mainly in women. In reality, all sexes have the same rates of gene mutations and HBOC can predispose to other cancers including prostate cancer and pancreatic cancer. [3] For this reason, the term "King syndrome" has recently come into use. The new name references Mary-Claire King who identified the genes BRCA1 and BRCA2. Contents 1 Causes 2 Prevention 3 References 4 External links Causes [ edit ] A number of genes are associated with HBOC. [4] The most common of the known causes of HBOC are: BRCA mutations : [4] Harmful mutations in the BRCA1 and BRCA2 genes can produce very high rates of breast and ovarian cancer, as well as increased rates of other cancers.
- Brca1 Hereditary Breast And Ovarian Cancer Syndrome GARD
  
  BRCA1 hereditary breast and ovarian cancer syndrome ( BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner.
- Breast-Ovarian Cancer, Familial, Susceptibility To, 3 OMIM
  
  A number sign (#) is used with this entry because susceptibility to familial breast-ovarian cancer-3 (BROVCA3) results from heterozygous germline mutation in the RAD51C gene (602774) on chromosome 17q21-q24. For a discussion of genetic heterogeneity of breast-ovarian cancer susceptibility, see BROVCA1 (604370). For general discussions of breast cancer and ovarian cancer, see 114480 and 167000, respectively. Clinical Features Meindl et al. (2010) identified 6 unrelated German pedigrees with breast-ovarian cancer associated with heterozygous germline mutations in the RAD51C gene. Each family had at least 2 affected women. The mean age of onset was 53 years (range 33 to 78) for breast cancer and 60 years (range 50 to 81) for ovarian cancer.
Bowen-Conradi Syndrome Orphanet

Outside this population, BCS is considered very rare and has only been reported clinically in 9 patients worldwide to date. To date, there are no non-Hutterite patients reported with biallelic EMG1 pathogenic variants. Clinical description Prenatally BCS is characterized by intrauterine growth retardation and often a breech presentation. BCS patients fail to thrive, experience severe feeding problems and seldom live past infancy. ... Etiology In the Hutterite population, BCS is over-represented secondary to a founder effect, and is due to a missense mutation in the EMG1 gene located to 12p13.3, leading to disturbances in ribosomal biosynthesis. ... The diagnosis can first be identified on antenatal ultrasound; however the findings (particularly in a non-Hutterite infant) are non-specific and would likely not suggest BCS. In a Hutterite fetus, even in the absence of a positive family history, findings such as microcephaly, contractures, and rocker-bottom feet would be strongly suggestive of BCS.

EMG1, VWF, UTP14A
- Bowen-Conradi Syndrome GARD
  
  Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the head and facial area. Other physical abnormalities include small head , prominent nose, small chin , mild joint restriction, clinodactyly , camptodactyly , foot deformities, and/or undescended testes ( cryptorchidism ) in affected males. Some affected infants may also have kidney, brain, and/or other abnormalities. Many infants die within the first few months of life. This condition is inherited in an autosomal recessive fashion.
- Bowen-Conradi Syndrome OMIM
  
  A number sign (#) is used with this entry because Bowen-Conradi syndrome (BWCNS) is caused by homozygous mutation in the EMG1 gene (611531) on chromosome 12p13. Clinical Features Among the offspring of second-cousin Hutterite parents, Bowen and Conradi (1976) described 2 males with a distinctive syndrome: prominent 'proud' nose, micrognathia, fifth finger clinodactyly, 'rocker-bottom' feet, and death in the first months of life. No autopsy information was available. Hunter et al. (1979) reported on 5 additional Hutterite cases. Low birth weight, microcephaly, and mild joint restriction were additional nonspecific features. The causative mutation appears to be widely distributed among the 3 North American sects (leuts) of Hutterites.
- Bowen–conradi Syndrome Wikipedia
  
  Bowen–Conradi syndrome Other names BCS [1] or BWCNS [2] Bowen–Conradi syndrome is a disease in humans that can affect children. [2] The disease is due to an autosomal recessive abnormality of the EMG1 gene , which plays a role in small ribosomal subunit (SSU) assembly. [1] [3] The preponderance of diagnoses has been in North American Hutterite children, but BWCNS can affect other population groups. [2] [4] BWCNS is a ribosomopathy . [1] [5] A D86G mutation of EMG1 destroys an EcoRV restriction endonuclease site in the most highly conserved region of the protein. [3] Skeletal dysmorphology is seen [2] [4] and severe prenatal and postnatal growth failure usually leads to death by one year of age. [6] References [ edit ] ^ a b c Sondalle SB, Baserga SJ (2014).
- Bowen-Conradi Syndrome MedlinePlus
  
  Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly ), but is longer than expected compared with its width (dolichocephaly ). Characteristic facial features include a prominent , high-bridged nose and an unusually small jaw (micrognathia ) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly ) or permanently flexed (camptodactyly ), feet with soles that are rounded outward (rocker-bottom feet ), and restricted joint movement.
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).
Budd-Chiari Syndrome Orphanet

Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. ... Obstructions are generally caused by thrombosis (primary BCS). With time, thrombi reorganise to form a fibrous tissue that leads either to localised stenosis of the thrombotic vein or to diffuse obliteration resulting in its transformation into fibrous cords. Localised stenoses may present as the appearance of a membrane-like structure. Secondary BCS results from tumour invasion into the lumen or compression of the vein by an expansive lesion. The principle manifestations of BCS are ascites (which are often massive and intractable) leading to undernutrition and renal insufficiency, gastrointestinal haemorrhage due to portal hypertension, and hepatic insufficiency resulting in encephalopathy and severe infections. However, asymptomatic forms have also been reported. Etiology Primary BCS is associated with a combination of factors that lead to a susceptibility for venous thrombosis: primary myeloproliferative syndromes (present in 50% of cases and manifesting as a 'forme fruste' or atypical forms of the disease, but identified through detection of a mutation in the JAK2 gene), Factor V Leiden thrombophilia, protein C deficiency, antiphospholipid syndrome, Behcet disease, paroxysmal nocturnal haemoglobinuria (see these terms), use of oestrogen-progesterone oral contraceptives and inflammatory colitis.

F5, JAK2, TET2, MPL, CD55, F2, SERPINE1, AFP, VKORC1, STMN2, GFI1B, THBS1, PROC, MTHFR, LCN2, MMP7, SERPINC1, GPLD1, EPO, DBI, CYP2C9, CALR, BCS1L, ZNF469
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.
Lymphatic Filariasis Wikipedia

Specialty Infectious disease Symptoms None, severe swelling of the arms, legs, breasts, or genitals [2] Causes Filarial worms spread by mosquitos [3] Diagnostic method Microscopic examination of blood [4] Prevention Bed nets , mass deworming [2] Medication Albendazole with ivermectin or diethylcarbamazine [2] Frequency 38.5 million (2015) [5] Lymphatic filariasis is a human disease caused by parasitic worms known as filarial worms . [2] [3] Most cases of the disease have no symptoms . [2] Some people, however, develop a syndrome called elephantiasis , which is marked by severe swelling in the arms, legs, breasts , or genitals . [2] [6] The skin may become thicker as well, and the condition may become painful. [2] The changes to the body have the potential to harm the person's social and economic situation. [2] The worms are spread by the bites of infected mosquitoes . [2] Three types of worms are known to cause the disease: Wuchereria bancrofti , Brugia malayi , and Brugia timori , with Wuchereria bancrofti being the most common. [2] These worms damage the lymphatic system . [2] The disease is diagnosed by microscopic examination of blood collected during the night. [4] The blood is typically examined as a smear after being stained with Giemsa stain . [4] Testing the blood for antibodies against the disease may also permit diagnosis. [4] Other roundworms from the same family are responsible for river blindness . [7] Prevention can be achieved by treating entire groups in which the disease exists, known as mass deworming . [2] This is done every year for about six years, in an effort to rid a population of the disease entirely. [2] Medications used include antiparasitics such as albendazole with ivermectin , or albendazole with diethylcarbamazine . [2] The medications do not kill the adult worms but prevent further spread of the disease until the worms die on their own. [2] Efforts to prevent mosquito bites are also recommended, including reducing the number of mosquitoes and promoting the use of bed nets . [2] In 2015 about 38.5 million people were infected. [5] About 950 million people are at risk of the disease in 54 countries. [2] It is most common in tropical Africa and Asia. [2] Lymphatic filariasis is classified as a neglected tropical disease and one of the four main worm infections . [7] The impact of the disease results in economic losses of billions of dollars a year. [2] Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 4 Prevention 5 Treatment 5.1 Anthelmintic 5.2 Antibiotics 5.3 Vaccine 5.4 Supportive treatments 6 Epidemiology 7 History 8 Research directions 9 References 10 External links Signs and symptoms [ edit ] The most spectacular symptom of lymphatic filariasis is elephantiasis , a stage 3 lymphedema with thickening of the skin and underlying tissues. ... Avoiding mosquito bites, such as by using insecticide -treated mosquito bed nets , also reduces the transmission of lymphatic filariasis. [19] [22] The Carter Center 's International Task Force for Disease Eradication declared lymphatic filariasis one of six potentially eradicable diseases. [19] According to medical experts, the worldwide effort to eliminate lymphatic filariasis is on track to potentially succeed by 2020. [23] For similar-looking but causally unrelated podoconiosis , international awareness of the disease will have to increase before elimination is possible. ... This list is constantly updates and adds on the China and South Korea that were among the first countries to eliminate LF, according to the WHO. [35] History [ edit ] A man in Japan is helped to carry his enlarged scrotum Lymphatic filariasis is thought to have affected humans for about 4000 years. [36] Artifacts from ancient Egypt (2000 BC) and the Nok civilization in West Africa (500 BC) show possible elephantiasis symptoms.

GPT2, THAS, IL10, HSPD1, TLR9, TLR2, LMLN, GGTLC1, TMPRSS13, NARS2, RBM33, TLR1, HSPA14, NBEAL2, HERPUD1, NR0B2, VEGFA, TXN, TNFRSF1B, TLR4, CISH, CTLA4, MSMB, EDN1, FOXC2, FLT4, HGF, IGHG3, IL3, MST1, TGFB1, NARS1, PRL, PTEN, PTPN6, SLA, SMS, LOC102724197
- Lymphatic Filariasis GARD
  
  Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system , which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. A small percentage of people develop lymphedema , which may affect the legs, arms, breasts, and genitalia; bacterial infections that cause hardening and thickening of the skin, called elephantiasis; hydrocele (swelling of the scrotum) in men; and pulmonary tropical eosinophilia syndrome . Treatment may include a yearly dose of medicine, called diethylcarbamazine (DEC); while this drug does not kill all of the adult worms, it prevents infected people from giving the disease to someone else.
- Lymphatic Filariasis Orphanet
  
  Lymphatic filariasis (LF) is a severe form of filariasis (see this term), caused by the parasitic worms Wuchereria bancrofti , Brugia malayi and Brugia timori , and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported.
Prolidase Deficiency Wikipedia

"Prolidase Deficiency" (PDF) . Orpha Net . Retrieved 2012-11-30 . ^ a b c d e f "Prolidase Deficiency" . ... External links [ edit ] Classification D ICD - 10 : E72.8 OMIM : 170100 MeSH : D056732 DiseasesDB : 29838 External resources Orphanet : 742 Prolidase deficiency on OrphaNet v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria

PEPD, CFTR
- Prolidase Deficiency GeneReviews
  
  Summary Clinical characteristics. Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic facial features, variable intellectual disability, and hepatomegaly with elevated liver enzymes and splenomegaly. Anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are common. An association between systemic lupus erythematosus (SLE) and prolidase deficiency has been described. Diagnosis/testing. The diagnosis of prolidase deficiency is established by detection of either biallelic PEPD pathogenic variants or reduced prolidase enzyme activity in a proband who has characteristic clinical findings and imidodipeptiduria. Management. Treatment of manifestations: No curative treatment is available.
- Prolidase Deficiency MedlinePlus
  
  Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may also occur. People with prolidase deficiency are susceptible to severe infections of the skin or ears, or potentially life-threatening respiratory tract infections. Some individuals with prolidase deficiency have chronic lung disease. Characteristic facial features in people with prolidase deficiency include prominent eyes that are widely spaced (hypertelorism), a high forehead, a flat bridge of the nose, and a very small lower jaw and chin (micrognathia).
- Prolidase Deficiency GARD
  
  Prolidase deficiency is a rare metabolic condition characterized by skin lesions, recurrent infections, unusual facial features, variable intellectual disability, enlargement of the liver ( hepatomegaly ) with elevated liver enzymes, and enlargement of the spleen ( splenomegaly ). Symptoms typically present during infancy and vary greatly among affected individuals. The condition is caused by mutations in the PEPD gene. It is inherited in an autosomal recessive pattern. Treatment for prolidase deficiency is symptomatic and supportive and often requires the expertise of a multidisciplinary team.
- Prolidase Deficiency Orphanet
  
  Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. Epidemiology The exact prevalence is unknown but a prevalence estimate of 1/1,235,000 live births has been suggested. A higher carrier frequency of 1/21 has been reported in the Druze community. Approximately 90 patients from different ethnic groups have been reported in the literature to date, but due to underdiagnosis the exact number is probably higher. Clinical description Clinical manifestations and age of onset are quite variable.
- Prolidase Deficiency OMIM
  
  A number sign (#) is used with this entry because prolidase deficiency is caused by homozygous or compound heterozygous mutation in the PEPD gene (613230) on chromosome 19q13. Description Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectases with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common.
Ophthalmia Wikipedia

Due to the ophthalmia, and his absence from the first battle, he was not buried with proper funeral rites of a Spartan captain. [2] Cicero, on 1 March 49 BC wrote to Atticus that he was suffering from ophthalmia. [3] Eratosthenes , who among other things was a Greek geographer and mathematician, contracted ophthalmia as he aged, becoming blind around 195 BC, depressing him and causing him to voluntarily starve himself to death. He died in 194 BC at the age of 82. [4] Hannibal 's sight was lost in his right eye in 217 BC by what was likely ophthalmia.

TNF, FAS, IFNG, IL1B, SLPI, VEGFA, PRF1, TLR4, TLR2, CCL18, MYD88, HMGB1, INSRR, IL10, IL6, PER2, EFS, CUL9, NTM, CARD9, TRIM69, TICAM1
- Endophthalmitis Wikipedia
  
  Endophthalmitis Hypopyon with hazy media Specialty Ophthalmology Endophthalmitis is inflammation of the interior cavity of the eye , usually caused by infection. It is a possible complication of all intraocular surgeries , particularly cataract surgery , and can result in loss of vision or loss of the eye itself. Infection can be caused by bacteria or fungi, and is classified as exogenous (infection introduced by direct inoculation as in surgery or penetrating trauma), or endogenous (organisms carried by blood vessels to the eye from another site of infection). Other non-infectious causes include toxins, allergic reaction, and retained intraocular foreign bodies. Intravitreal injections are a rare cause, with an incidence rate usually less than .05%.
- Endophthalmitis Orphanet
  
  A rare ophthalmic disorder characterized by inflammation involving the vitreous and/or aqueous humors, usually due to bacterial or fungal infection. It may arise endogenously from hematogenous spread of the infectious agent, or exogenously after direct inoculation, and can take an acute or chronic course. Clinical signs and symptoms include progressive vitritis, hypopyon, reduced or blurred vision, red eye, pain, and lid swelling. The condition may be complicated by panophthalmitis, corneal infiltration and perforation, affection of orbital structures, and phthisis bulbi.
Ischiopatellar Dysplasia Wikipedia

. ^ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. ... J Bone Joint Surg Br. 1979;61:172–175. ^ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. ... Am J Med Genet. 1995;57:558–561. ^ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. ... Z Orthop 1988;126:22–29. ^ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. ... J Bone Joint Surg Br. 1979;61:172–175. ^ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H.

TBX4, GP6, SMS, GAS6, PDSS1, SEPHS1, SOX9, PEAR1, POU2F3, NOL3, PLA2G6, SERPINC1, BDNF, PNOC, PLG, PLA2G2A, PLA2G1B, OPRL1, ATXN3, GAD2, PGR-AS1
- Coxopodopatellar Syndrome Orphanet
  
  Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Epidemiology Less that 50 patients have been reported worldwide. Clinical description The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies (a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus). Craniofacial anomalies (micrognathia, cleft palate, flattened nose and prominent forehead) have been reported occasionally. Intrafamilial variability of the patellar, pelvic and foot anomalies has been described.
- Small Patella Syndrome GARD
  
  Small patella syndrome (SPS) is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all ( aplastic ). The hip (pelvic) bones may be weak, and the bones of the feet may not have formed correctly. Occasionally, bones in the face may also be affected. Small patella syndrome is caused by a change (pathogenic variant or mutation) in the TBX4 gene. The syndrome is inherited in an autosomal dominant manner. Diagnosis of the syndrome is suspected based on features that can be seen in a physical exam and on imaging tests such as X-rays.
- Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension OMIM
  
  A number sign (#) is used with this entry because ischiocoxopodopatellar syndrome (ICPPS), also known as small patella syndrome, is caused by heterozygous mutation in the TBX4 gene (601719) on chromosome 17q23. Description Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016).
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.
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.
Sneddon Syndrome GARD

It is primarily characterized by livedo reticularis (net-like patterns of discoloration on the skin) and neurological abnormalities.

ADA2, ADA, ARSA
- Sneddon Syndrome OMIM
  
  A number sign (#) is used with this entry because of evidence that Sneddon syndrome (SNDNS) is caused by compound heterozygous mutation in the CECR1 gene (ADA2; 607575) on chromosome 22q11. One such family has been reported. Mutation in the ADA2 gene can also cause vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS; 615688), which shows earlier onset. Description Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987). Clinical Features Sneddon (1965) described 6 patients (5 females, 1 male), varying in age from 20 to 48 years, who had association of livedo reticularis with cerebrovascular accident.
- Sneddon's Syndrome Wikipedia
  
  Sneddon syndrome Other names Ehrmann-Sneddon syndrome, Livedo racemosa-cerebrovascular accident syndrome, Livedo reticularis-cerebrovascular accident syndrome [1] This condition is inherited in an autosomal recessive manner [2] Specialty Rheumatology Sneddon's syndrome [1] is a form of arteriopathy characterized by several symptoms, including: Severe, transient neurological symptoms or stroke Livedo reticularis , or livedo racemosa Contents 1 Signs and symptoms 2 Pathogenesis 3 Diagnosis 4 Treatment 5 Epidemiology 6 History 7 See also 8 References 9 Further reading 10 External links Signs and symptoms [ edit ] Sneddon's syndrome generally manifests with stroke or severe, transient neurological symptoms, and a skin rash ( livedo reticularis ). Livedo reticularis appears as a bluish-purple, netlike mottling of the skin. Sneddon's syndrome may instead present with livedo racemosa , which involves larger, less organized patches of bluish-purple mottling of the skin. Both are generally found first in the extremities, both worsen in cold and either may occur without Sneddon's Syndrome or any other systemic disease. [ citation needed ] Sneddon's Syndrome can be characterized by: transient amnesia , transient aphasia , palsy , headaches , hypertension, transient ischemic attacks (TIA), stroke , [3] coronary disease and dementia. [4] The skin manifestations may precede the neurologic symptoms by years. [3] Pathogenesis [ edit ] Sneddon's syndrome is a progressive, noninflammatory arteriopathy leading to the characteristic skin condition and to cerebrovascular problems, including stroke, transient ischemic attack (TIA), severe but transient neurological symptoms thought to be caused by cerebral vasospasm, coronary disease and early-onset dementia. Progressive compromise of arterial linings in Sneddon's produces clotting, for which high-dose warfarin is most commonly prescribed, and can also cause the development of systemic arterial plaque when cholesterol levels are normal. [ citation needed ] Diagnosis [ edit ] There are no diagnostic tests on which all Sneddon's patients will have abnormal results, although brain MRI and skin biopsy are often abnormal.
- Adenosine Deaminase 2 Deficiency MedlinePlus
  
  Signs and symptoms that can occur with ADA2 deficiency include fevers that are intermittent, meaning they come and go; areas of net-like, mottled skin discoloration called livedo racemosa; an enlarged liver and spleen (hepatosplenomegaly); and recurrent strokes affecting structures deep in the brain that can start in the first few years of life.
- Sneddon Syndrome Orphanet
  
  Clinical description The mean age of onset of neurological symptoms is 39 years, though the livedo is generally observed up to 10 years earlier and sometimes since childhood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting primarily the legs and arms, but also involving the buttocks and the trunk, and that is exacerbated by cold or pregnancy.