Group of diseases

Articles

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• allergy
  21 November 2003

  atopy, atopia, allergic inflammation

• congenital adrenal hyperplasia
  15 April 2005

  CAH, adrenogenital syndrome

• Hedgehog-signaling related diseases
  25 November 2003

  Hh-signaling related diseases

• fallopian tube diseases
  8 December 2003

  Classification
  congenital anomalies
  torsion, prolapse and intussusception
  endometriosis and endosalpingiosis
  salpingitis acute salpingitis chronic salpingitis granulomatous salpingitis tuberculous salpingitis actinomycosis parasitic salpingitis pinworm schistosomiasis
  salpingitis iathmica nodosa
  ectopic pregnancy
  tubal infertility
  benign neoplasms
  malignant neoplasms
  paratubal tumors
  paratubal cysts mesonephric paratubal cysts or wolffian paratubal cysts müllerian (...)

• inflammatory bowel diseases
  24 September 2003

  IBDs; inflammatory bowel diseases (IBDs )
  Types
  Crohn disease
  Crohn colitis
  ulcerative colitis (hemorragic rectoloitis )
  undeterminate colitis
  Susceptibility
  Genetic association studies have identified 210 risk loci for inflammatory bowel disease, which have revealed fundamental aspects of the molecular biology of the disease, including the roles of autophagy and Th17 cell signaling and development.
  A study identified 26 new genome-wide significant loci, three of which contain (...)

• angiodysplasias
  3 October 2003

  Classification
  hereditary hemorrhagic telangiectasia.

• polycystic kidney diseases
  24 October 2003

  PKDs, polycystic renal diseases, renal polycystosis
  Images
  Autosomal dominant polycystic Kidney Disease (ADPKD)
  https://twitter.com/yasminelys/status/745183710237048832
  Digital cases (Digital slides)
  HPC4 : autosomal dominant polycystic kidney disease (ADPKD)
  UI:763 : autosomal dominant polycystic kidney disease (ADPKD)
  Classification
  autosomal dominant polycystic kidney disease (ADPKD)
  mutations in PKD1 (MIM.601313) (16p13) (ADPKD1)
  mutations in PKD2 (MIM.173910) (...)

• primary ciliary dyskinesia
  23 November 2003

  PCD, immotile cilia syndrome
  Digital case (Digital slides)
  HPC:366 : Bronchiectasis in ciliary dyskinesia
  Definition: Autosomal recessive chronic pulmonary disease.
  Synopsis
  bronchiectasis
  immotile cilia
  ciliary dyskinesia
  chronic rhinitis
  sinusitis
  nasal polyps
  abnormal dynein arms by electron microscopy
  Etiology: 5 loci have been identified. DNAI1 CILD1 MIM.242650 9p21-p13 unknown CILD2 MIM.606763 19q13.3-qter DNAH5 CILD3 MIM.608644 5p15-p14 unknown CILD4 (...)

• cerebral amyloid angiopathy
  12 November 2003

  cerebral amyloid angiopathies, CAA

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