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2,224 Possible Causes for Hypertrichosis of Eyebrows, Mutation in the MLL Gene, Recurrent Pneumonia

  • Wiedemann-Steiner Syndrome

    […] aspiration pneumonia Decerebrate rigidity Deep palmar crease Deep philtrum Thick upper lip vermilion Duodenal atresia Progressive spastic paraplegia Infantile spasms Abnormality[mendelian.co] 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] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Small-Cell Carcinoma of the Lung

    pneumonia, and chest wall pain.[mskcc.org] […] amplification seen in FGFR1, MYCL, E2F2, and CCN2 genes Gene mutation seen in CREBBP, EP300, MLL, PTEN, SLIT2, and EPHA7 genes And gene inactivation seen in TP53 and RB1[dovemed.com] pneumonia Some people also may develop pain in the chest wall.[mskcc.org]

    Missing: Hypertrichosis of Eyebrows
  • Alpha-Mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[…][en.wikipedia.org]

    Missing: Mutation in the MLL Gene
  • Acute Myelocytic Leukemia

    Upper respiratory infection or pneumonia and gingivitis/stomatitis are most frequently reported.[symptoma.com] 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] 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
  • Myelodysplasia

    Organizing pneumonia (OP) is characterized by non-specific inflammation associated with alveolar opacities on the radiographs that are low density, migratory, recurrent and[em-consulte.com] Prior treatment with chemo- or radiotherapy brings about genetic alterations that primarily include MLL gene.[symptoma.com] Localized forms and presentations with diffuse interstitial pneumonia similar to fibrosis have also been reported [ 55 ].[em-consulte.com]

    Missing: Hypertrichosis of Eyebrows
  • 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] Many of these gene mutations figure importantly in the revised WHO classification.[doi.org] Three outlier samples contained 51, 36, and 35 tier 1 mutations; none of these samples contained mutations in known DNA-repair genes.[nejm.org]

    Missing: Hypertrichosis of Eyebrows
  • Hodgkin Lymphoma

    Pneumonia, cytomegalovirus, aspergillus (a type of fungus), and Pneumocystis jiroveci (a fungus) are among the most serious life-threatening infections.[mountsinai.org] gene.[ncbi.nlm.nih.gov] Many people develop severe herpes zoster virus infections (shingles) or have a recurrence of herpes simplex virus infections (cold sores and genital herpes).[mountsinai.org]

    Missing: Hypertrichosis of Eyebrows
  • Congenital Neutropenia

    Untreated patients may suffer from chronic gingivitis, oral ulcers, skin abscesses, recurrent pneumonia, or septicemia [1].[file.scirp.org] 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] Congenital neutropenia renders the patient very susceptible to infectious diseases, which manifests in form of recurrent, severe pneumonia, dermatitis, stomatitis and periodontitis[symptoma.com]

    Missing: Hypertrichosis of Eyebrows
  • Ataxia Telangiectasia

    Recurrent sinopulmonary infections lead to recurrent pneumonia, bronchiectasis, and chronic restrictive pulmonary disease.[msdmanuals.com] Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement.[ncbi.nlm.nih.gov] pneumonia No Did not tolerate GT feedings, pneumonia, and respiratory failure, 2 F 25 0 -1.10 53 Yes: P Not Done Not Done Nutrition (10 lb weight loss/1 yr), dysphagia, chronic[doi.org]

    Missing: Hypertrichosis of Eyebrows
  • Gastroesophageal Reflux Disease

    Some of these atypical symptoms may include: Laryngitis-Chronic Cough-Hoarseness or Voice Disturbances Bronchitis and/or Asthma Recurrent Pneumonia Sleep Apnea Acid erosion[stretta-therapy.com] pneumonia Pain while swallowing Dental erosion Diagnosis and Treatment Gastroenterologists, doctors who specialize in digestive disorders, generally treat GERD symptoms prior[innerbody.com] […] stomach acids produces additional symptoms, including: Stomach and chest pain Nausea and vomiting Chronic cough Sore throat, hoarseness, or laryngitis Wheezing Asthma and recurrent[innerbody.com]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene

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