Group of diseases

Articles

• sagittal craniosynostosis
  21 November 2003

  See also
  craniosynostoses

• Hedgehog-signaling related diseases
  25 November 2003

  Hh-signaling related diseases

• heterotaxy
  11 November 2003

  lateralization defects, anomalies of lateralization, situs anomalies, heterotaxies, heterotaxia, heterotaxy, laterality disorders, heterotaxies
  Definition: Heterotaxia (MIM.606325) is a group of congenital disorders characterized by a misplacement of one or more organs according to the left-right axis. It occurs in 1/10000 newborns and is often accompanied by severe organ malformations.
  Types
  situs inversus (or situs inversus totalis)
  situs ambiguus
  isomerisms (cardiac isomerism, (...)

• porphyrias
  4 February 2006

  porphyria

• anomalies of plasmalogens biosynthesis
  9 June 2003
• dyslipidemias
  3 July 2003
• ectodermal dysplasias
  20 November 2003

  Types
  X-linked anhidrotic ectodermal dysplasia
  APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy)
  Features
  anomalies of epithelial development (epithelial organogenesis)
  References
  Itin PH, Fistarol SK. Ectodermal dysplasias. Am J Med Genet. 2004 Nov 15;131C(1):45-51. PMID: #15468153#
  Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, Casanova JL, Israel A. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to (...)

• gestational trophoblastic diseases
  18 November 2003

  gestational trophoblastic disorders, GTDs
  Definition: Gestational trophoblastic disease encompasses several disease processes that originate in the placenta. These include complete and partial moles, placental site trophoblastic tumors, choriocarcinomas, invasive moles, epithelioid trophoblastic tumor (ETT).
  Types
  hydatiform mole complete hydatiform mole partial hydatiform mole invasive hydatiform mole
  placental site trophoblastic tumors
  choriocarcinomas
  epithelioid (...)

• connective tissue diseases
  17 November 2003

  connective tissue disorders

• osteodysplasias
  6 October 2003

  bone dysplasias

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