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4,430 Possible Causes for 1 BP, 2620T, Chediak Higashi, CHILDHOOD, DEL,, SYNDROME,, TYPE

  • Griscelli Syndrome, Type 1

    .; Del Bianco, P.; Petrara, M.R.; Freguja, R.; Rampon, O.; Fortuny, C.; Camós, M.; Mozzo, E.; Giaquinto, C.; De Rossi, A.Article 2016 Tuberculosis en el adolescente; reto[portalrecerca.csuc.cat] 17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com] […] hemophagocytic syndrome * Pancytopenia - due to hemophagocytic syndrome * Fever - due to hemophagocytic syndrome * Jaundice - due to hemophagocytic syndrome * Neurological[checkorphan.org] Chediak-Higashi Syndrome; CHS. Entry Number; 214500: Available at Last Edit Date 10/07/2013. Accessed June 16, 2015. Brooks DG. Chediak-Higashi syndrome.[rarediseases.org] Untreated, most children with Griscelli syndrome die in early childhood. What is the cause of Griscelli syndrome ?[dermnetnz.org] Phenotype characteristics : Les souris -/- sont grises, Les souris /- et sauvages sont noires Genetic modifications (1)[transgenose.cnrs-orleans.fr] He was born of consanguineous parents and three of his elder siblings, who died in early childhood, had similar colored hair.[ijdvl.com]

    Missing: 2620T
  • Axenfeld-Rieger Syndrome Type 3

    Phillips JC, del Bono EA, Haines JL, Pralea AM, Cohen JS, Greff LJ, Wiggs JL. A second locus for Rieger syndrome maps to chromosome 13q14.[ghr.nlm.nih.gov] Primers are listed in Table 1 .[link.springer.com] Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome ) is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes[ipfs.io] ALFA1 ANTITRIPSINA RC0200 CAROLI MALATTIA DI RN0220 CARPENTER SINDROME DI RN1390 CEROIDO-LIPOFUSCINOSI RFG020 CHARGE ASSOCIAZIONE RN0850 CHAVANY-MARIE SINDROME DI RN0070 CHEDIAK-HIGASHI[atassia.org] Most cases are diagnosed during infancy or childhood; however, glaucoma typically occurs in late childhood or adulthood. 3,4 Defects in differentiation, migration, or arrested[eyewiki.aao.org] 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis Axenfeld Anomaly AXENFELD-RIEGER SYNDROME, TYPE 3 Rieger Syndrome, Type 3 Axenfeld-Rieger Anomaly[wikidata.org] European Journal of Human Genetics . 10 de junio del 2009; 17:1527–1539. . Axenfeld-Rieger syndrome. Orphanet . 2011; .[rarediseases.info.nih.gov]

    Missing: 2620T
  • Velocardiofacial Syndrome

    Abstract We report on an adolescent female with Velocardiofacial syndrome (del(22)(q11.2)) and an epilepsy phenotype resembling juvenile myoclonic epilepsy (JME).[ncbi.nlm.nih.gov] Description T-box 1 [Source:MGI Symbol;Acc: MGI:98493 ] Name Transcript ID bp Protein Translation ID Biotype CCDS UniProt RefSeq Flags Tbx1-203 ENSMUST00000232335.1 2511 488aa[ensembl.org] Abstract Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in common a high frequency of hemizygous deletions of chromosome 22q11.2.[ncbi.nlm.nih.gov] 267 Piebaldismus 719 268 Okulokutaner Albinismus mit Tyrosinase-Negativität Typ IA 721 269 Okulokutaner Albinismus mit Tyrosinase-Positivität 723 270 ABCD-Syndrom 725 271 Chediak-Higashi-Syndrom[fachzeitungen.de] The rate of 22q11 deletions was examined in a series of patients with childhood-onset schizophrenia (COS), in whom early premorbid developmental and cognitive impairments[ncbi.nlm.nih.gov] Awareness of the possibility of increased prevalence of ADHD in VCFS, particularly of the inattentive type, is important because it is likely to be overlooked by parents and[ncbi.nlm.nih.gov] […] patients with del(22)(q11.2) (P 0.0001, Fisher exact test).[ncbi.nlm.nih.gov]

    Missing: 2620T
  • Alstrom Syndrome

    Los metadatos del artículo han sido obtenidos de SciELO España[dialnet.unirioja.es] However, IGF-1 and IGF-BP-3 levels were normal in all three patients.[jmg.bmj.com] Alstrom syndrome is a rare genetic disorder with an autosomal recessive pattern of inheritance.[symptoma.com] ALFA1 ANTITRIPSINA RC0200 CAROLI MALATTIA DI RN0220 CARPENTER SINDROME DI RN1390 CEROIDO-LIPOFUSCINOSI RFG020 CHARGE ASSOCIAZIONE RN0850 CHAVANY-MARIE SINDROME DI RN0070 CHEDIAK-HIGASHI[asmaraonlus.org] Natural history of Alstrom syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr. 1996;128(2):225–9.[link.springer.com] […] well as the dual Carl Henry Alström 1907 to 1993 sensory loss and obesity. [1] The phenotype has subsequently been shown to include acanthosis nigricans, cardiomyopathy, type[diapedia.org] Bando per assegno di ricerca Descrizione del bando Titolo del progetto di ricerca in italiano An EU rare diseases registry for Wolfram Syndrome, Alstrom Syndrome and Bardet[bandi.miur.it]

    Missing: 2620T
  • Hermanski-Pudlak Syndrome

    RESULTS: Nearly 70% of the patients were homozygous for common Puerto Rican mutations leading to the HPS1 gene (16-BP DUP, 53.6%), while 30% had the 3904-BP DEL HPS3 gene[ncbi.nlm.nih.gov] Three other novel mutations in AP3B1 were identified, that is, a nonsense mutation c.716G A (p.Trp239Ter), a 1-bp and a 4-bp deletion c.177delA and c.1839_1842delTAGA, respectively[ncbi.nlm.nih.gov] Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding diatheses, and lysosomal accumulation of ceroid[ncbi.nlm.nih.gov] The LYST gene is know to be associated with Chediak-Higashi syndrome (CHS).[asperbio.com] […] a nonconsanguineous Caucasian family with two affected siblings (index patients) who presented with oculocutaneous albinism at birth and a mild bleeding phenotype during childhood[ncbi.nlm.nih.gov] PURPOSE: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex[ncbi.nlm.nih.gov] CICLO DELL\’UREA RCG050 DISTURBI DEL METABOLISMO E DEL TRASPORTO DEGLI AMINOACIDI RCG040 DISTURBI DEL METABOLISMO E DEL TRASPORTO DEI CARBOIDRATI Escluso: Diabete mellito[asmaraonlus.org]

    Missing: 2620T
  • Oculocutaneous Albinism

    Straniero L 1 , Rimoldi V 2, 3 , Soldà G 2, 3 , Mauri L 4 , Manfredini E 4 , Andreucci E 5 , Bargiacchi S 6 , Penco S 4 , Gesu GP 4 , Del Longo A 7 , Piozzi E 7 , Asselta[ncbi.nlm.nih.gov] Furthermore, transcripts for TRP-1 were absent in cultured OCA melanocytes.[ncbi.nlm.nih.gov] Additionally, there are also syndromic forms of albinism such as Hermansky-Pudlak syndrome and Chediak-Higashi syndrome .[asperbio.com] Marked iris translucency present in early childhood decreases as the iris becomes more pigmented with age. No neurologic or mental abnormalities have been noted.[wohproject.org] All four types of OCA are inherited as autosomal recessive disorders.[ncbi.nlm.nih.gov] Letizia Straniero, Valeria Rimoldi, Giulia Soldà, Lucia Mauri, Emanuela Manfredini, Elena Andreucci, Sara Bargiacchi, Silvana Penco, Giovanni P Gesu, Alessandra Del Longo,[doi.org] Vision loss into the range of 20/100-20/200 does not progress after early childhood but is sometimes as good as 20/30.[disorders.eyes.arizona.edu]

    Missing: 2620T
  • Oculocutaneous Albinism, Type 2

    Descripción del exámen: ALBANISMO OCULO-CUTANEO TIPO IB, SECUENCIACION COMPLETA DEL GEN TYR Informacion clinica: EL ALBINISMO OCULOCUTÁNEO SE CARACTERIZA POR LA HIPOPIGMENTACIÓN[laboratorioechavarria.com] From left: lane 1: exon 11 (700 bp), lane 2: exon 1–2 (500 bp), lane 3: exon 1–3 (600 bp), lane 4: exon 1–4 (500 bp), Lane 5: DNA ladder (Thermo Scientific Gene Ruler 100[journals.plos.org] […] sclerosis 302 Management of craniofacial syndromes 315 Craniosynostosis syndromes 317 Less common syndromes 318 SaethreChotzen syndrome 323 Branchial arch and facelimb syndromes[books.google.de] […] deficiency ( E29.1 ) Metabolic disorders E70.32 ICD-10-CM Diagnosis Code E70.32 Oculocutaneous albinism 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes Chediak-Higashi[icd10data.com] This is in keeping with the natural history of OCA2, as gradual increase in pigmentation during childhood is commonly seen in OCA2 patients.[jmg.bmj.com] Resources - Oculocutaneous albinism type 2 Not supplied.[checkorphan.org] Mem Inst Franç Afr Noire, Centre du Cameroun, Douala, Cameroun Google Scholar Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V,[link.springer.com]

    Missing: 2620T
  • Familial Hemophagocytic Lymphohistiocytosis

    Analysis methods PLUS SEQ DEL/DUP Test code HE1001 Panel size Small CPT codes SEQ 81403 SEQ 81404 DEL/DUP 81479 SEQ 81479 Summary The Blueprint Genetics Hemophagocytic Lymphohistiocytosis[blueprintgenetics.com] To address the growing complexities of childhood cancer, Nathan and Oski’s Hematology and Oncology of Infancy and Childhood has now been separated into two distinct volumes[books.google.com] BACKGROUND: Mutations of PRF1 gene have been identified in familial hemophagocytic lymphohistiocytosis type-2 (FHL-2) patients, and it has been reported as the commonest gene[ncbi.nlm.nih.gov] This type of hearing loss should be considered among the long-term sequelea presenting with FHL5.[ncbi.nlm.nih.gov] […] instrument with 100 bp read lengths, in a modification of a procedure described by Pritchard et al. 2012 (1).[seattlechildrenslab.testcatalog.org] In a minority of cases, the condition manifests later in childhood or adulthood.[symptoma.com] Test Description Order Options: Sequencing Del/Dup Rush / STAT Exclude VUS MCC Duo/Trio Turnaround Time: 3 - 5 weeks Cost: Call for details Genes: PRF1, RAB27A, SH2D1A, STX11[fulgentgenetics.com]

    Missing: 2620T
  • Ehlers-Danlos Syndrome Type Progeroid

    FGFR3 Del Dup NGS Camurati-Engelmann disease TGFB1 Del Dup NGS Cantu syndrome ABCC9 Del Dup NGS Cantu syndrome NGS panel ABCC9, KCNJ8 Del Dup NGS Cantu syndrome, KCNJ8 related[ctgt.net] 17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com] Additional material has been added both in terms of new syndromes and in updating information on existing syndromes.[books.google.com] […] intermediate A Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Chediak-Higashi[rgd.mcw.edu] Galactosyltransferase I deficiency PDS XGPT deficiency Xylosylprotein 4-beta-galactosyltransferase deficiency Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood[orpha.net] Symptoms usually begin by childhood or adolescence.[rarediseases.info.nih.gov] In particular, apart from the usage of the wild type acceptor (allele 1), an alternative acceptor 3 bp downstream (allele 2), and the presence of a splice product with retention[ojrd.biomedcentral.com]

    Missing: 2620T
  • Autoimmune Polyglandular Syndrome Type I

    La región del brazo corto del cromosoma 6 que contiene los genes del MHC, posee la información de: ciertas glucoproteínas de la membrana plasmática involucradas en los mecanismos[es.slideshare.net] C.267-275del (p.Tyr90-Arg92del) [Table 1] .[jcor.in] Abstract Autoimmune polyglandular syndrome is characterized by a failure of multiple endocrine organs and the presence of circulating organ-specific autoantibodies targeted[ncbi.nlm.nih.gov] Cat-Eye-Syndrom ( Katzenaugen-Syndrom ) Ceelen-Gellerstedt-Syndrom Cerebro-okulo-fazio-skelletäres-Syndrom (COFS) Charcot-Marie-Tooth-Syndrom Charcot-Weiss-Baker-Syndrom Chediak-Steinbrinck-Higashi-Syndrom[krankheiten.de] Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis , hypoparathyroidism , and Addison disease .[rarediseases.info.nih.gov] The diagnosis of APS type I was made in a 16-year-old patient with HPT, Hashimato's thyroiditis and ACI in our department.[ncbi.nlm.nih.gov] Pena-Shokeir-Syndrom Typ II) Cervikalsyndrom Chanarin-Dorfman-Syndrom Charcot-Marie-Tooth-Syndrom Charcot-Weiss-Baker-Syndrom Charles-Bonnet-Syndrom Chediak-Steinbrinck-Higashi-Syndrom[schwingfeld.de]

    Missing: 2620T