Dysfunctional diseases

Articles

• 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 (...)

• Kartagener syndrome
  24 November 2004

  Siewert syndrome

• 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 (...)

• 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 (...)

• polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  29 November 2007

  PLOSL

• FTDP-17
  18 January 2008

  frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP17)

• Opitz-Kaveggia syndrome
  5 October 2007

  OKS, FG syndrome

• cone rod dystrophies
  6 October 2003

  inherited retinal dystrophy, cone-rod dystrophy

• Kostmann disease
  21 September 2007

  SCN3, severe congenital neutropenia type 3, autosomal recessive severe congenital neutropenia

• 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, (...)

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