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329 Possible Causes for Onset at Birth or in Early Childhood, Tortuous Lymphatic Tracts

  • Lymphatic Malformation Type 4

    […] at birth or in early childhood two unrelated families have been reported (last curated july 2014) Classifications: Summaries for Lymphatic Malformation 4 UniProtKB/Swiss-Prot[] […] uptake and drainage tortuous lymphatic tracts evidence of lymphatic rerouting Clinical features from OMIM: 615907 Drugs & Therapeutics for Lymphatic Malformation 4 Genetic[] Hereditary, 1d 76 Hereditary Lymphedema Id 76 Lmph1d, Formerly 58 Lmphm4 58 Lmph1d 76 Characteristics: OMIM: 58 Inheritance: autosomal dominant Miscellaneous: variable severity onset[]

  • Long QT Syndrome 15

    エントリ H00720 名称 QT 延長症候群 下位グループ ロマノワード症候群 ジャーベル・ランゲ・ニールセン症候群 [DS: H02091 ] 概要 QT 延長症候群は心電図の QT 間隔の異常な延長と失神発作を示す心血管障害である。他の疾患や薬物の影響で起こる後天性と、心筋細胞のイオンチャネルをコードする遺伝子の異常による先天性がある。発作のないときは無症状であるが、発作時はトルサド・ド・ポアンツ (Tdp) と呼ばれる心室性不整脈を特徴とし、適切な医療処置を行わないと心室細動に移行して死亡することもある。QT[…][]

    Missing: Tortuous Lymphatic Tracts
  • Cesarean Section

    […] and support in early childhood are developed and provided for these potentially vulnerable children.[] Nevertheless, there are instances where the spontaneous onset of labor occurs before 39 weeks or planned birth is unavoidable, and it is important that appropriate interventions[]

    Missing: Tortuous Lymphatic Tracts
  • Neuronal Ceroid Lipofuscinosis Type 10

    幼児期および晩期乳児期の神経型のセロイドリポフスノーゼ(NCL)は、中枢神経系(CNS)に影響を及ぼすリソソーム蓄積症である。乳児型のNCL(INCL)はPPT1遺伝子の突然変異によって誘導され、後期乳児NCL(LINCL)はTPP1遺伝子の突然変異によっておきる。 PPT1またはTPP1酵素機能の欠損は、患者細胞において病理学的なリポフスチン様物質のリソソーム蓄積をもたらす。現在、NCLsには小分子の薬物治療は存在しない。[…][]

    Missing: Tortuous Lymphatic Tracts
  • Essential Tremor

    Unlike Parkinson’s, where the onset of the condition is rare before age 55, Essential Tremor can present at birth or during early childhood.[]

    Missing: Tortuous Lymphatic Tracts
  • Schizophrenia

    Although schizophrenia rarely manifests in early childhood, childhood factors influence disease onset in adulthood.[] These factors include Genetic predisposition Intrauterine, birth, or postnatal complications Viral CNS infections Childhood trauma and neglect Although many people with schizophrenia[]

    Missing: Tortuous Lymphatic Tracts
  • Psychomotor Retardation

    Type i (classical; csa) is early childhood onset in the second year of life; type ii (congenital; csb) is early onset at birth with severe symptoms; type iii (xeroderma pigmentosum[] ; xp) is late childhood onset with mild symptoms.[] Cockayne syndrome is classified by the severity and age of onset.[]

    Missing: Tortuous Lymphatic Tracts
  • Neonatal Adrenoleukodystrophy

    Clinical description NALD has an onset at birth or early infancy, but manifestations may be subtle enough that it is not diagnosed until late infancy or early childhood (or[]

    Missing: Tortuous Lymphatic Tracts
  • Blue Rubber Bleb Nevus Syndrome

    The lesions are often present from birth or early childhood[ 6, 7 ]. The onset of the disease could be traced in 68% (82/120) of the patients reviewed.[] Epidemiology BRBNS primarily presents at birth or in infancy and early childhood, although later onset has been reported.[] Among these 82 patients, 30% had BRBNS from birth, in 9% BRBNS started during infancy, in 48% BRBNS started in childhood, in 9% BRBNS started during adolescence, and in 4%[]

    Missing: Tortuous Lymphatic Tracts
  • Intestinal Infarction

    Although more common in early childhood, the age at onset of symptoms ranges from birth to the 6th decade. 1 The disease is classified into two types, type I (glycolic aciduria[]

    Missing: Tortuous Lymphatic Tracts

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