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699 Possible Causes for Hypertrichosis of Eyebrows, Mutation in the MLL Gene, Recurrent Gastrointestinal Infections

  • 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] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

    Missing: Recurrent Gastrointestinal Infections
  • Alpha-Mannosidosis

    The molecular mechanisms behind the impairment of the immune systems are poorly understood, but recurrent infections mainly occur in the first decade of life.[symptoma.com] Immune-deficiency Recurrent infections is a main feature of the disease.[ismrd.org] In severe AM, repeated ear, respiratory, and gastrointestinal infections may be the presenting and dominating symptoms. Hepatomegaly is commonly diagnosed.[symptoma.com]

    Missing: Mutation in the MLL Gene
  • Autoimmune Gastritis

    Autoimmune metaplastic atrophic gastritis, also autoimmune gastritis [1] (abbreviated AIG ), is a rare pathology of the stomach. It is closely associated with pernicious anemia. Contents General Pathology: loss of parietal cells, gastric atrophy. Lab: classically considered to have macrocytic anemia ; however,[…][librepathology.org]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Acquired Hypertrichosis Lanuginosa

    Children with this disorder often have recurrent respiratory tract infections and gastrointestinal upsets; seizures have been observed in about 20% of reported cases, and[en.tzermias.gr] Hypertrichosis cubiti (hairy elbow syndrome) - AD 2. Hypertrichosis of the auricle - AD, YL 3. Hypertrichosis of the eyebrows - ? 4.[quizlet.com] Acquired hypertrichosis lanuginosa Patients with hypertrichosis lanuginosa acquisita grow lanugo-type (ie, fetal) Hair near their eyebrows and on their forehead, ears, and[codelay.com]

    Missing: Mutation in the MLL Gene
  • Hypertrichosis

    Children with this disorder often have recurrent respiratory tract infections and gastrointestinal upsets; seizures have been observed in about 20% of reported cases, and[en.tzermias.gr] 0004540 Double eyebrow Duplication of eyebrow 0010730 Showing of 9 Last updated: 12/1/2018 If you need medical advice, you can look for doctors or other healthcare professionals[rarediseases.info.nih.gov] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org]

    Missing: Mutation in the MLL Gene
  • Acute Myeloid Leukemia with Myelodysplasia-related Changes

    Patients suffering from symptomatic leukopenia are prone to infections and may present with recurrent infections of the skin, respiratory or gastrointestinal tract, among[symptoma.com] Poor-risk factors include deletion of 5q and 7q, trisomy 8, t(6; 9), t(9; 22), most translocations involving chromosome 11q23, and mutations of the MLL gene, a history of[northshore.org] Almost 30% of cases of acute monoblastic leukemia and 12% of cases of acute monocytic leukemia are associated with 11q23 genetic abnormalities involving the MLL gene.[northshore.org]

    Missing: Hypertrichosis of Eyebrows
  • Dursun Syndrome

    Increased susceptibility to infections is the clinical hallmark of SCN4, so DS patients may be expected to develop recurrent infections of the skin, ear, respiratory or gastrointestinal[symptoma.com] […] of the medial eyebrows (synophyrys), white forelock, heterchromia iridis, and deafness.[neoreviews.aappublications.org] Leukopenia with neutropenia and lymphopenia causes severe immunodeficiency and predisposes to infections.[symptoma.com]

    Missing: Mutation in the MLL Gene
  • Hereditary Neutrophilia

    Treatment involves the use of G-CSF in patients with recurrent infections, and the use of pancreatic enzyme supplements for the gastrointestinal insufficiency and steatorrhoea[europeanmedical.info] SETD2 mutations appear to be enriched among cases of acute leukemia with rearrangements of MLL.[pmkb.weill.cornell.edu] Coexistence of two mutations in SETD2 has been described and together with recurrent loss of function mutations suggest this gene is acts as a tumor suppressor.[pmkb.weill.cornell.edu]

    Missing: Hypertrichosis of Eyebrows
  • Autosomal Dominant Aplasia and Myelodysplasia

    […] respiratory infections Abnormality of the dentition Abnormality of skin pigmentation Epicanthus Acrania Pallor Lymphoma Ranula Osteoporosis Urethral stenosis Melanoma Neurofibromas[mendelian.co] Sequencing of FA patients with AA, MDS, or AML for genes recurrently mutated in MDS or AML revealed MLL-PTD mutations in 2 patients, and single patients with FLT3-ITD , NRAS[ash16.it] Carious teeth Anorexia Sporadic Premature loss of teeth Nail dystrophy Cerebellar atrophy Ridged nail Acute leukemia Hepatosplenomegaly Reticular hyperpigmentation Carcinoma Recurrent[mendelian.co]

    Missing: Hypertrichosis of Eyebrows
  • Congenital Generalized Hypertrichosis Type Ambras

    Children with this disorder often have recurrent respiratory tract infections and gastrointestinal upsets; seizures have been observed in about 20% of reported cases, and[en.tzermias.gr] ; presence of thick vellus hair on the upper extremities ( e.g hairy eyebrows ) • Localised hypertrichosis, • Nevoid hypertrichosis ; excessive terminal hair and is usually[impocity.blogspot.com] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org]

    Missing: Mutation in the MLL Gene

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