Dysfunctional diseases

Articles

• neonatal diabetes mellitus
  29 July 2007

  Transient (TNDM) and Permanent (PNDM) Neonatal Diabetes Mellitus are rare conditions occurring in 1:300,000-400,000 live births. TNDM infants develop diabetes in the first few weeks of life but go into remission in a few months, with possible relapse to a permanent diabetes state usually around adolescence or as adults.
  The pancreatic dysfunction in this condition may be maintained throughout life, with relapse initiated at times of metabolic stress such as puberty or pregnancy.
  In PNDM, (...)

• Kostmann disease
  21 September 2007

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

• Opitz-Kaveggia syndrome
  5 October 2007

  OKS, FG syndrome

• polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  29 November 2007

  PLOSL

• Kartagener syndrome
  24 November 2004

  Siewert syndrome

• 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 (...)

• cone rod dystrophies
  6 October 2003

  inherited retinal dystrophy, cone-rod dystrophy

• 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 (...)

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

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

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