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

• Meckel syndrome
  18 March 2004

  Meckel-Gruber syndrome, dysencephalia splanchnocystica

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• Feingold syndrome
  18 April 2005

  oculodigitoesophageal syndrome, ODED syndrome

• amelogenesis imperfecta
  26 May 2004

  Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.
  The prevalence varies from 1:700 to 1:14,000, according to the populations studied. The enamel may be hypoplastic, hypomineralised or both and teeth affected may be discoloured, (...)

• Batten disease
  17 December 2004

  Definition: Juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, Spielmeyer-Vogt-Sjogren disease, CLN3) is the most common inherited, autosomal recessive, neurodegenerative disorder in man.
  Like the other neuronal ceroid-lipofuscinoses, it is characterized by progressive loss of vision, seizures, and loss of cognitive and motor functions, leading to premature demise.
  Juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is one type of the neuronal ceroid (...)

• hereditary leiomyomatosis and renal cell cancer syndrome
  24 September 2003

  HLRCC syndrome; FH-associated RCC; FH-deficient RCC; Reed syndrome
  Definition: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-muscle tumors of the skin and uterus and/or renal cell carcinoma. The mutation of this condition has been identified in the fumarate hydratase (FH, 1q42.3-q43) gene.
  Mutations in the fumarate hydratase (FH) gene underlie HLRCC, a rare syndrome involving cutaneous and uterine leiomyomata and (...)

• xeroderma pigmentosum
  6 March 2004

  XP

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• Aicardi-Goutieres syndrome
  16 March 2007

  Definition: Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection.
  AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3’—>5’ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex (RNASEH2A, RNASEH2B, and RNASEH2C).
  This autosomal recessive disease is allelic to Cree encephalitis (MIM.608505) and pseudo-TORCH syndrome (MIM.251290) .
  Types
  Aicardi-Goutieres (...)

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