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5,085 Possible Causes for 1 BP, Chediak Higashi, CHILDHOOD, INS, SYNDROME,, TYPE

  • DiGeorge Syndrome

    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] Diseases & Conditions Chediak-Higashi syndrome Chediak-Higashi syndrome is a rare disease of the immune and nervous systems.[mountsinai.org] The objective of our study was to report the clinical presentation of DGS in the post-childhood period.[ncbi.nlm.nih.gov] This is the first report of a patient with partial DGS presenting with APS and type III mixed cryoglobulinemia possibly due to Streptococcal infection.[ncbi.nlm.nih.gov] (8;10) (8pter 8q13::10p15-- 10p14::8q24.1-- 8qter) ins(10:8) (10pter-- 10p15::8q24.1-- 8q13::10p14-- 10qter).[ncbi.nlm.nih.gov] Chromosome and FISH studies showed the association of mosaic type trisomy 21 and 22q11.2 microdeletion.[ncbi.nlm.nih.gov]

    Missing: 1 BP
  • Rieger Syndrome

    The first mutation that was found comprises a 1-bp deletion within exon 3 at position 690 of the PITX2 gene.[journals.lww.com] Abstract A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of[ncbi.nlm.nih.gov] Higashi syndrom * - NGS genpanel Cornelia de Lange Syndrom * - NGS genpanel Cri du chat syndrom * DFNB1 (Connexin 26) * - NGS genpanel DiGeorge syndrom * Dystoni - NGS genpanel[kennedy.dk] While your ophthalmologist will be the one to definitively diagnose and treat childhood glaucoma, parents are the key to early diagnosis and treatment.[glaucoma.org] Diseases Eye Diseases Corneal Diseases Corneal Opacity AXENFELD-RIEGER SYNDROME, TYPE 1 11.[ctdbase.org] These mutations included two nonsense mutations (E55X and Y121X), an eight nucleotides insertion (1251 ins CGACTCCT) and a substitution (F58L), in familial and sporadic cases[ncbi.nlm.nih.gov]

  • Tangier Disease

    In the first pedigree, a 1-bp deletion in exon 13, resulting in truncation of the predicted protein to approximately one-fourth of its normal size, co-segregated with the[ncbi.nlm.nih.gov] PATIENT: A 15-year-old girl had subacute onset of asymmetric neuropathy with persistent conduction block, resembling Lewis-Sumner syndrome.[ncbi.nlm.nih.gov] syndrome.[ncbi.nlm.nih.gov] […] or adolescence, and a syringomyelia-like syndrome with facial diplegia in adults with a past history of tonsillectomy in childhood.[orpha.net] The most severe form (type III) with a syringomyelia-like syndrome has been described in three cases only. Here, a fourth case of this type is presented.[ncbi.nlm.nih.gov] A variant in intron 8 (c.814 -14 ins A), identified in subjects with low HDL, had no effect on ABCA1 pre-mRNA splicing.[ncbi.nlm.nih.gov]

  • Non-Hodgkin Lymphoma

    Abstract Hepatic sinusoidal obstruction syndrome (SOS), a serious complication that mainly occurs after hematopoietic-stem cell transplantation (HSCT), is caused by damage[ncbi.nlm.nih.gov] Common diseases or exposures increasing the risk of Non-Hodgkin lymphoma are listed below: Inherited immunodeficiency disease: Klinefelter’s syndrome, Chediak-Higashi syndrome[symptoma.com] To access information about coping with childhood cancer, click here . Click here for childhood NHL statistics.[llscanada.org] However, there are other types.[patient.info] HLA-G 14bp ins/del gene polymorphism was determined by PCR.[ncbi.nlm.nih.gov] Abstract Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem[ncbi.nlm.nih.gov]

    Missing: 1 BP
  • Albinism

    PLOS ONE 9(1):e84494 CrossRef PubMed PubMedCentral 16.[springermedizin.de] The pathoetiology and treatment of Woakes' syndrome as well as of albinism were discussed.[ncbi.nlm.nih.gov] Chediak-Higashi syndrome Chediak-Higashi syndrome is another rare form of albinism that’s the result of a defect in the LYST gene.[healthline.com] Prognosis The disease is not life threatening and stabilizes after childhood. However, the medical and social consequences can have an impact on patient's daily life.[orpha.net] All four types of OCA are inherited as autosomal recessive disorders.[ncbi.nlm.nih.gov] To determine if this manifests in extraocular muscle innervation, specimens from children with idiopathic INS or INS and albinism were examined and compared to normal age-matched[ncbi.nlm.nih.gov]

  • Usher Syndrome

    RESULTS: This analysis revealed the presence of a novel homozygous 5-bp deletion, in Clarin 1 (CLRN1), a known gene responsible for Usher syndrome type III.[ncbi.nlm.nih.gov] Usher syndrome exists in three types with type 1 patients being the most severely affected, whilst type 2 and 3 represent moderate and mild entities of this syndrome, respectively[symptoma.com] […] old woman with hearing impairment diagnosed at the age of 3 months and progressive pigmentary retinopathy diagnosed at the age of 19 years, has been treated for ADHD in childhood[ncbi.nlm.nih.gov] These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired[ncbi.nlm.nih.gov] She was found to be heterozygous for a novel insertion mutation c.3847_3848 ins TCTG (p.N1285LfsX24) in exon 30 and for the known mutation c.2239_2240delAG (p.R747S fsX16)[ncbi.nlm.nih.gov] RESULTS: All participants reported that visual and auditory symptoms began in childhood.[ncbi.nlm.nih.gov]

    Missing: Chediak Higashi
  • Melphalan

    […] neurologic condition of POEMS syndrome.[bloodjournal.org] Systemic 1 2RecruitingTreatment Autoimmune Diseases / Autoimmune Disorders 1 2RecruitingTreatment Autoimmune Lymphoproliferative Syndrome / Bruton's agammaglobulinemia / Chediak-Higashi[drugbank.ca] The patient was diagnosed as multiple myeloma (Bence Jones k type) with light chain deposition disease (LCDD).[ncbi.nlm.nih.gov] Examples of melphalan in a Sentence First Known Use of melphalan 1968, in the meaning defined above History and Etymology for melphalan probably from me thano l ph enyl alan ine[merriam-webster.com] type Research Support, Non-U.S.[ncbi.nlm.nih.gov] Myeloablative therapies, such as high-dose melphalan, should definitely be considered as a treatment option for AL amyloidosis, irrespective of the type of precursor immunoglobulin[ncbi.nlm.nih.gov]

    Missing: 1 BP
  • Interstitial Lung Disease

    syndrome.[ncbi.nlm.nih.gov] […] disorders caused by smoking in adults may occur with passive smoking in childhood.[pediatrics.aappublications.org] Diseases of the connective tissues are the classic example of this type.[news-medical.net] The ins and outs of interstitial lung diseases. What Is ILD?[integrisok.com] Abstract Antisynthetase syndrome is characterized by the presence of anti-aminoacyl-tRNA synthetase antibodies and characteristic clinical features.[ncbi.nlm.nih.gov] Interstitial lung disease comes in more than 200 different types.[healthline.com]

    Missing: 1 BP Chediak Higashi
  • Mental Retardation

    The 1 bp duplication causes a frameshift and nonsense-mediated decay.[ncbi.nlm.nih.gov] Sequencing of the AAAS gene causing autosomal recessive Triple A syndrome did not reveal mutations.[ncbi.nlm.nih.gov] Guiding Childhood Development Caring for Pediatric Behavioral Issues You want your kids to have happy, healthy lives, and an individual path to call their own.[floridahospital.com] KEYWORDS: NTRK1; genotype-phenotype correlation; hereditary sensory and autonomic neuropathy type IV; mutation[ncbi.nlm.nih.gov] The chromosome complement was interpreted as 46,XY, inv ins(1;2)(q44;p12pter). Parents were phenotypically normal with no chromosomal anomalies.[ncbi.nlm.nih.gov] A longitudinal clinical course beginning in childhood revealed excessive weight gain, poor language skills and poor school performance.[ncbi.nlm.nih.gov]

    Missing: Chediak Higashi
  • Chediak Higashi Syndrome

    […] in English, Portuguese] Author information 1 Departamento de Dermatologia, Universidade Federal de São Paulo, Brasil. [email protected] Abstract Chediak-Higashi syndrome[ncbi.nlm.nih.gov] Chediak Higashi syndrome is a genetic disorder inherited in an autosomal recessive manner. It is rare with only 500 reported cases around the world.[symptoma.com] Most patients present in early childhood and die unless treated by bone marrow transplantation.[ncbi.nlm.nih.gov] This supports the allelic heterogeneity of CHS and is in line with most reported mutation types that lead to a truncated protein.[ncbi.nlm.nih.gov] Ines Sicgmund G., Dr. Luis Norambucna M., Dra. Teresa Bilbao M. y Dr. Claudio Zapata O. Palabras Claves: síndrome de Chediak - higashi . Keywords : Chediak – Higashi .[scielo.cl] Amyloid deposits, which have not been reported previously in human Chediak-Higashi syndrome, were systemically noted and were immunohistochemically revealed to be AA type[ncbi.nlm.nih.gov]

    Missing: 1 BP