Monogenic disease

Articles

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• Gaucher disease
  1 October 2003

  Definition: Gaucher disease refers to a cluster of autosomal recessive disorders resulting from mutations in the gene encoding glucocerebrosidase. Acid beta-glucocerebrosidase, also known as beta-glucosidase (GBA) (EC 3.2.1.45), is a lysosomal enzyme that catalyzes the breakdown of the glycolipid glucosylceramide to ceramide and glucose.
  This disease is the most common lysosomal storage disorder. The affected gene encodes glucocerebrosidase, an enzyme that normally cleaves the glucose (...)

• glycogen storage disease type 4
  25 April 2004

  GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

• hereditary spherocytosis
  12 December 2006

  Minkowski-Chauffard disease WP
  Digital slides
  UI:742 : spleen in hereditary spherocytosis.
  Videos
  Hereditary spherocytosis by Washington Deceit
  See also
  erythrocytic anomalies

• Pfeiffer syndrome
  1 December 2004

  acrocephalosyndactyly, Noack syndrome, craniofacial-skeletal- dermatologic dysplasia

• trisomy 22
  9 May 2005

  Trisomy 22 is frequently seen in first trimester miscarriages but is extremely rare in life-borns. Trisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the literature are thought to represent the product of unbalanced 11;22 translocations or the result of undetected mosaicism, since this condition is thought to manifest early embryonic or fetal lethality.
  Types
  non-mosaic (...)

• McCune-Albright syndrome
  27 June 2007

  The McCune-Albright syndrome is characterized by polyostotic fibrous dysplasia, pigment patches of the skin and endocrinologic abnormalities, including precocious puberty, thyrotoxicosis, pituitary gigantism, and Cushing syndrome (MIM.219080). It is usually caused by mosaicism for a mutation in the GNAS1 gene.
  Synopsis
  polyostotic fibrous dysplasia
  pigment patches of the skin
  endocrinologic abnormalities
  precocious puberty
  thyrotoxicosis
  pituitary gigantism
  primary bimorphic (...)

• sickle cell disease
  31 May 2003

  Sickle cell anemia lesions in liver, sickle cell hemoglobinopathy, HbS, Sickle cell disease, sickle cell trait ; sickle cell anemia ; SCD
  Definition: Sickle cell anemia is caused by substitution of normal hemoglobin (HbA) by hemoglobin S (HbS). When an individual is homozygous for the mutant gene, all the hemoglobin is of the abnormal, HbS, type, and even with normal saturation of oxygen, the disorder is fully expressed (i.e., sickling deformity of all red cells and hemolytic anemia). (...)

• 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, (...)

• Denys-Drash syndrome
  11 February 2004

  Ent. 1967
  Synospsis
  diffuse mesangial sclerosis (DMS)
  male sex reversal (male pseudohermaphrosim)
  Etiology
  constitutional punctual mutations in the WT1 gene (zing-fingers)
  References
  Management of Wilms tumors in Drash and Frasier syndromes. Auber F, Jeanpierre C, Denamur E, Jaubert F, Schleiermacher G, Patte C, Cabrol S, Leverger G, Nihoul-Fékété C, Sarnacki S. Pediatr Blood Cancer. 2009 Jan;52(1):55-9. PMID: #18816692#
  Case report: WT1 exon 6 truncation mutation and ambiguous (...)

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 430