Monogenic disease

Articles

• Smith-Lemli-Opitz syndrome
  25 November 2003

  SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• thanatophoric dysplasia
  5 July 2005

  thanatophoric dwarfism, thanatophoric dysplasias

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• xeroderma pigmentosum
  6 March 2004

  XP

• Bardet-Biedl syndrome
  29 September 2003

  BBS

• Blackfan-Diamond anemia
  26 November 2003

  congenital hypoblastic anemia of Blackfan-Diamond, congenital chronic aregenerative anemia

• juvenile nephronophthisis
  27 October 2003

  Nephronophthisis comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults.
  Synopsis
  medullary cystic disease renal medullary cysts renal corticomedullary cysts renal interstitial fibrosis renal tubular atrophy relatively spared glomeruli
  nephronophthisis-associated hepatic disease nephronophthisis-associated congenital hepatic fibrosis hepatic fibrosis
  Variants (...)

• Leigh syndrome
  28 May 2003

  Leigh’s syndrome

• dyskeratosis congenita
  18 November 2003

  congenital dyskeratosis, Zinsser-Engman-Cole syndrome
  Definition: Dyskeratosis congenita (DC) is a rare inherited syndrome characterized by the triad of abnormal skin pigmentation, nail dystrophy, mucosal leucoplakia and bone marrow failure syndrome.
  Synopsis
  aplastic anemia
  bone marrow hypoplasia with bone marrow failure and pancytopenia (40%)
  bone marrow failure syndrome
  anemia
  leucopenia
  thrombopenia
  erythrokeratodermia variablis
  chronic keratoconjunctivitis
  nail (...)

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