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6,116 Possible Causes for Hypertrichosis of Eyebrows, Mutation in the MLL Gene, Pediatric Disorder

  • Wiedemann-Steiner Syndrome

    Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[news-medical.net] Previously: A look at one woman's long journey to diagnosis and treatment of a rare disorder , Developing a Google-like search system to improve diagnosis, treatment of pediatric[scopeblog.stanford.edu] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Fucosidosis

    Pediatr Radiol 2007;37:1050-2. 8. Sanklecha MU, Kher A, Naik GG, Bharucha BA, Mahajan P. Storage disorders presenting like mucopolysaccharidosis.[pediatricneurosciences.com] Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[books.google.de] J Pediatr Neurosci 2014;9:156-8 Fucosidosis is a rare lysosomal storage disorder, which is inherited in autosomal recessive pattern due to deficient activity of the enzyme[pediatricneurosciences.com]

    Missing: Mutation in the MLL Gene
  • Alpha-Mannosidosis

    Disorders E-2903 168 Measurement of Health Outcomes in Pediatric Neurologic Disorders E-2910 169 The Influence of Computer Resources on Child Neurology E-2918 170 Education[books.google.es] Pediatrics, 114, 909-916. [2] Meikle, P., Hopwood, J., Clague, A., & Carey, W. (1999). Prevalence of lysosomal storage disorders.[oncofertility.northwestern.edu] Lysosomal storage disorders in the newborn. Pediatrics. 2009 Apr. 4:1191-207. [Medline]. [Full Text]. Uz E, Cipil H, Turgut FH, Kaya A, Kargili A, Bavbek N, et al.[emedicine.medscape.com]

    Missing: Mutation in the MLL Gene
  • Leukemia

    For example, PML-RARA, MYH11-CBFB, and MLL -containing fusion genes were mutually exclusive of mutations in NPM1 and DNMT3A (P RUNX1 and TP53 mutations were mutually exclusive[nejm.org] […] oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.[theguardian.com] Leukemia is the most common form of pediatric cancer. It affects approximately 3,250 children each year in the US, accounting for about 30 percent of childhood cancers.[childrensnational.org]

    Missing: Hypertrichosis of Eyebrows
  • Acute Myelocytic Leukemia

    They include internal tandem duplication of the FLT3 gene, partial tandem duplication of the MLL gene, mutations of the CEBPA and NPM1 genes and aberrant expression of the[ncbi.nlm.nih.gov] Hasle H: Myelodysplastic and myeloproliferative disorders in children. Curr Opin Pediatr 19 (1): 1-8, 2007.[northshore.org] These genes include FLT3, IDH1, IDH2, and MLL. Targeted therapies often have fewer side effects than conventional chemotherapy drugs.[mskcc.org]

    Missing: Hypertrichosis of Eyebrows
  • Congenital Neutropenia

    Molecular analyses for SCN causing mutations (ELA-2, HAX-1 and G6PC3) and for somatic mutations of the CSF3R gene were negative.[ncbi.nlm.nih.gov] Falk PM, Rich K, Feig S, Stiehm ER, Golde DW, Cline MJ (1977) Evaluation of congenital neutropenic disorders by in vitro bone marrow culture.[link.springer.com] This case report emphasizes the role of periodontists and pediatric dentists in the diagnosis of diseases linked with neutrophil and other systemic disorders and highlights[ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows
  • Acute Leukemia

    gene and biallelic mutations in SETD2 (encoding a histone H3K36 methyltransferase).[ncbi.nlm.nih.gov] Overall, patients with Down syndrome compose approximately 10% of pediatric patients with AML.[clinicaladvisor.com] For patients with suspected or confirmed ALL, the pathologist or treating clinician may order appropriate mutational analysis for selected genes that influence diagnosis,[hematology.org]

    Missing: Hypertrichosis of Eyebrows
  • Acute Gastroenteritis

    Seventy children with acute gastroenteritis and their parents completed the Rome III Diagnostic Questionnaire for Pediatric Functional GI Disorders and the Children's Somatization[ncbi.nlm.nih.gov] Rotavirus gastroenteritis: precursor of functional gastrointestinal disorders?. J Pediatr Gastroenterol Nutr . 2009 Nov. 49(5):580-3. [Medline] .[emedicine.medscape.com] Use of probiotics in childhood gastrointestinal disorders. J Pediatr Gastroenterol Nutr 1998;27:323--32. Guandalini S, Pensabene L, Zikri MA, et al.[cdc.gov]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Vitamin D Deficiency

    Hypocalcemic and hypercalcemic disorders in children . Current Problems in Pediatrics, Vol. 19, Issue. 10, p. 497. CrossRef Google Scholar Poskitt, E.M.E. 1988.[doi.org]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Ataxia Telangiectasia

    Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement.[ncbi.nlm.nih.gov] […] all neurosurgical conditions of infants, children and adolescents, with special expertise in the management of pediatric brain tumors, hydrocephalus, spinal cord disorders[massgeneral.org] Pediatric patients may develop acute lymphoblastic leukemia (ALL). However development of ALL in an adult patient with AT is a rare occurrence.[ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows