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Malignant Rhabdoid Tumour Wikipedia

"Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor" (abstract page) . Genes Chromosomes Cancer . 28 (1): 31–7. doi : 10.1002/(SICI)1098-2264(200005)28:1<31::AID-GCC4>3.0.CO;2-Y .

SMARCB1, PGBD5, SMARCA1, SMARCA4, EZH2, CDKN2A, EGFR, BRD9, CCND1, TP53, MDM2, VIM, DNER, PIK3CD, MDM4, STIM1, PLK4, CLDN6, CIC, PROM1, BRD4, PIK3CA, CDKN1A, PIK3CB, PIK3CG, BCOR, MYC, BCR, CDK4, RAB36, TAGLN, SYP, BANF1, WT2, TGFA, VCL, AIFM1, TLE1, ACTB, CROCC, LIN28A, HOTAIR, KRT8P3, MIR206, MIR200C, MIR193A, NUTM1, DMBX1, PHF5A, MIB1, MELK, SLC12A9, FXYD5, DCDC2, RSPH14, CNTNAP2, SMUG1, SPP1, RASSF1, CRTC1, PTK7, SMARCA2, CDKN2B, EWSR1, EGF, E2F1, CTNNB1, CRYBB2, CRX, CLDN4, CNN1, CDKN1C, RPL10, CDK9, CD6, XIAP, BIRC3, BIRC2, ANGPT1, BIN1, ALK, GPC3, HPR, IGF1, IGF2, RPL5, RHD, PTPN11, AKT1, PTGS2, PMAIP1, PLK1, SERPINE1, NSF, NPM1, NFATC2, MYF5, MKI67, MCAM, KRT8, KCNQ1, KCNMA1, DUX4

Rhabdoid Tumor Predisposition Syndrome 2 Omim

Longy et al. (1996) reported a family in which 3 sisters developed SCCOHT between ages 14 and 28 years. Despite treatment, each had an aggressive tumor with recurrence that resulted in death within several months.
Rhabdoid Tumor Orphanet

Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term). Epidemiology The United Kingdom registry estimated that the age-standardized annual incidence of extra-CNS RT is about 1/2,000,000 children, which might be underestimated. Altogether, in infants less than one year, RT may account for 20% of renal cancers, and 15% of soft-part tumors. In the same age range, ATRT may be the most frequent malignant tumor of the posterior fossa.
Rhabdoid Tumor Gard

Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdominal mass, peripheral nerve palsy). In about 90% of cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene. In rare cases, it may be caused by a mutation in the SMARCA4 gene . No standard care exists for RT, although there are many ongoing studies.
Rhabdoid Tumor Predisposition Syndrome 1 Omim

A number sign (#) is used with this entry because rhabdoid tumor predisposition syndrome-1 (RTPS1) is caused by heterozygous germline mutation in the SMARCB1 gene (601607) on chromosome 22q11. Somatic mutations in the SMARCB1 gene are also found in atypical teratoid and rhabdoid (AT/RT) tumors. Description The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999). Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978).

Clitoromegaly Wikipedia

Archived from the original on 2008-05-09 . Retrieved 2008-09-28 . ^ Beischer NA, Cookson T, Sheedy M, Wein P (August 1992). ... "Polycystic Ovarian Syndrome" . Retrieved 2008-09-28 . ^ Horejsí J (June 1997). "Acquired clitoral enlargement.

SRY, NR5A1, NR0B1, BSCL2, CDC45, PEX3, CDK13, PEX11B, PEX16, FIG4, CD96, TRAIP, AGPAT2, ZFPM2, KAT6B, ORC6, GMNN, TALDO1, WWOX, NDUFB11, PEX26, VAC14, DMRT3, FRAS1, CDT1, UBE3B, CCNQ, TOE1, ESCO2, UBR1, RSPO1, WT1, VAMP7, ATIC, MAP3K1, ATR, CDC6, COX7B, CYP11A1, CYP11B1, DHCR7, FGFR2, GATA4, HCCS, HSD3B2, SOX9, INSR, ORC1, ORC4, PEX1, PEX6, PEX10, PEX12, PEX13, PEX14, POR, PEX19, PEX2, PEX5, HSD17B3, SPATA7, CYP21A2, HSD11B1L

Extrapyramidal Symptoms Wikipedia

"Extrapyramidal symptoms with atypical antipsychotics: incidence, prevention and management" . Drug Safety . 28 (3): 191–208. doi : 10.2165/00002018-200528030-00002 . ... "Basal Ganglia Injury With Extrapyramidal Presentation: A Complication of Meningococcal Meningitis". J Child Neurol . 28 (11): 1489–1492. doi : 10.1177/0883073812457463 .

NUS1, SLC6A3, PSEN1, C9orf72, L2HGDH, CLN6, VCP, TERF2IP, TERT, TMEM106B, ATXN7, ATXN1, NDUFAF5, CLIP2, RARS1, HTRA1, TBC1D24, PLP1, SERPINI1, PRDX1, NOTCH3, RFC2, XPA, TBL2, SPG21, MMACHC, POT1, ATXN10, FBXO7, ZFYVE26, ETHE1, UQCRQ, TREX1, MICU1, XPC, ACTL6B, GTF2IRD1, LIPT1, TREM2, BAZ1B, SQSTM1, CTSF, BAP1, ACD, CHMP2B, ALG13, DDB2, ERCC5, ERCC4, ERCC3, ERCC2, ELN, TMEM240, NDUFS7, BOLA3, GCDH, CYP27A1, CP, LYST, CDKN2B, CDKN2A, CDK4, SNORD118, NDUFA1, GBE1, SERAC1, MITF, MGMT, ATXN3, MC1R, NAGA, MAPT, GRN, DCAF17, CTC1, LIMK1, OPA3, CLPB, HPRT1, GTF2I, CYP2D6, PRL, DRD2, APOE, PANK2, COMT, TBK1, ALB, ATXN2, TARDBP, MAOA, ATP7B, ACE, DRD1, DRD3, FOSB, GH1, GNB1, HTR2A, IGF1, CYP4F3, LY6E, MAOB, WDR45, NEFM, NEFH, NEFL, PRNP, RGS2, SLC16A2, TNF, INA, PPIG, TSHZ1, DEAF1, LOC107987479

"Birth Trauma: In the Eye of the Beholder". Nursing Research . 53 (1): 28–35. doi : 10.1097/00006199-200401000-00005 . ... "Birth trauma: in the eye of the beholder". Nursing Research . 53 (1): 28–35. doi : 10.1097/00006199-200401000-00005 .

Treatment Of Infections After Exposure To Ionizing Radiation Wikipedia

Antimicrobial Therapy for Sepsis after Irradiation (Duration 21–28 days) • Quinolones , 2nd or 3rd generation – Ciprofloxacin (2nd) or Levofloxacin (3rd) • Cephalosporins , 3rd or 4th generation – Ceftriaxone (3rd) or Cefepime (4th) • Aminoglycosides – Gentamicin or Amikacin • ± Amoxicillin or Vancomycin • ± Amphotericin B (persistent fever 7 days on Rx) The use of these agents should be considered in individuals exposed to doses above 1.5 Gy , should be given to those who develop fever and neutropenia and should be administered within 48 hours of exposure. ... Therapy may need to be continued for at least 21–28 days or until the risk of infection has declined because of recovery of the immune system.

Alcoholic Ketoacidosis Wikipedia

The American Journal of Medicine . 91 (2): 119–28. doi : 10.1016/0002-9343(91)90003-g . ... "Toxigenic and Metabolic Causes of Ketosis and Ketoacidotic Syndromes". Critical Care Clinics . 28 (4): 601–631. doi : 10.1016/j.ccc.2012.07.001 .

ALB

Scarf Syndrome Wikipedia

References [ edit ] ^ "SCARF syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . Retrieved 28 June 2019 . ^ "Scarf Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials" . www.malacards.org . ... ISSN 1096-8628 . ^ a b c d e f Purohit, Maulik (2018-04-28). "SCARF Syndrome" . www.dovemed.com .

Scarf Syndrome Omim

Koppe et al. (1989) described 2 male maternal first cousins with an apparently 'new' syndrome including lax skin, joint hyperextensibility, umbilical and inguinal hernias, craniosynostosis, pectus carinatum, abnormally shaped vertebrae, enamel hypoplasia with hypocalcification of the teeth, facial abnormalities, wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation. Some of the features suggest those of the Lenz-Majewski hyperostotic dwarfism syndrome (151050). INHERITANCE - X-linked recessive HEAD & NECK Face - Small chin - Long philtrum Ears - Low-set ears - Posteriorly rotated ears Eyes - Ptosis - Epicanthal folds - Downslanting palpebral fissure - Strabismus Nose - High, broad nasal root Teeth - Enamel hypoplasia Neck - Excess nuchal skin - Neck webs - Short neck CHEST External Features - Barrel-shaped chest Ribs Sternum Clavicles & Scapulae - Short sternum - Pectus carinatum Breasts - Widely spaced nipples - Hypoplastic nipples ABDOMEN External Features - Diastasis recti - Umbilical hernia GENITOURINARY External Genitalia (Male) - Micropenis - Perineal hypospadias - Inguinal hernia - Bifid scrotum Internal Genitalia (Male) - Cryptorchidism SKELETAL Skull - Craniosynostosis (lambdoid and coronal sutures) Spine - Abnormally-shaped vertebrae SKIN, NAILS, & HAIR Skin - Cutis laxa Hair - Multiple hair whorls - Sparse hair - Low anterior hairline - Low posterior hairline NEUROLOGIC Central Nervous System - Mental retardation, mild to moderate MISCELLANEOUS - SCARF is an acronym - Skeletal abnormalities, Cutis laxa/craniosynostosis, Ambiguous genitalia, Retardation, and Facial abnormalities ▲ Close
Scarf Syndrome Orphanet

A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.

Congenital Rubella Syndrome Wikipedia

Find sources: "Congenital rubella syndrome" – news · newspapers · books · scholar · JSTOR ( December 2007 ) ( Learn how and when to remove this template message ) Congenital rubella syndrome White pupils due to congenital cataracts in a child with congenital rubella syndrome Specialty Teratology Congenital rubella syndrome ( CRS ) can occur in a developing fetus of a pregnant woman who has contracted rubella , usually in the first trimester. If infection occurs 0–28 days before conception, the infant has a 43% risk of being affected. ... It was discovered in 1941 by Australian Norman McAlister Gregg . [1] Contents 1 Signs and symptoms 2 Prevention 3 References 4 External links Signs and symptoms [ edit ] Infant with skin lesions from congenital rubella "Salt-and-pepper" retinopathy is characteristic of congenital rubella. [2] Congenital rubella serology time-line The classic triad for congenital rubella syndrome is: [3] Sensorineural deafness (58% of patients) Eye abnormalities—especially retinopathy , cataract , glaucoma , and microphthalmia (43% of patients) Congenital heart disease —especially pulmonary artery stenosis and patent ductus arteriosus (50% of patients) [4] Other manifestations of CRS may include: Spleen , liver , or bone marrow problems (some of which may disappear shortly after birth) Intellectual disability Small head size ( microcephaly ) Low birth weight [5] Thrombocytopenic purpura Extramedullary hematopoiesis (presents as a characteristic blueberry muffin rash ) Enlarged liver Small jaw size Skin lesions [5] Children who have been exposed to rubella in the womb should also be watched closely as they age for any indication of: Developmental delay [5] Autism [6] Schizophrenia [7] Growth retardation [8] Learning disabilities Diabetes mellitus [9] Prevention [ edit ] Vaccinating the majority of the population is effective at preventing congenital rubella syndrome. [10] For women who plan to become pregnant, the MMR (measles mumps, rubella) vaccination is highly recommended, at least 28 days prior to conception. [5] The vaccine should not be given to women who are already pregnant as it contains live viral particles. [5] Other preventative actions can include the screening and vaccinations of high-risk personnel, such as medical and child care professions. [11] References [ edit ] ^ Atkinson, William (2011).

CD40LG, GAD2, MRC1

Congenital Rubella Gard

Congenital rubella refers to the group of birth defects that occur in an infant whose mother is infected with the virus that causes German measles (rubella) during pregnancy. Congenital rubella occurs when the rubella virus in the mother affects the developing baby in the first 3 months of pregnancy. After the fourth month, if the mother has a rubella infection, it is less likely to harm the developing baby. The most common problems are hearing loss due to damage to the nerve pathways from the inner ear to the brain (sensorineural hearing loss), ocular abnormalities (cataract, infantile glaucoma, and pigmentary retinopathy ) and heart problems. Other symptoms and signs may include intrauterine growth retardation, prematurity , stillbirth, miscarriage, neurological problems (intellectual disability, low muscle tone, very small head), liver and spleen enlargement (hepatosplenomegaly), jaundice, skin problems, anemia, hormonal problems, and other issues.
Congenital Rubella Syndrome Orphanet

An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. Epidemiology Congenital rubella syndrome (CRS) has been reported to affect an estimated 100,000 infants each year, mainly in developing countries. Clinical description Acquired during the first 8-12 weeks of gestation, rubella infection may cause multiple fetal defects (up to 90% of cases) including neurological (microcephaly), ophthalmic (cataracts, microphthalmia, glaucoma, pigmentary retinopathy, chorioretinitis), auditory (sensorineural deafness), cardiac (peripheral pulmonary artery stenosis, patent ductus arteriosus or ventricular septal defects, etc) defects and fetal wastage or stillbirth. Infection occurring later in gestation is associated with a decline in the risk of birth defects.

Intermittent Claudication Wikipedia

The British Journal of Surgery . 99 (1): 16–28. doi : 10.1002/bjs.7656 . PMID 21928409 . ^ Lane, Risha; Harwood, Amy; Watson, Lorna; Leng, Gillian C. (26 December 2017). ... VascularSurgery . ^ National Institute for Health and Care Excellence, (Published date: 25 May 2011). " " Cilostazol, naftidrofuryl oxalate, pentoxifylline and inositol nicotinate for the treatment of intermittent claudication in people with peripheral arterial disease " " . Retrieved July 28, 2016 . ^ Fowkes, F G R.; Housley, E.; Cawood, E H H.; MacIntyre, C C A.; Ruckley, C.

EPAS1, MDM2, BAD, BAK1, BAX, CASP3, EIF3E, SIRT2, BBC3, LMNA, MPL, JAK2, ZMPSTE24, TET2, XYLT2, XYLT1, AGXT, ABCC6, VEGFA, IL6, TNF, PADI4, CRP, DHX40, GSTK1, TIMP2, BCAR1, AGXT2, CACNA1G-AS1, SLCO6A1, NLRP1, RBM45, UGT1A1, ANGPTL6, FURIN, SERPINE1, ACR, NHS, FGF2, ALDH7A1, COL2A1, COX8A, VCAN, ACE, ENG, ESR1, F5, F8, FGF13, NFE2L2, GABPA, HIF1A, HLA-A, HLA-DRB1, HMGB1, KLRB1, ADRB2, LPA, MTHFR, C20orf181

Perlman Syndrome Omim

A previous pregnancy resulted in an infant who rapidly expired after birth and probably had the same syndrome. Alessandri et al. (2008) reviewed 28 patients with typical Perlman syndrome and concluded that there is a high neonatal mortality rate. ... Mapping In a consanguineous Pakistani kindred with Perlman syndrome, in which mutation in the IGF2 (147470) and IGF2R (147280) candidate genes had been excluded, Astuti et al. (2012) performed autozygosity mapping by genomewide SNP genotyping and identified 8 regions of extended homozygosity, including a 43-cM (28-Mb) region on chromosome 2q. Analysis of 3 affected individuals from 2 potentially consanguineous Dutch kindreds with Perlman syndrome, previously reported by Henneveld et al. (1999), confirmed the autozygous region at 2q37 and narrowed it to a 4.8-cM (2.1-Mb) interval between rs1992188 and rs1104953.

DIS3L2, DNMT3B, GPC4, GPC3, DIS3, TUT4, TUT7

Perlman Syndrome Orphanet

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. Epidemiology So far, about 30 patients have been reported in the literature. Clinical description The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip, and mild micrognathia. Agenesis of the corpus callosum, choroid plexus haemangiomas, cleft palate, dextroposition of the heart, interrupted aortic arch, diaphragmatic hernia, visceromegaly including nephromegaly, hepatomegaly, cardiomegaly, thymus hyperplasia, hepatic fibrosis with porto-portal bridging, abdominal muscular hypoplasia, distal ileal atresia, and cryptorchidism were also described in some patients and maybe components of this syndrome. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death.
Perlman Syndrome Wikipedia

Perlman syndrome Other names Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome Perlman syndrome has an autosomal recessive pattern of inheritance. Specialty Oncology Perlman syndrome ( PS ) (also called renal hamartomas , nephroblastomatosis and fetal gigantism ) is a rare overgrowth disorder present at birth. It is characterized by polyhydramnios and fetal overgrowth, including macrocephaly , neonatal macrosomia , visceromegaly , dysmorphic facial features, and an increased risk for Wilms' tumor at an early age. The prognosis for Perlman syndrome is poor and it is associated with a high neonatal mortality . Perlman syndrome is an uncommon genetic disorder grouped with overgrowth syndrome in which an abnormal increase is often noted at birth in the size of the body or a body part of the infant.
Perlman Syndrome Gard

Perlman syndrome causes overgrowth in infancy and affects many different parts of the body. Babies with Perlman syndrome are bigger than most babies and have large heads, kidneys, and livers. In addition, they may have low muscle tone, distinctive facial features, and developmental delay. Over time, people with Perlman syndrome have an increased chance to develop Wilms tumor , a rare kidney cancer that primarily affects children. Perlman syndrome is caused by genetic changes (variants) in the DIS3L2 gene.

Cyclopia Wikipedia

It was not clear whether it was a boy or a girl, but it was believed to be the former. [12] A Swedish description from 1793 of a newborn with cyclopia On December 28, 2005, a kitten with cyclopia, "Cy", was born in Redmond , Oregon , United States and died about one day after birth. [13] In 2006, a baby girl in India with cyclopia was born. ... Retrieved 2014-03-07 . ^ "Cyclops Baby" . Oddee. 2008-02-28 . Retrieved 1 October 2012 . ^ "Cyclops Baby Born in India Only Survives 1 Day" .

SHH, TBC1D20, RAB18, SIX3, FOXH1, ZIC2, TGIF1, TDGF1, DLL1, FGF8, CDON, SUFU, PTCH1, PRRX1, OTX2, NODAL, DISP1, GLI2, GAS1, FGFR1, CDCA7L, GRHL3, EDDM3B, EDDM3A, AIRE, BCAR3, TSC1, SOX11, RTN2, PWP2, PITX2, SMAD2, LSS, HPE1, SLC20A2

Ketoacidosis Wikipedia

This allows children and infants to easily produce ketones and although rare, can progress to ketoacidosis in acute illness. [9] See also [ edit ] Alcoholic ketoacidosis Diabetic ketoacidosis Ketosis Kussmaul breathing Metabolic acidosis Type I diabetes References [ edit ] ^ a b c d e Misra, Shivani; Oliver, Nick S (2015-10-28). "Diabetic ketoacidosis in adults". ... "Toxigenic and Metabolic Causes of Ketosis and Ketoacidotic Syndromes". Critical Care Clinics . 28 (4): 601–631. doi : 10.1016/j.ccc.2012.07.001 . ^ a b c Owen, Oliver E.; Caprio, Sonia; Reichard, George A.; Mozzoli, Maria A.; Boden, Guenther; Owen, Rodney S.

ACAT1

Platelet Storage Pool Deficiency Wikipedia

SNARE accessory proteins control the secretion of α–granule. [5] Diagnosis [ edit ] The diagnosis of this condition can be done via the following: [1] Flow cytometry Bleeding time analysis Types [ edit ] This condition may involve the alpha granules or the dense granules. [6] Therefore the following examples include: Flow cytometry analysis Platelet alpha-granules Gray platelet syndrome [7] Quebec platelet disorder [8] Dense granules δ-Storage pool deficiency [9] Hermansky–Pudlak syndrome [10] Chédiak–Higashi syndrome [11] Treatment [ edit ] Platelet storage pool deficiency has no treatment however management consists of antifibrinolytic medications if the individual has unusual bleeding event, additionally caution should be taken with usage of NSAIDS [1] [2] See also [ edit ] Hypocoagulability Hypercoagulability References [ edit ] ^ a b c d e f g h i j "Platelet storage pool deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . Retrieved 2017-10-28 . ^ a b Kirchmaier, Carl Maximilian; Pillitteri, Daniele (October 2010). ... "Genetics - Genetic inheritance - NHS Choices" . www.nhs.uk . Retrieved 28 October 2017 . ^ a b Blair, Price; Flaumenhaft, Robert (2009).

GFI1B, BLOC1S6, AP3D1, DTNBP1, HPS1, RAB27A, RAB27B, AP3B1, HPS5, DOCK7, HPS3, BLOC1S5, SLC7A11, HPS4, LYST, HOXD13, RUNX1, ABCC4, PRDX5, TFF1, F10, CSF3

Storage Pool Platelet Disease Omim

Platelet storage pool deficiencies (SPD) comprise a range of disorders encompassing variable degrees of reduction in the numbers and contents of dense granules (delta-granules), alpha-granules, or both (Weiss et al., 1979). In addition to the more frequently occurring disorders of dense granules only (delta-SPD), 2 disorders involving alpha-granule deficiencies have been characterized: alpha/delta-SPD, which includes patients with marked deficiencies of dense granules as well as more variable deficiencies of alpha-granules; and alpha-SPD, or the gray platelet syndrome (139090), in which severe reductions occur only in the alpha-granules and their contents. Both disorders are associated with impaired platelet function as indicated by decreased aggregation responses. Weiss et al. (1969) described a kindred in which 10 members in 4 generations had a bleeding diathesis. There were several instances of male-to-male transmission. Six of the affected members were studied and found to have impaired release of platelet adenosine diphosphate (ADP).
Alpha Delta Granule Deficiency Orphanet

A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.
Platelet Storage Pool Deficiency Gard

Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic).

Neurodegeneration With Brain Iron Accumulation Wikipedia

Retrieved 2018-05-13 . ^ Gregory A, Hayflick S (28 February 2013). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). ... PMID 28211668 . ^ Kruer MC, Gregory A, Hayflick SJ (28 Jun 2011). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.).

WDR45, PANK2, C19orf12, PLA2G6, PLB1, FA2H, YWHAZ, PLA2G1B, ATP13A2, FTL, COASY, SOD1, DCAF17, PANK1, FBXO7, CRAT, CP, C9orf72, GLB1, F5, RAB39B, SLC52A3, REPS1, FXN, DDHD1, GCH1, GFER, GJA1, SPARC, TFRC, IGFALS, PRKN, PLA2G4A, PRPS1, SPAG9, PRKRA, SGSH, SLC6A3, HSP90B2P, PINK1

Neurodegeneration With Brain Iron Accumulation Gard

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia. Symptoms include progressive dystonia (a movement disorder resulting in muscular spasms, twisting, and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), inability to coordinate movements (ataxia), neuropsychiatric abnormalities (confusion, disorientation, seizures, stupor, dementia), and eye problems, such as optic atrophy or retinal degeneration. The age of onset ranges from infancy to late adulthood, and the rate of progression varies. Some subtypes have cognitive decline. Cerebellar atrophy is common in many cases. There are ten recognized types of NBIA, classified according to the altered gene that causes the disease.
Neurodegeneration With Brain Iron Accumulation Orphanet

Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. Epidemiology An estimated prevalence of 1-3/1,000,000 has been suggested based on observed cases in a population. The most common form of NBIA is pantothenate kinase-associated neurodegeneration (PKAN; see this term), which accounts for approximately 50% of cases. Clinical description NBIA can present as early onset with rapid progression: classic pantothenate kinase-associated neurodegeneration (PKAN), infantile neuroaxonal dystrophy (INAD) and atypical neuroaxonal dystrophy (atypical NAD) (see these terms); or later onset with slower progression: atypical PKAN, neuroferritinopathy and aceruloplasminemia (see these terms). Idiopathic NBIA can have either type of onset and progression. Etiology Classic and atypical PKAN are caused by mutations in the PANK2 gene (20p13-p12.3), infantile and atypical neuroaxonal dystrophy are caused by mutation in the PLA2G6 gene (22q13.1), aceruloplasminemia is caused by mutation of the ceruloplasmin ( CP ) gene (3q23-q24) and neuroferritinopathy is caused by mutations in the ferritin light chain ( FTL1 ) gene (19q13.3-q13.4).

Glioma Susceptibility 7 Omim

After stratifying by histologic and tumor genetic subtype, the most significant associations of rs55705857 were with oligodendroglial tumors (OR = 6.3, p = 2.2 x 10(-28)) and gliomas with mutant IDH1 (147700) (OR = 5.1, p = 1.1 x 10(-31)) or IDH2 (147650) (OR = 4.8, p = 6.6 x 10(-22)).

TP53, IDH1, CDKN2B, PTEN, NBN, SPP1, BRAF, ATM, CDKN2A, NF1, HRAS, RTEL1, CCDC26, ACVR1, EGFR, PHLDB1, MGMT, MDM2, GDNF, ATRX, PTGS2, BMI1, TNFSF10, CHI3L1, XRCC1, H3-3A, TNF, ERBB2, FGF2, PIK3CA, TERT, GSTP1, SLC5A5, ROS1, RAF1, PLK1, HLA-C, FBXW7, STMN1, TOP2A, POT1, TFRC, KLF6, CLCN3, MDK, FGFR1, NTRK1, CIC, SOD1, CAT, XBP1, HLA-A, HLA-B, MYB, PPM1D, ATP1B2, FUBP1, APC, CDKN2C, MSH2, PIK3R1, ALK, HMGN5, H3C2, NTRK3, DMBT1, APOD, CLCN2, FTH1, ATR, PMS2, SUZ12, QKI, GJA1, DMXL1, PSD3, IFNG, NTRK2, CCR4, MET, IL12A, IL12B, FAM107A, XAF1, BRCA2, MYLK, MYBL1, CTSB, STAG2, TNC, MMP2, TRIM29, CLCN5, BCAN, AKT2, BIRC5, HMGB1, ANGPT2, CAV1, SPHK1, BAD, EPOR, SIRT2, CSF1, CXCR3, LGALS3, MKI67, CD80, ST6GAL1, YEATS4, IL7, AREG, F2, SH3GL1, SLC6A3, MDM4, CAV2, ATG7, PCMT1, BDKRB2, LRIG1, CDKN2B-AS1, RAB27A, ETFA, VTI1A, CHEK2, STN1, AKAP6, AKT3, STK38L, SMYD3, TREH, MAML2, GLI3, C2orf80, SLC16A8, HIF1A, GDE1, ZBTB16, EPHB2, LRP5, ABCB1, MALAT1, ERCC1, ERCC2, CXCR4, IDH2, DBT, HGF, PDGFRA, CD44, TRAF5, NRP1, NFE2L2, EZH2, PIK3CB, MTDH, PIK3CD, SERPINE1, EGF, OLIG2, MIR155, SLC25A24, TNFRSF12A, VEGFA, E2F1, MMP9, PLAU, MIR145, POLR2A, MIR21, ACOT11, PKM, MAPK14, DNMT1, XRCC3, GSC, CD274, YAP1, PIK3CG, POU5F1, MIR221, PCNA, CDK4, CDK2, CTNNB1, MCL1, NOTCH1, HPGDS, MIR182, GOLGA3, MAPK1, BDNF, TBC1D9, SPARC, MTOR, KDR, LGI1, FAS, AQP4, COX2, IL13RA2, STAT3, IL13, IL10, MIR34A, POU5F1P3, CXCL8, MYC, RAC1, IL6, CCND1, BCL2, FOXM1, SOX9, HEATR3, SOX2, RTEL1-TNFRSF6B, H3P10, MEG3, MMP14, LOC110806263, ACTB, MTCO2P12, RNU6-1318P, CXCL12, MIR4300HG, GLI1, HOTAIR, POLR3B, RAVER2, PARP1, SHANK2, ABCG2, GFAP, ABCC1, AKT1, KIF26B, GOLPH3, POU5F1P4, TGFB2, CASP3, TSPO, PTN, PTK2, NES, TGFB1, IL4R, LMF1, LRRC31, IGFBP2, H3-3B, CASP8, SLC35A3, DKK3, MAP2K7, CCK, IGF1, PPP1R2C, PROM1, IFNB1, F3, MAPK8, MAPK3, IL1B, NEAT1, PVT1, IL4, RHBDF1, ZEB1, IL2, SIRT1, LRRC4, MIR107, COMMD3-BMI1, IL24, CSF2, HMGA2, VIM, BAX, MIR126, NFKB1, CRK, MIR205, CDK6, MIR146B, CDKN1A, MIR200B, HSPB1, CDKN1B, EPHA2, GSTT1, RNF19A, HOXA11-AS, EFEMP1, LGALS1, CCL2, POLDIP2, PDGFA, TICAM2, AIMP2, PDGFRB, AHSA1, MIR203A, HSPA5, UCA1, CRNDE, NOTCH2, MIR139, GABPA, MIR10B, TMED7, PPARG, FASLG, SETD2, SALL4, PAX3, PSMD9, GRAP2, JAG1, PTPN11, TMED7-TICAM2, FLT1, FN1, COL18A1, BECN1, CASC2, FOXO1, NGF, FGFR3, GLB1, FOXO3, HSPB3, SLCO6A1, SDC1, IGF2, S100B, CASP9, MIR200A, HSPB2, HPSE, MIR137, TWIST1, SMUG1, MIR132, ROCK1, MIR29A, POSTN, IFI27, CTSL, MIR130B, PDPN, DCTN6, ATF5, GSTK1, ZNRD2, THBS1, H3P23, CCN1, IL1A, TIGAR, PTTG1, XRCC6P5, MIR195, MIR184, XIAP, MIR183, ZEB2, VDR, IGF1R, TLR9, STAT1, FOXD2-AS1, PRKCA, TIMP2, CDC42, GAS5, TCF4, CYTOR, BMP4, TEK, BSG, ING4, AURKB, SP1, PDGFB, MIR106A, PBK, ACKR3, HSPA4, FZD7, MIR140, SLIT2, WNT5A, CREB1, MIR122, MIR15B, SMAD2, KLF4, ANXA5, PECAM1, MIR675, MIR451A, TF, TLR4, MSH6, GORASP1, MIR338, ITGAV, GDF15, PTBP1, FGF13, NCL, GLI2, TGM2, PTPRZ1, WNK1, MIR342, KLRK1, HDAC6, KLRC4-KLRK1, SNAI1, SLC2A1, GAS1, KMT2A, ILK, TP73-AS1, RELA, SRPK1, CD163, LILRB1, AQP1, MTHFR, NLGN3, LRIG2, AHR, CXCL10, SYT1, ADAM17, DICER1, AXL, MIR497, ALB, TAZ, MSH3, GLIPR1, FOXP1, CCNE1, WLS, MIR20A, WWTR1, EGR1, MIR185, MIR186, SPINT2, MIR19A, KHDRBS1, MIR23B, MIR204, MIR210, MIR214, MIR222, HAVCR2, BEX2, PLG, OSM, FOXP3, NDRG1, PRDX1, MIR142, MIR141, DSC3, VCAN, XRCC4, LDHA, ZEB1-AS1, ZFP36, PGAM1, PEG3, DCN, TFPI2, ICAM1, MIR146A, CD34, PRKAA2, HDGF, MIR98, MIR320A, PRKDC, NOS2, BCL2L12, ETS1, MIR30A, PRKCB, FABP7, ERCC4, NGFR, MIR93, EPO, PTK2B, CDK1, SEPTIN7, MIR326, PRKAA1, LRP1, ITGA3, RASSF1, HDAC1, PRMT5, PSIP1, SND1, CXCR6, JAK2, ITGB1, H2AX, ITGA5, MMP3, NOB1, ZHX2, UBD, TACC3, MFAP1, MARCKS, ABCB6, SIRT6, SNHG1, PPP1R13L, KNG1, GAB2, KRAS, MECP2, HLA-DRB1, TRIM28, BRD4, HDAC4, EGFL7, IFNA1, ANGPTL2, WWOX, IFNA13, G0S2, HSP90AA1, IL17A, RECK, CUX1, RB1, DACH1, MIR424, DCX, TERC, TIMM8A, DHCR24, PDCD1, PVR, PCBP2, PBX3, PAX6, TCF7L2, PDIK1L, TCF3, E2F3, ECT2, LGR5, RAD51, TAC1, LINC00461, SLC22A18, TRAF6, PRRT2, MIR584, ABCC3, TGFA, MIR377, MIR106B, TLR2, PRKAB1, CDC25A, MIR27A, PRKCI, MIR23A, ZFAS1, MIR215, MIR211, VHL, MIR133B, CLDN5, TIMP1, MIR375, MIR152, MIR149, XIST, MIR136, MIR134, MIR125A, MIR373, CCN2, CTLA4, MIR10A, CX3CR1, RIPK1, CD70, SHH, SATB1, S100A4, NFATC2, SOAT1, DHDDS, SLC12A9, ROBO1, SNHG16, MSC, AICDA, SMARCA4, NEDD4, MARCKSL1, CPEB1, SNAI2, FRK, FOXD1, NDRG2, FLT3LG, FOLH1, CHPT1, S100A1, SESN2, FADD, AJAP1, EPAS1, SST, APRT, ESR2, ASIC2, MIR92B, NOTCH3, ADAM9, TNFRSF10B, MAGED4, APEX1, ESR1, CCL5, SDCBP, THY1, S100A9, TP73, RPSA, SFRP1, TNFRSF1B, ITSN1, STAT5B, PTHLH, SIX1, RALBP1, RBL2, KIT, STAT6, STK11, TAT, CNTN2, UPF1, RFX1, L1CAM, RSU1, FSCN1, TFAM, TFAP2A, PTPN1, UBE2C, TRIM31, SSTR4, TGFBI, AURKA, IKBKE, TTC4, IL18R1, NEK2, PER2, NF2, HDAC3, IQGAP1, CD46, PTPRU, TNFRSF4, TNFRSF10C, NOS1, ACTR2, NAMPT, EBI3, NRAS, NEFL, NELL1, NEDD9, SQSTM1, MYH2, BCL10, PDCD5, MTAP, MELK, MLH1, HDAC9, COX5A, MMP1, MSI1, MRC1, KIF23, CLOCK, YBX1, MAP2, PSMG1, SERPINF1, TXN, EZR, LCN2, PLP2, TRPV1, VWF, WNT1, WT1, IGF2BP3, MMP7, LIF, LIG4, BTG2, CDK14, LOX, MAOB, FOSL1, CIB1, PDK1, SLC7A5, MCRS1, AXIN2, BRAP, SERPINA3, SEMA3A, SMAD4, PAK4, P2RX7, SPRY2, KHSRP, WIF1, FOXA1, BNIP3, FAT1, PDXP, BTK, DANCR, FPR1, MIR429, MIR423, MARK4, MIR383, MIR382, MIR381, MIR378A, MIR374A, FOS, CALR, NGB, MIIP, FOXC1, ADGRL4, FGFR2, CAPG, MIR335, RUNX2, RUNX1, KLF9, GAPDH, BRCA1, LARP6, ROBO4, GRM3, ASL, ATP1A1, TET2, NR3C1, TRPM7, TUG1, CEP55, MIR504, TNFRSF19, SLC2A4RG, MIR524, MIR181D, MIR494, MIR491, MIR490, GLS, MIR489, MIR485, MIR410, GBP1, NANOG, SERPINH1, GSK3B, TET1, RBM45, E2F2, DUSP2, MIR15A, MIR150, ATN1, DPP4, MIR148A, COX8A, CPE, CPOX, DOCK1, FOXK1, CRP, CSF1R, MIR130A, TINCR, LINC00174, CYP1A1, MIRLET7B, CYP2B6, IRGM, LINC01194, MIR188, MIR200C, CFL1, CD151, MIR324, CPEB4, CD276, MAGED4B, CCND2, ERN1, MIR31, ERBB3, EPHB4, CD68, CTTN, CEBPB, WNT3A, MIR26B, PYGO2, CDH1, MIR224, MIR223, ELAVL1, MIR219A1, CEACAM5, MIR206, SNHG20, CYP19A1, GSTM1, IL2RB, DCTN4, TNFRSF9, SASH1, ADCYAP1R1, IL13RA1, ANXA2, CCL22, ANGPT1, OCLN, IL22, NOP53, SIRT3, MIR216B, EEF2K, IKBKB, MIR661, RGCC, DLL1, PDCD4, AGO2, SIGLEC7, IGFBP6, CBX7, HP, SNHG18, NUP62, GSTM3, SLC7A11, HSPA1B, HES1, ING1, HSPA1A, SPRY4-IT1, HK2, GTF2H1, MMRN1, ISG20, ADAM22, RND3, ADA2, DKK1, MIR599, MIR613, MIR622, NRG1, HCLS1, PTCSC3, GACAT3, UGT1A, UBE2N, SKP2, WNT7B, TYMS, SHMT2, XPO1, YY1, CCAT1, MIR25, ZAP70, SDC2, ZFX, HOTTIP, MIR1908, MIR1301, TRPC6, TRPC1, MIR27B, BCAR4, MICA, MIR296, TRP-AGG2-6, UCN, WNT7A, MIR17, MIR127, MIR301A, WSPAR, MIR16-1, XRCC5, MIR181A2, PANTR1, GHET1, MIR181C, MIR129-2, MIR193A, SIM2, UGT8, BLACAT1, VEGFC, LINC02605, HOTAIRM1, SH3GL2, H3P5, USP1, UQCRFS1, LINC00958, MIR143, MIR18A, SLC22A3, MIR30B, SOX4, MIR638, TEP1, MIR650, SNHG5, OIP5-AS1, MIR452, ACOD1, MIR433, MIR363, MIR449A, MIR454, NR2F2, MIR770, SOX10, MIR448, MIR376B, MIR637, TRA, STC1, SYP, SUV39H1, SULT2A1, SNHG6, MIR539, MIR421, HAS2-AS1, TCF12, MIR592, STAT5A, MIR193B, MIR495, MIR634, SSTR2, MIR4435-2HG, MIR384, SLC8A2, MIR876, SMN1, MIR1231, MIR1294, SMARCA1, MIR1236, MIR17HG, MIR96, TPM3, SLC12A2, MIR95, MIR33A, TPT1, MIR32, SLC9A1, MIR30E, SMN2, MIR328, MIR1275, MIR936, SOD3, MIR361, HCG11, MIR374B, TGFBR2, MIR372, THBS2, CD24, MIR367, SNCA, MIR346, MIR940, MIR340, NR2E1, KLF8, AGPS, LINC01116, PIEZO1, DLL4, ELMO1, SV2A, KIF14, MVP, SCO2, PPIL3, HDAC5, FRAT1, CAB39, ACSL5, NLK, SMC4, MPC1, RNF138, KIF20A, HIPK3, TRAP1, TRPV2, ZMYND10, PHF20, KEAP1, FBLIM1, NCR3LG1, RMDN3, ADGRG1, CTNNBIP1, PNO1, SLC9A3R1, RAD18, SPHK2, PANX2, NTN1, POLE4, METTL3, ARHGAP15, NSUN5, URGCP, NLRP2, TMEM59, PTGES, CXCL14, SOX6, CDCA7L, BATF3, ZNF654, NDUFA13, RNF41, MPHOSPH6, ASCC1, SRRM2, DLL3, POLD3, CBX5, KDM5B, MTHFD2, GJB6, SYNM, USP22, FGL2, SUB1, MPRIP, FERMT2, SLC27A3, KDM6B, PEG10, RIPK3, PHLPP2, KDM1A, PTP4A3, CBX3, CADM1, CAMKK2, IL17RA, SEMA3C, F11R, TNIP1, DELEC1, ADGRE2, RACK1, NDC80, IFITM3, TMEM97, RBMS3, CACYBP, IGF2BP1, GREM1, LATS2, MYCBP, PHGDH, TRIM3, NOC2L, PHF19, ARHGEF26, CHD5, PIWIL1, PAK5, MTA2, CREB3L1, FOXR2, CD109, ATRN, LRIG3, PIK3R3, PARK7, VASN, BHLHE40, MIR155HG, DENR, MKNK1, NLRP3, UCN3, AZIN2, EGLN3, TP53INP1, PEA15, FOXQ1, TRADD, MBTPS1, TNFSF12, ULK1, PIWIL4, PWAR1, MAGI3, MACC1, SEMA3B, USP7, GADL1, LINC01139, SNHG15, HOXA-AS2, CAVIN1, ADGRF1, IL27, GLIPR2, CTAG1A, SPDYA, LGI3, SPAAR, MIA, MLRL, LINC00599, LZTR1, RDH10, ATP23, IL33, GATAD2B, ADAM23, IER3, MAPKAP1, P2RY12, ARHGEF7, HHIP, IL21, CXCL16, MBD2, CADM3, POLD4, PKD2L1, SEMA5A, SLC7A7, DIRAS3, NMI, LATS1, INA, AIFM1, ANKRD36B, MIB1, LPAR2, MMP28, SLC52A2, SHCBP1, BRMS1L, DIXDC1, CD164, TSPYL5, TNFRSF11A, SNHG12, ORAI1, TNFRSF10D, MAK16, ECRG4, TNFRSF10A, FER1L4, TRIM24, HSDL2, MINDY4, ZIC4, NUF2, NRP2, ARHGAP24, TRIM11, NR1I2, NAT2, H3P40, CXCL9, PIN1, PKD2, EMP2, HOXC10, PLAUR, EMP1, RHOA, ARF6, HOXC6, PLD1, MT1JP, HOXB3, PLOD2, ARAF, PLXNB3, CCR5, PITX1, SLC25A3, AQP9, FASN, ENG, HSP90AA2P, HSPA8, HSF1, ACSL4, ATF4, PER1, CDKN1C, ASPA, PFKFB4, PGK1, MUC1, AGFG1, HOXD9, MTRR, CCR6, CNR1, FKBP5, ANXA6, CRYAB, CSF3, CSK, AMBP, CST6, CD200, MAP2K1, ALDH1A3, CTAG1B, CTBP1, PRNP, CTSD, KCNMA1, PROX1, HMOX1, ANXA1, ANXA7, MT1E, HOXA@, CNTFR, POLD1, COL3A1, HOXA9, FEN1, COL4A3, EFNB2, MSN, PPARA, EFNA1, COL11A2, PPIA, KCNA5, FGF1, CP, CDK7, HSPG2, FANCD2, CD2, CALM2, IL2RA, CALM1, CALD1, P4HA1, P4HB, PEBP1, CALCR, NFKBIA, DDR1, PAEP, CA9, CA2, ERCC5, VPS51, CALM3, CAMK2B, HTC2, CCNH, NT5E, IMPA1, EPHA5, NTSR1, NUP98, IDO1, OPA1, RUNX3, NOVA1, IL18, CASP1, CCNG2, IL16, IL15, NME1, RBPJ, IGFBP7, CD86, EPHA3, ADGRE5, BCL2L1, EPHA1, MYCN, CDC20, MYBPH, CDC25C, CDH2, F2R, CDH13, ITGB3, F2RL1, PCDH8, PCDH9, MXI1, BCL3, IRS1, BCL6, KLF5, INSR, NFATC1, IGFBP3, IGFBP1, CD40, BTF3, BRS3, IRF7, CD40LG, IRF3, BMP7, ID2, ETV4, BGN, HMMR, CCNB1, LPL, MGP, CYP17A1, GRIN2B, RASGRF1, MCM2, RARB, ACE, HIC1, DCT, FOSL2, RAP2A, FOSB, RAB27B, ADRA1A, RANBP2, HK1, GRIA1, FLT4, GH1, ACTL6A, ADRA2B, ADRB2, HLA-E, ADM, DUSP4, GALNT2, LAMC2, TRIM27, FUS, ADARB1, REST, LGALS9, MEF2D, GSN, RELB, HAS2, REG1A, G6PD, HELLS, RDX, MEN1, LASP1, GRM1, FOXG1, CFH, XRCC6, DUSP1, HFE, GPX1, FUT4, SMAD3, SCD, MMP12, GPR42, PTX3, PTPRZ2, EDNRA, SAI1, PTPN2, PXN, DNMT3A, GLO1, KIF2A, PTPN3, SMAD7, DECR1, PSMB4, ACAT1, AEBP1, MXD1, TYMP, PSEN1, PSAP, DDX5, CCL20, RAB1A, PSEN2, DVL2, RAB5A, CCL8, GLUD2, AFAP1-AS1, ACRBP, MARCHF8, DIRAS1, EPHA4, DNM1, SNORD35B, RCAN1, DRD5, PCGF1, SLC29A1, DTX3L, PAQR3, DKC1, RMDN2, SPZ1, CCNY, TMEM167A, DNM2, DACT2, ADGRE3, PAQR7, CITED4, ANO6, KDM2B, MLKL, ENO1, PPP1R9B, LGI4, ZNF296, SLFN5, SLC5A8, CADM4, FMR1NB, DNMT3B, TET3, DPEP1, SLC39A11, PAXIP1-AS1, ZGPAT, PRSS55, SLC26A3, LNX1, PEBP4, SGMS2, LINC00689, PLEKHA8, SKA1, AGAP2, SNORD14E, ATG4C, ZFP42, LACTB, EEF1G, EDN1, MCM3AP-AS1, LINC00313, FAM83F, FAM168B, SLC52A3, TMEM18, SLC46A1, DYRK1A, EFNB3, VPS37A, EIF4E, EGLN2, EIF4EBP2, MEGF10, CMPK2, SERPINB1, IKBIP, THEM4, ANTXR2, LRG1, IL22RA2, KIR3DL3, PRAP1, UHRF2, H4-16, PHC1, RAB42, ATG4A, LGMNP1, EDNRB, JDP2, TSACC, CYGB, TMEM71, PASD1, AJUBA, E2F7, EMX2, EN2, ZIC5, RHPN2, SNORD14D, OR2AG1, SNORD14C, HBEGF, MIB2, CEP128, RBM17, DSPP, ATG4D, LINC00052, TTBK2, LINC00526, EMP3, UNC5A, UPRT, NLRP12, ORMDL3, ST7-AS1, DVL1, NAPRT, GAB3, NAF1, ELF4, PCED1B, STARD13, ELK1, ELK4, S100A16, SPOCD1, ZBTB46, LINC00473, DYNLL2, EEF1B2P2, MAP1LC3B, PHYHIPL, FXN, PRDM13, FLNB, KMT2C, NLRC4, ENOPH1, SRPRB, FLNC, FLOT2, PTBP2, FMOD, GATAD1, SCUBE2, KIAA1549, TSHZ3, CFAP97, PCDH10, SEMA6A, FPGS, RPTOR, GPR158, MTA3, FPR2, REXO1, TRPV4, PBOV1, TGIF2, NOD2, FHL3, CDH22, VEGFD, SIL1, ARHGAP9, COP1, NSD1, FBRS, FKBP4, ARHGEF28, TNMD, FLG, SMOC1, SAMSN1, FOXL1, PRSS22, ERVK-6, HEATR6, PIEZO2, FOXC2, PROK2, FOXD2, PLEKHG5, SCYL1, MAP3K21, FTH1P3, LRRC8A, GSDMC, TEX11, PCDHGA11, SLC50A1, GJB2, SULF2, ACSS2, GCLC, GCLM, CENPJ, UBAP2, ADCY10, CACNA2D3, PRR11, AGK, HHAT, WDR11, GLDC, GLP1R, GLUD1, SYBU, CHD7, MMP26, DIABLO, KAT2A, GAB1, TTYH1, GAST, VANGL2, SMURF1, FZD2, RTN4, GOPC, PNPLA2, SLC17A7, SLC37A4, GAD1, GBP3, LHX9, PMEPA1, CA10, SEMA3G, GAP43, LGALS14, GAS6, GATA2, SLAMF8, GATA6, FHL2, TMPRSS3, GPC5, FGF9, DDX59, EXT1, MED25, ST6GALNAC5, SPRY4, NUAK2, NQO1, KAZALD1, TRIM8, NDEL1, EZH1, CLPTM1L, ZNF436, CMIP, F10, PDCD1LG2, ACSL1, ACSL3, SPHKAP, TRIM45, ORAI2, FHOD3, CTC1, MECOM, RASSF5, SOX7, EYA4, CARD11, EPHA8, AKT1S1, EPS8, ING5, BTBD10, RPAIN, EREG, ZDHHC18, USP48, KAT8, ESRRA, PCBD2, USP44, MAGT1, REG4, RASSF4, RAB34, FSD1L, KLF16, FERMT3, JAM3, FBXL18, NAA25, WWC2, RHPN1-AS1, FSD1, BRCC3, FECH, DERL1, CHAC1, TRPM8, AHNAK, GGCT, LINC01260, CUEDC2, DUSP26, BHLHE41, WNK2, FGF4, RTN4R, NBEAL1, CDK15, NDRG4, NT5DC2, BCL11B, NIBAN2, FGF7, IRX1, FDXR, C10orf88, LIN28A, BPTF, FAP, FBP1, GGNBP2, LINC00115, CAMKMT, FCER1A, FCGR1A, GEMIN7, ADGB, SUV39H2, NKAP, RIOX1, CENPU, DYNC2H1, MCPH1, TNFAIP8L2, RNASEH2B, HMBOX1, TCTN1, CHPF, FCGR1B, DIAPH1, CXCL11, DES, MIR300, ANPEP, MIR766, MIR769, MIR767, MIR671, SNHG9, APAF1, LOC730100, NBAT1, BIRC3, NAIPP2, USP17L30, USP17L29, USP17L28, USP17L27, USP17L26, USP17L25, USP17L24, APLP2, LOC728196, LINC00460, MIR663A, APOC2, ANG, AMPD1, AIF1, MIR744, MIR1468, TMEM238L, CASC11, PCED1B-AS1, TPT1-AS1, MFT2, MIR1224, ALAD, HOXA-AS3, RAB6C-AS1, AGAP2-AS1, UBE2CP3, MATN1-AS1, C20orf181, FAM83H-AS1, EGOT, MIR760, MIR543, MIR708, ALDH1A1, AKR1B1, MIR301B, MIR873, MIR656, MIR654, H2AC19, MIG7, ARL2, H3P38, ARL3, ARNTL, SCFV, RAET1K, ART1, ASCL1, MNX1-AS1, RASSF10, MT1IP, FLVCR1-DT, CERNA2, ATIC, POTEM, MIR455, MIR486-1, MIR484, MIR483, LINC00589, ATP1A3, ZFAT-AS1, MIR509-1, MIR487B, MIR542, MIR411, MIR610, APOE, APP, MIR646, AR, ABCC6, MIR630, MIR628, MIR625, MIR616, ARCN1, MIR608, ARHGDIA, MIR605, MIR603, ARL4D, MIR596, MIR593, MIR577, MIR576, MIR564, MIR548C, MIR532, MIR1265, MIR1287, MIR506, LINC01857, MIR6807, MIR6852, MIR6743, MIR6165, LNCNEF, UBE2R2-AS1, LINC01198, ACVR1B, TRPM2-AS, LINC01494, CASC9, ACYP2, LSINCT5, FOXD3-AS1, ADA, LINC-ROR, HOXC13-AS, HOXC-AS2, HOXA10-AS, MIR5582, PCAT1, LINC01023, ADAM10, GATD3B, TP53COR1, MIR1249, CCND2-AS1, H3P29, AAVS1, ABCA1, H3P24, ABCA4, H3P8, H3P9, LNCRNA-ATB, MNS16A, ACP3, PSMD6-AS1, CNE-2, H3P14, ACTC1, MIR3142HG, ACTG1, MDC1-AS1, CST12P, FOXD1-AS1, ACTG2, LINC02210-CRHR1, ACTN4, SNHG14, MIR4725, ERVK-20, MIR4518, MIR4775, MIR210HG, LINC01503, LUCAT1, LINC00645, MAGI2-AS3, CARD8-AS1, MIR3908, LINC00673, MIR4262, MIR3175, MIR4295, MIR3148, MIR2276, FTX, MIR1290, ADSL, MIR1202, AP2A1, MIR1271, MIR1825, AGER, MIR1205, APLNR, ADORA2A, ADORA1, LINC01426, LOC100507703, MIR4493, MIR1587, MIR4500, MIR499B, MIR4731, ADAR, RAB4B-EGLN2, BCL2L2-PABPN1, ADARB2, RBM14-RBM4, PSMB8-AS1, CBR3-AS1, ADCY2, ADCY8, ADAMTS9-AS2, MELTF-AS1, ADCYAP1, TUNAR, PWAR6, HOXD-AS2, ADK, PXN-AS1, MIR508, ATP7A, RICTOR, CYC1, MIR100, MIRLET7G, MIRLET7E, MIRLET7C, CYP1B1, CYP2C9, WDFY3-AS2, HAPLN4, FAM224A, GASAL1, CASC15, HAGLR, LINC00909, LINC00511, CYP2D6, USP17L9P, SLC39A4, FEZF1, CYP2E1, TRABD2B, HES5, KMT5A, LINC00320, CYLD, CTSK, CLK1, CTNND2, CNTF, MIR181B1, CNTN1, COL4A1, COL9A1, COL9A2, COL9A3, MIR154, COMP, COX4I1, COX5B, COX7A2, ATF2, CRH, CRHR1, CRMP1, CRY1, CRY2, CSPG4, CST3, MIR128-1, CTBP2, CTNND1, CYP2J2, CYP4B1, USP17L2, LHFPL3, LINC00319, ZNF326, RSPO1, EMC10, CXCL17, GADD45A, DDIT3, H19, LINC00515, HCA1, DDX6, CYP4X1, ASPM, SGMS1, SVIP, SHPRH, DHX15, PTF1A, SYT14, MCOLN2, TAC4, ZDHHC23, CADM2, STPG4, TUSC7, SLC9A9, DBP, ASPG, CYP27B1, DAG1, PRAC2, DAO, SKA2, SOX2-OT, DAXX, ACTBL2, DBN1, DCC, DCK, RAB43, GPIHBP1, CHSY3, CELIAC2, TRIM59, LIN9, FAM133A, PAXX, SCAI, DLX6-AS1, CCR7, MIR190A, MIR503, BTG1, C1QBP, SAMD12-AS1, SERPING1, DUXAP8, RGMB-AS1, MIR425, PTTG1IP, MIR422A, CA11, MIR379, CALCA, CISD2, MIR196B, CALML3, MIR370, MIR376C, CAMK2G, CAMP, CAPNS1, CASP2, CASP6, MIR330, CBL, BUB1, H4C15, CLIC1, MIR362, MIR501, MIR499A, MIR527, MIR520D, MIR519D, MIR517A, BAG1, MIR520C, MIR520B, MIR520A, ADGRB1, BCAT1, MIR496, BCL2L2, MIR432, MIR202, BDH1, CEACAM1, MIR488, PRDM1, BMPR2, MIR409, ZFP36L1, KRIT1, MIR323A, MIR302C, MIR302B, CDK5, MIR218-2, MIR217, CDK8, MIR212, CDKN2D, CDKN3, CDX2, CEBPA, CEBPD, CHD1, CHD4, CHEK1, CHKA, CISH, CLC, MIR19B1, CLCN4, MIR199A2, MIR199A1, MIR197, MIR196A2, CLCN7, CDH18, CDH11, CDH5, CD28, CCND3, CCNF, LOC441204, POTEKP, MIAT, TNFSF12-TNFSF13, CD247, CD8A, MIR34B, CD27, TNFSF8, CDH4, ENTPD1, CD47, MIR302A, CD48, MIR29C, MIR29B2, MIR29B1, CD74, MIR28, CDC25B, DEPDC1, GUCY1B1, TENT5A, P2RX4, EIF3D, EIF3C, EIF3A, PDE5A, NCOA1, OPRD1, KLF7, PLA2G4C, CASK, OPRK1, OXCT1, CDK10, TAGLN2, P2RY1, FURIN, PCSK6, GPR65, SMARCA5, CUL1, DYRK2, RAD54L, CAVIN2, PAH, SNHG3, EIF3I, VAMP8, TNFRSF11B, OPCML, NFATC3, NFATC4, CFLAR, NFIB, NFIL3, NFIX, CES2, NHS, SUCLG1, NINJ2, NOP2, NPY, DLK1, RIOK3, NOVA2, TNFRSF6B, RIPK2, NPM1, NPPC, NTF3, NTS, ODC1, HYAL2, SERPINB2, SPOP, PER3, TAM, PRKN, BAP1, PAWR, H4C9, TKTL1, SMC1A, USP9X, PCBD1, DVL1P1, BAS, GATD3A, CDR3, SPARCL1, PCSK1, ANP32A, PWAR5, CDK2AP1, CDK16, PDE4C, KMT2D, PDK3, CSRP3, MLLT10, PSCA, CDC45, FZD4, PAM, H2AC18, MAD1L1, HYAL3, H4C14, H4C13, H4C5, H4C2, H4C8, H4C3, H4C11, H4C12, H4C6, H4C4, H4C1, PAK1, H3C10, H3C12, H3C8, H3C11, H3C6, H3C3, H3C4, H3C1, H2AC20, APLN, NEO1, ENOSF1, FHL5, MOV10, GOSR1, LITAF, GAL3ST1, ADAMTS1, MAGED1, MPG, MAPK8IP1, ROCK2, MPI, ARHGEF6, AIM2, NRXN3, GSTO1, MPZ, NCR1, MRE11, MYO1B, ZNF264, DDX23, ZRANB2, RECQL4, TSIX, MSR1, BAG3, MMP16, MMP15, BCAR1, CD99, SPOCK2, CKAP5, PCLAF, MITF, KMT2B, SLK, MME, DCAF1, NOS1AP, HERPUD1, ULK2, UBE3C, KDM4A, PHF14, MDC1, SH3PXD2A, AKAP12, WTAP, APOBEC3B, SOX13, BABAM2, MMP13, ADIPOQ, MST1, SEPTIN2, MYBL2, MMUT, DNAJA3, MUTYH, ANGPTL1, SYT7, MVD, PRC1, MX1, SOCS3, MAP3K14, HAP1, PLOD3, MT1A, WASL, H3C7, BTRC, MBD4, TIMELESS, CCNA1, MTMR3, MYH10, MYL2, NAP1L1, NCF2, TRIM37, SLC16A4, SLC16A3, PDLIM1, B4GALT5, MT1B, NREP, ASIC3, S1PR2, MT1F, GPR37L1, MT1G, STK17A, AIMP1, NUMBL, MT1H, NOG, MT1M, MT1L, MT1X, SLC16A7, ARHGEF2, OSMR, COX1, EBAG9, MTNR1A, CCNB2, TUSC3, PDK4, NTT, SPOCK1, ST13, ST2, RBBP5, RBBP6, RBP1, SSRP1, ITPRID2, SREBF2, SRI, SRD5A1, SRC, SPI1, RNASE3, SP3, REN, DPF2, SOX5, REV3L, SOX1, SOS1, RGS3, SOD2, RGS4, RMRP, ST14, STAR, KDM5A, STAT2, VPS72, RAB2A, RAB3A, RAB3B, RAB6A, TBX1, RAC2, TAP1, TAL1, TACR1, RAC3, RAD51B, MOK, RAD52, VAMP7, RANGAP1, SULT1A1, RAP1B, STK4, STIM1, RAP2B, PLAAT4, RASA1, SNRNP70, RNF5, TFEB, TRA2B, SORT1, ST8SIA1, S100A11, SIAH1, SHOX2, S100A13, SAA4, SHBG, SH3GL3, TSPAN31, SGK1, SRSF3, ABCE1, SRSF1, SFRP4, SFRP2, SCN8A, MAP2K4, SEL1L, SDHD, SDHC, SCNN1D, CCL18, CX3CL1, RYR3, SIX3, SKI, RYK, SMPD1, RORA, RORB, SMARCB1, RPA3, SMARCA2, RPL11, RPL34, SLIT1, RPS6, SLC18A1, RPS6KA1, SLC9A5, RPS6KA3, RPS6KB1, RPS15, RRM1, SLC2A5, SLC2A3, RRM2, SLC1A3, SLC1A2, SLAMF1, PRDX2, TEAD1, PTPRJ, VCAM1, VTN, VSNL1, VRK1, VIP, PLP1, PLTP, PMP22, PMS1, PNLIP, VDAC2, VCL, VASP, TERF1, UTRN, POLB, USF1, UQCRC2, POMC, PON1, UGP2, POR, UCHL1, SUMO1, POU3F3, PLEK, WEE1, PLD2, WNT2, NELFE, PF4, PFN1, DAP3, DNALI1, PRDM2, ZYX, ZNF217, RNF112, ABCB4, ZNF143, PHB, PHEX, PIK3C2B, PKD1, PKP2, PLA2G5, PLAT, WRN, WNT2B, WNT11, PLCL1, PLCG1, UBE2I, U2AF1, TXNRD1, MAP2K2, PRL, TNFAIP2, PROP1, TMSB4X, TM7SF2, TSPAN8, LGMN, PRSS8, TKT, NKX2-1, TIMP3, KLK6, PSD, PSMB8, PSMD10, PTCH1, PTH, PTGS1, TFF3, PTPN9, PTPRA, PTPRC, PTPRF, MAP2K3, TP53BP1, MED1, TPD52, TNFSF4, PTPA, TTR, TTK, PPP5C, TSC2, PREP, TRPC5, SRGN, PRKACG, PRKCD, PRKCE, TRAF3, TRAF2, TRAF1, HSP90B1, NR2C2, CRISP2, PRKG2, MAPK7, TPM1, TPI1, TPD52L2, ARHGEF11, TRIM14, CIITA, UBE2S, CPS1-IT1, HIPK2, HOXA7, MRPL42, LAMTOR2, TRIB2, HOXA10, POLM, SGSM3, HOXA11, POLL, EIF3K, ZBTB32, BHLHE22, HOXA13, HOXB1, GLS2, HOXB7, INTU, HOXB9, EIF2AK1, HOXC4, HOXC8, LAT, HOXA5, LINC00339, NXT1, SAP30BP, MBL3P, HNRNPA1, HNRNPC, NOX4, HNRNPF, STOML2, EHD3, HNRNPK, ERVW-1, BICRA, HNRNPU, A1CF, RMC1, HOOK2, HOXA3, TRA2A, MYLPF, REPIN1, CARD10, TMOD4, UHRF1, HOXA4, BRD7, NOX1, MLH3, IL1RN, CLEC5A, QPCT, RASGRP3, POTEH, HTR1E, HTR2C, RAB38, HTR5A, HTR6, HYAL1, ID1, DAPK2, AMACR, HBP1, PATZ1, WBP2, PSD4, ID4, ZNF281, KCTD2, DAAM2, TNFRSF13B, IGFBP4, TRAM1, IGSF1, BAMBI, PRDX5, BRMS1, PRKD2, RANBP6, SNORD47, CKAP2, HOXD4, HOXD10, FBXO8, HPR, HRC, SERBP1, PRPF31, HRG, PRMT1, DNM3, CNTNAP2, KANK2, RWDD3, SYF2, CLIC4, ZDHHC5, HTR1A, LETMD1, MPC2, RPL36, PCA3, HNF4A, TRAT1, SAMD9, PINX1, SDHAF2, CMTM6, FOCAD, MKS1, ELOVL2, CASZ1, BCOR, EPS8L1, PGPEP1, ANKRD49, DYM, STMN3, ARHGAP35, TRIM44, IL17RD, GRM8, CXCL1, DDIT4, PDIA3, RIN2, TREM2, NANS, DCUN1D1, MCUB, PID1, GPX4, EPN3, GLUL, ASIC4, SAGE1, GNRHR, GPC1, HES6, GPD1, LGR4, STYK1, LAPTM4B, GPD2, GPI, CCR10, IMP3, STEAP3, APPL2, GRK5, GRK6, HEATR1, PIWIL2, AGGF1, ANO1, TMEM45A, GSTM2, GUCY1A1, XCL1, PHF21A, TLR7, GOLM1, NT5C3A, HLA-F, NUSAP1, CPA4, HERC5, PLEKHO1, HLA-G, HMGB2, HMGCR, IRAK4, GOLGA7, RMDN1, SH3GLB1, ADIPOR1, GAL, HMGA1, PLEKHA8P1, UBXN1, FIS1, TMED5, FOXA2, SLC22A17, TAOK3, TPCN1, HLA-DQA1, SHC3, IL17D, GALNT7, HDAC2, CMPK1, HEXA, RAB23, HEXB, TPPP3, GINS2, STYXL1, RASD1, PPIL1, SF3B6, KLF13, IL23A, HIVEP2, SIRT7, ISYNA1, POLK, HLA-DMA, CRLF3, ANGPT4, SLC44A1, NOMO1, MGAT5, C1D, SEMA4B, STK25, VAT1, HOXB13, SLC30A9, MERTK, LSS, MAD2L2, GPNMB, HAX1, LUM, IFI30, SMAD6, RBM14, LYN, LYZ, TACSTD2, CPQ, PIAS3, MAD2L1, SMAD1, TUBB3, IRF9, KLF2, LOXL2, LMO2, LLGL1, RNASEH2A, LAMC1, CELF2, CELF1, LBP, LCK, IGF2BP2, LDLR, LEP, NPRL2, RAD51AP1, LEPR, TXNIP, LIG1, PDLIM5, LIM2, SMC2, CCT4, MRPL28, SLC34A2, SLC35A1, SPTLC1, HTATIP2, LIMS1, HMG20B, CCNO, ZFPM2, RAB8A, ABCC5, SAE1, MCM7, CHAF1A, ME1, MEF2C, ZBTB33, MEFV, MAP3K1, HNRNPDL, TNFSF15, USP15, DLEU1, WDR1, P2RY14, MRC2, MEOX2, UBAP2L, SNAP91, TOX4, TLK1, SEC24D, MELTF, MGAT1, MCM6, DNM1L, MCM3, PPIF, APC2, CDK2AP2, ABCC4, MAG, SPRY1, TRIB1, MAGEA2, MAGEA6, MAOA, TNK2, WASF2, ATP6AP2, MAP1B, CEBPZ, MAS1, MBD1, BCAP31, OPTN, MBL2, ARL4A, MBP, MCAM, RAD50, EBP, LAMB2, CCT8, ITGB5, ATF6, CD93, ITGA4, ITGAX, FNDC3A, CILK1, CPEB3, PHLDA1, COPG1, ITGB4, OIP5, TUSC2, USP39, PDAP1, ACOT7, VSIG4, ITGB6, ITGB8, TREX1, TP53TG1, ITIH4, ITK, PTENP1, ITPKA, RAB18, ITGA2B, ELL2, RAB21, IL5, COTL1, IL6ST, CXCR2, NEDD4L, ICOSLG, PHLPP1, ARC, PLCB1, JMJD6, ACSBG1, FOXK2, LARP4B, ILF2, ING2, TOGARAM1, IQSEC2, KIF1B, ZNF423, INS, PDXDC1, MYT1L, IRF1, JAK1, JARID2, JUN, KCNQ1OT1, STIP1, KCNMB1, KHK, BRD8, MALT1, RAB10, KIF5B, PGRMC1, KLK2, KLC1, KPNB1, KPNA2, KRT1, LAMA4, TRAF3IP2, GIPC1, CHL1, LAMA5, PLK4, TCFL5, NFAT5, CERS1, LAMB1, CKAP4, COPS5, FSTL1, METAP2, SOX21, CD82, HHLA2, PTPRT, RPP14, ADAMTS5, ADAMTS8, ESM1, TRIOBP, TPPP, KCNA3, RAPGEF4, WWP2, WWP1, TENT4A, KCNA10, DSTN, KCNB1, KCNH1, KIF2C, SLC27A2, KCNK1, SLC38A3, SEMA7A

Glioma Susceptibility 5 Omim

For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800). Mapping Working from the hypothesis that coinheritance of low-risk variants contributes to the 2-fold increased risk of glioma in relatives of individuals with primary brain tumors, Shete et al. (2009) conducted a metaanalysis of 2 glioma genomewide association studies by genotyping 550,000 tagged SNPs in a total of 1,878 cases and 3,670 controls, with validation in 3 additional independent series totaling 2,545 cases and 2,953 controls. They observed significant association of a single-nucleotide polymorphism (SNP), rs4977756 (OR = 1.24, 95% CI 1.19-1.30, P = 7.24 x 10(-15)) located 59 kb telomeric to the CDKN2B gene (600431) within a 122-kb region of linkage disequilibrium on chromosome 9p21.3. This region encompasses the CDKN2A (600160)-CDKN2B tumor suppressor genes, which have an established role in glioma. Homozygous deletion in CDKN2A is detectable in approximately 50% of tumors (Cancer Genome Atlas Research Network, 2008, Parsons et al., 2008), and loss of expression is linked to poor prognosis.
Glioma Mayo_clinic

Astrocytoma Astrocytoma is a growth of cells that starts in the brain or spinal cord. The growth, called a tumor, starts in cells called astrocytes. Astrocytes support and connect nerve cells in the brain and spinal cord. Astrocytoma symptoms vary based on the tumor's location. An astrocytoma in the brain can cause personality changes, seizures, headaches and nausea. An astrocytoma in the spinal cord can cause weakness and disability in the area affected by the growing tumor. Some astrocytomas grow slowly. They aren't considered to be cancerous.
Glioma Wikipedia

Furthermore, incomplete DNA repair can give rise to epigenetic alterations or epimutations. [27] [28] Such mutations and epimutations may provide a cell with a proliferative advantage which can then, by a process of natural selection, lead to progression to cancer. [ citation needed ] Epigenetic repression of DNA repair genes is often found in progression to sporadic glioblastoma . ... The neuropathological evaluation and diagnostics of brain tumor specimens is performed according to WHO Classification of Tumours of the Central Nervous System. [47] [48] Low-grade brain glioma in a 28-year-old male. (Taken on 10 July 2007) Biologically benign gliomas [WHO grade I] are comparatively low risk and can be removed surgically depending on their location [43] Low-grade gliomas [WHO grade II] are well-differentiated (not anaplastic ); these tend to exhibit benign tendencies and portend a better prognosis for the patient. ... "O6-Methylguanine DNA methyltransferase protein expression in tumor cells predicts outcome of temozolomide therapy in glioblastoma patients" . Neuro-Oncology . 12 (1): 28–36. doi : 10.1093/neuonc/nop003 .
Glioma Susceptibility 6 Omim

For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800). Mapping Working from the hypothesis that coinheritance of low-risk variants contributes to the 2-fold increased risk of glioma in relatives of individuals with primary brain tumors, Shete et al. (2009) conducted a metaanalysis of 2 glioma genomewide association studies by genotyping 550,000 tagged SNPs in a total of 1,878 cases and 3,670 controls, with validation in 3 additional independent series totaling 2,545 cases and 2,953 controls. They observed significant association of a single-nucleotide polymorphism (SNP), rs6010620 (OR = 1.28, 95% CI 1.21-1.35, P = 2.52 x 10(-12)) in intron 12 of the helicase gene RTEL1 (608833) and mapping within a 65-kb region of linkage disequilibrium on chromosome 20q13.33. Amplification of 20q13.33 was seen in approximately 30% of gliomas with copy number change correlating with RTEL1 expression. RTEL1 maintains genomic stability directly by suppressing homologous recombination.
Glioma Susceptibility 3 Omim

A number sign (#) is used with this entry because glioma can present as part of a tumor predisposition syndrome caused by germline mutation in the BRCA2 gene (600185) on chromosome 13q13. For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800). Clinical Features Reid et al. (2005) reported a family in which 2 brothers developed Wilms tumors and brain tumors. The older son came to attention when cryptorchidism was corrected at 2 years of age, at which time he was below the 3rd centile for height, weight, and head circumference and had hypo- and hyperpigmented areas and a few cafe-au-lait spots. At age 3 years a stage 3 Wilms tumor was removed. At 9 years of age he developed seizures, and glioblastoma multiforme was detected.
Glioma Susceptibility 2 Omim

A number sign (#) is used with this entry because glioma may present as part of a tumor predisposition syndrome caused by mutation in the PTEN gene (601728) on chromosome 10q23. For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800). Clinical Features Staal et al. (2002) identified a heterozygous germline mutation in the PTEN gene in a patient with glioma. A 38-year-old male presented with focal seizures of the right arm and dysphasia. No neurologic abnormalities were found on examination. Antiepileptic drug medication resulted in a marked reduction of the seizures.
Glioma Gard

Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor: Astocytoma - tumors that develop from star-shaped glial cells called astrocytes Ependymomas - tumors that arise from ependymal cells that line the ventricles of the brain and the center of the spinal cord Oligodendrogliomas - tumors that affect the oligodendrocytes The symptoms of glioma vary by type but may include headaches; nausea and vomiting; confusion; personality changes; trouble with balance; vision problems; speech difficulties; and/or seizures. The exact underlying cause is unknown. In most cases, the tumor occurs sporadically in people with no family history of the condition. Treatment depends on many factors, including the type, size, stage and location of the tumor, but may include surgery, radiation therapy, chemotherapy and/or targeted therapy .
Glioma Susceptibility 8 Omim

For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800). Mapping Working from the hypothesis that coinheritance of low-risk variants contributes to the 2-fold increased risk of glioma in relatives of individuals with primary brain tumors, Shete et al. (2009) conducted a metaanalysis of 2 glioma genomewide association studies by genotyping 550,000 tagged SNPs in a total of 1,878 cases and 3,670 controls, with validation in 3 additional independent series totaling 2,545 cases and 2,953 controls. They observed significant association of a single-nucleotide polymorphism (SNP), rs2736100 (OR = 1.27, 95% CI 1.19-1.37, combined P = 1.50 x 10(-17)) at chromosome 5p15.33 in intron 2 of the TERT gene (187270). TERT encodes the reverse transcriptase component of telomerase, essential for telomerase activity in maintaining telomeres and cell immortalization.
Glioma Susceptibility 4 Omim

For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800). Mapping Pannu et al. (2002) studied genetic linkage in 15 familial glioma pedigrees ascertained through patients operated on at Tampere University Hospital and drawn from an area of 1 million inhabitants in western Finland. They hypothesized that the patients might carry the same low penetrance susceptibility allele. Pannu et al. (2002) used a 2-stage strategy for gene mapping. A genome screen in 4 families revealed 4 areas of interest; additional markers in these regions provided evidence of significant linkage to chromosome 15q23-q26.3 with a maximum nonparametric linkage score of 3.35 with marker D15S130. Investigation of all 15 glioma families by association analysis (haplotype pattern mining) and through use of the transmission-disequilibrium test gave further evidence of significant association/transmission distortion at the same 15q locus.

Diabetic Cheiroarthropathy Wikipedia

Clinic Population over a 20-Year Period" . Diabetes Care . 28 (3): 658–661. doi : 10.2337/diacare.28.3.658 . v t e Diabetes Types Type 1 Type 2 LADA Gestational diabetes Diabetes and pregnancy Prediabetes Impaired fasting glucose Impaired glucose tolerance Insulin resistance KPD MODY Neonatal Transient Permanent Type 3c (pancreatogenic) Type 3 Blood tests Blood sugar level Glycosylated hemoglobin Glucose tolerance test Postprandial glucose test Fructosamine Glucose test C-peptide Noninvasive glucose monitor Insulin tolerance test Management Diabetic diet Anti-diabetic drugs Insulin therapy intensive conventional pulsatile Cure Embryonic stem cells Artificial pancreas Other Gastric bypass surgery Complications Diabetic comas Hypoglycemia Ketoacidosis Hyperosmolar hyperglycemic state Diabetic foot ulcer Neuropathic arthropathy Organs in diabetes Blood vessels Muscle Kidney Nerves Retina Heart Diabetic skin disease Diabetic dermopathy Diabetic bulla Diabetic cheiroarthropathy Neuropathic ulcer Hyperglycemia Hypoglycemia Other Glossary of diabetes History of diabetes Notable people with type 1 diabetes This cutaneous condition article is a stub .

Intellectual Developmental Disorder, Autosomal Recessive 71 Omim

The patients, who ranged in age from 5 to 28 years, presented in the first years of life with global developmental delay, mildly delayed walking, impaired intellectual development (IQ of 1 patient was 52 at age 12 years), and very poor language.

Uridine-Cytidineuria Omim

INHERITANCE - Autosomal recessive METABOLIC FEATURES - Uridine-cytidineuria LABORATORY ABNORMALITIES - Elevated uridine and cytidine in urine MISCELLANEOUS - 'Nondisease' - Incidental finding - Based on a report of 3 individuals, 2 of whom had a second, complex phenotype (last curated June 2019) MOLECULAR BASIS - Caused by mutation in the solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 gene (SLC28A1, 606207.0001 ) ▲ Close

Mungan Syndrome Omim

Two brothers and a sister, ages 26, 28, and 30 years, respectively, who had recurrent abdominal pain and pseudoobstruction from childhood, underwent upper endoscopy that revealed long-segment Barrett esophagus, hypomotility, and delayed gastric emptying.

RAD21, TXNDC15, UTP23, ORC1, CDC6, CDC45, GMNN, MGS, GH1, IGF1, MCM5, PAX6, PLXNA2, CASK, ORC6

Infantile Liver Failure Syndrome 2 Omim

Seven of the mutations were predicted to result in a loss of function, and all remaining missense mutations or in-frame deletions were clustered in 2 regions in the first half of the gene: exons 8 to 12 encoding the quinoprotein amine dehydrogenase beta-chain-like domain, and exons 21 to 28 encoding the secretory pathway sec39 domain.

NBAS, MARS1