Dysfunctional diseases

Articles

• LIG4 syndrome
  19 November 2003

  DNA ligase 4 deficiency

• FTDP-17
  18 January 2008

  frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP17)

• central core disease
  28 July 2007

  Ent. 1956
  Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies.
  CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pronounced in the hip girdle; orthopaedic complications are common and malignant (...)

• X-linked chronic idiopathic intestinal pseudo-obstruction
  30 November 2007

  X-linked chronic intestinal pseudo-obstruction, X-linked CIPO

• IL12B
  31 August 2004

  The IL12B gene on chromosome 5q31-33 encodes the p40 subunit of interleukin 12, an immunomodulatory cytokine.
  Interleukin-12 has 2 chains, a 35-kD chain encoded by IL12A (MIM.161560) and a 40-kD chain encoded by IL12B.
  Pathology
  germline mutations in
  disseminated infection with BCG and Salmonella enteritidis (MIM.209950) (#9603732#, #9854038#)
  IL12B polymorphisms association with in
  asthma susceptibility (#15322986#)
  psoriasis susceptibility (#17236132#)
  References
  Cargill M, (...)

• cone rod dystrophies
  6 October 2003

  inherited retinal dystrophy, cone-rod dystrophy

• hereditary hypofibrinogenemia
  6 August 2007

  Definition: Hypofibrinogenemia is a rare inherited disorder characterized by low levels of circulating fibrinogen, caused by mutations within 1 of the 3 fibrinogen genes.
  Etiology
  As hereditary afibrinogenemia, hereditary hypofibrinogenemia is the result of mutation in one or another of the 3 fibrinogen genes, alpha (FGA) (MIM.134820), beta (FGB) (MIM.134830), or gamma (FGG) (MIM.134850).
  Complete absence of detectable fibrinogen, true congenital afibrinogenemia, was first demonstrated (...)

• F12
  15 December 2007

  The coding sequence of F12 consists of multiple domains that are homologous to domains found in fibronectin (MIM.135600) and tissue-type plasminogen activator (tTPA) (MIM.173370).
  These regions are found as separate exons in the gene. The 5-prime end of the gene does not contain the typical TATA and CAAT sequences found in other genes. This is consistent with the finding that transcription of the gene is initiated at multiple sites.
  Pathology
  inactivating germline mutations of F12 (...)

• desmin cardiomyopathy
  28 August 2007

  Synopsis
  diffuse myocyte hypertrophy
  nuclear pleomorphism without intramyocardial fibrosis
  myofibers distorted by intracytoplasmic, pale, waxy hyaline inclusions
  conduction fibers grossly swollen and preferentially involved
  trichrome stain pale pink inclusions against a red background
  inclusions PAS negative and not congophilic
  Immunochemistry
  desmin immunohistochemical staining variable dense staining of inclusions in some areas faint to no staining
  Electron microscopy (...)

• Opitz-Kaveggia syndrome
  5 October 2007

  OKS, FG syndrome

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