Group of diseases

Articles

• distal arthrogryposis
  22 September 2003

  Distal arthrogryposes are characterized by multiple congenital contractures of the hands/wrists and feet/ankles.
  Classification
  DA1: distal arthrogryposis type 1 (MIM.108120)
  DA2A: distal arthrogryposis type 2A (MIM.193700)
  DA2B: distal arthrogryposis type 2B (ch. 11) (MIM.601680)
  DA2C: distal arthrogryposis type 2C
  DA2D: distal arthrogryposis type 2D
  DA3: distal arthrogryposis type 3 (Gordon syndrome) (MIM.114300) (camptodactyly, cleft palate and club-foot)
  DA4: distal (...)

• diastrophic dysplasia
  6 September 2005

  Diastrophic dysplasia is a rare autosomal recessive bone dysplasia.
  Synopsis
  variable micromelic dwarfism without thoracic dysplasia, - foot deformities tarsus valgus metatarsus adductus clubfoot
  ulnar deviation of the hands with abnormally placed thumbs (hitch hiker deformity)
  flexion contractures multiple subluxations or dislocations
  hitch hiker thumb

• histiocytoses
  19 July 2003

  histiocytopathies, histiocytosis, histiocytic disorders, histiocytic tumors, histiocytic proliferations, aggressive histiocytic disorders
  Digital cases
  HPC:290 : Nodal Histiocytic infiltration in Rosai-Dorfman disease
  HPC:338 : Nodal Langerhans histiocytosis with tuberculoid granulomatous pattern
  Cases
  Case 11335: Femoral Langerhans cell histiocytosis
  Case 12691: Faciocranial Langerhans cell histiocytosis
  Definition: Histiocytoses are a heterogeneous group of disorders that are (...)

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• autoimmune diseases
  3 July 2003

  auto-immune diseases; autoimmunity
  Definition: Immune reactions against self-antigens-autoimmunity-are an important cause of certain diseases in humans, estimated to affect at least 1% to 2% of the US population.
  A growing number of diseases have been attributed to autoimmunity, but in many the evidence is not firm. Autoantibodies can be found in the serum of apparently normal individuals, particularly in older age groups.
  Furthermore, innocuous autoantibodies are also formed after (...)

• lysosomal storage diseases
  21 November 2003

  lysosomal storage disorders

• Diseases
  12 November 2004

  Types
  developmental anomalies (Malformations )
  genetic diseases
  metabolic diseases
  infections (infectious diseases)
  dysimmunity and auto-immune diseases
  Tumors

• genetic diseases
  19 July 2003

  Inherited human diseases, genetic disorders, hereditary disorders in humans

• anomalies of neural crest migration
  9 June 2003

  neural crest syndromes

• tumor predisposition syndromes
  19 June 2003

  cancer prone diseases, tumoral predisposition syndrome, cancer predisposition syndrome, tumor prone diseases, cancer susceptibility
  Cancer predisposition are related to anomalies of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis.
  Classification
  anomalies of DNA metabolism rhabdoid tumor predisposition syndrome (INI1)
  dysregulation of telomere shortening dyskeratosis congenita (DKC)
  DNA repair anomalies DNA mismatch repair anomalies (HNPCC) base (...)

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