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11 Possible Causes for All Reported Mutations Have Occurred De Novo, Alopecia, Pediatric Disorder

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  • Dystrophic Epidermolysis Bullosa

    It groups skin diseases and lesions with other disorders and with systemic diseases, drug-related diseases, malignancies, and special conditions (nutritional disorders, pregnancy[books.google.com] […] dysplasia-skin fragility syndrome is a rare disorder characterized by skin erosions, skin fragility and peeling beginning at birth or infancy that may be accompanied by alopecia[raregeneticdisorder.blogspot.com] All cases with localised DDEB have not necessarily been documented or registered in DEB databases and therefore those mutation reports are limited.[medicaljournals.se]

  • Hypopituitarism

    Bode HH: Disorders of posterior pituitary; in Kaplan SA (ed): Clinical Pediatric Endocrinology. Philadelphia, Saunders, 1990, pp 63–86.[oadoi.org] All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org] J Pediatr 2002;140:252–255. Blotner H: Primary or idiopathic diabetes insipidus: a system disease. Metabolism 1958;3:191–200.[oadoi.org]

  • Cerebro-Costo-Mandibular Syndrome

    A new familial developmental disorder. Arch Dis Chil 45: 421 Google Scholar 4.[link.springer.com] Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia[icd9data.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com]

  • Optic Atrophy

    George's Healthcare NHS Trust, London, UK. 17 VMP Genetics, LLC, Atlanta, Georgia, USA. 18 University of Georgia, Athens, Georgia, USA. 19 Center for Rare Childhood Disorders[ncbi.nlm.nih.gov] Growth retardation-alopecia-pseudoanodontia-optic atrophy (GAPO) syndrome (Online Mendelian Inheritance in Man [OMIM] ID 230740) is one of the rarest autosomal recessive syndromes[ncbi.nlm.nih.gov] Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov]

  • Helsmoortel-van der Aa Syndrome

    Curr Opin Pediatr 14(6):678-83, 2002. 57. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136-9, 2007. 58. Greenberg F.[siicsalud.com] Some associated features have been noted and include alopecia, hearing loss, spastic paraplegia, myopathy, ichthyosiform dermatoses, and nail abnormalities. [1], [2], [3][ijdvl.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com]

  • Anophthalmia - Microphthalmia Syndrome

    Strongly associated with chromosome abnormalities and single-gene disorders. Karyotype is indicated.[mhmedical.com] Pituitary hypoplasia, ACC, absence of septum pellucidum 601802 182230 IKBKG Incontinentia pigmenti XL MAC 3 Retinal neovascularization Skin lesions change w/age; hypodontia, alopecia[ncbi.nlm.nih.gov] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org]

  • Geleophysic Dysplasia

    Diagnosis of this disorder is based on clinical and radiographic criteria. Until now only 60 cases have been reported in the literature.[bone-abstracts.org] Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia[icd9data.com] All reported mutations have occurred as new (sporadic or de novo ) mutations, which means that in these cases the gene mutation has occurred at the time of the formation of[rarediseases.org]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    Familial juvenile nephronophtisis, Jeune’s syndrome, and associated disorders.[dergipark.ulakbim.gov.tr] […] of Long nose (or similar symptoms) may include: 4 Acromegaloid facial appearance syndrome (Long nose) Alagille syndrome type 1 (Long nose) Alagille syndrome (Long nose) Alopecia-contractures-dwarfism-intellectual[familydiagnosis.com] reported mutations have occurred de novo MOLECULAR BASIS: Caused by mutation in the nonselective sodium leak channel gene (NALCN, 611549.0004) Description The large number[findzebra.com]

  • Anophthalmia or Microphthalmia - Esophageal Atresia Syndrome

    Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine[imedpub.com] […] isolated hyperparathyroidism Familial parathyroid adenoma Familial platelet syndrome with predisposition to acute myelogenous leukemia Fibrosarcoma Frontonasal dysplasia with alopecia[csbg.cnb.csic.es] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org]

  • Congenital Fibrosis of Extraocular Muscles Type 3A

    Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[books.google.com] […] disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alpers-Huttenlocher syndrome Alpha-B crystallin-related[se-atlas.de] A mutation screen involving 29 unrelated families revealed that 13 had eight TUBB3 pathogenic variants and all occurred de novo (Tischfield et al. 2010).[preventiongenetics.com]

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