Monogenic disease

Articles

• Alzheimer disease
  20 October 2003

  Alzheimer’s disease

• 17,20-desmolase deficiency
  22 July 2010

  Synopsis
  ambiguous genitalia
  in utero virilization of female fetus
  fetal and maternal virilization associated with pregnancy
  normal karyotype / normal female genotype
  extremely high levels of pregnenolone, pregnenolone sulfate, progesterone d in association with low plasma levels of delta 4-androstenedione, testosterone, dehydroepiandrosterone and its sulfate
  cortisol 17OH-progesterone and ACTH levels and plasma renin activity normal.
  all the progestagens rise further after (...)

• 46,XY gonadal dysgenesis
  23 August 2007

  Gonadal dysgenesis XY female type; GDXY; 46,XY gonadal dysgenesis, Swyer syndrome; 46,XY gonadal disorder of sex development, 46,XY gonadal DSD; XY gonadal dysgenesis

• metachromatic leukodystrophies
  4 June 2006

  arysulfatase A deficiency, ARSA deficiency, cerebroside sulfatase deficiency, sulfatide lipidosis, MLD, metachromatic leukodystrophy, sulfatase deficiency

• 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 (...)

• Pfeiffer syndrome
  1 December 2004

  acrocephalosyndactyly, Noack syndrome, craniofacial-skeletal- dermatologic dysplasia

• TTF1-associated pneumopathy
  29 April 2010

  Pulmonary Pathology in Thyroid Transcription Factor-1 Deficiency Syndrome; TTF1-associated diffuse lung disease

• FOXF1-associated alveolar capillary dysplasia
  22 November 2011

  Pathology
  Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. (#20425831#)
  FOXF1-associated alveolar capillary dysplasia
  Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. (#19500772#)
  References
  Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and (...)

• Hailey-Hailey disease
  1 November 2004

  benign chronic pemphigus

• mucolipidosis type 2
  17 February 2006

  Inclusion-cell disease, I-cell disease, IC disease, mucolipidosis type II, Mucolipidosis II

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