Group of diseases

Articles

• congenital eye defects
  25 November 2003

  References
  Graw J. The genetic and molecular basis of congenital eye defects. Nat Rev Genet. 2003 Nov;4(11):876-88. PMID: #14634635#

• retinitis pigmentosa
  20 October 2003

  RP

• porphyrias
  4 February 2006

  porphyria

• lymphatic anomalies of development
  7 July 2003

  lymphatic malformations

• congenital angiodysplasias
  12 November 2003

  congenital angiodysplastic syndromes, vascular malformation syndromes

• angiodysplasias
  3 October 2003

  Classification
  hereditary hemorrhagic telangiectasia.

• vascular dysplasias
  25 July 2003

  congenital vascular syndromes, vascular malformations
  NB: We prefer the term "vascular dysplasias" for "vascular malformations" because of the risk of confusion with the malformations of vessels (vascular malformations).
  Digital cases
  HPC:423 : Small complex vascular malformation
  Types
  capillary malformations
  cerebral capillary malformation
  cutaneous capillary malformation ("port-wine stain")
  venous malformations
  arteriovenous malformations(arteriovenous fistula)
  glomus (...)

• PKD1L1-associated heterotaxy
  21 November 2003

  lateralization defects, anomalies of body asymmetry, defects in situs orientation; laterality defects;situs anomalies
  Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy ).
  The genetic causes of laterality defects in humans are highly heterogeneous.
  The identification of bi-allelic PKD1L1 mutations recapitulates previous findings regarding phenotypic consequences of loss of function (...)

• 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 (...)

• chromosomal instability syndromes
  19 November 2003

  chromosomal breakage syndromes, cancer-predisposing chromosomal instability syndromes

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