Genetic and developmental anomalies

• MERRF/MELAS overlap syndrome
  27 June 2011

  References
  Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J. Muscle Nerve. 1996 Feb;19(2):187-90. PMID: #8559168#

• Ollier disease
  21 April 2011

  Ollier’s disease
  Digital cases
  HPC:223 : Enchondroma in Ollier disease.
  JRC:4372 : Juxtacortical chondroma in Ollier disease.
  Definition: Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases).
  When hemangiomata are associated, the condition is known as Maffucci syndrome.
  Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant (...)

• identity by state
  17 April 2011

  References
  Reconciling the analysis of IBD and IBS in complex trait studies. Powell JE, Visscher PM, Goddard ME. Nat Rev Genet. 2010 Nov;11(11):800-5. PMID: #2087732#

• identity by descent
  17 April 2011

  References
  Reconciling the analysis of IBD and IBS in complex trait studies. Powell JE, Visscher PM, Goddard ME. Nat Rev Genet. 2010 Nov;11(11):800-5. PMID: #2087732#

• genetic predisposition
  17 April 2011

  References
  Predicting genetic predisposition in humans: the promise of whole-genome markers. de los Campos G, Gianola D, Allison DB. Nat Rev Genet. 2010 Dec;11(12):880-6. PMID: #21045869#

• pleiotropy
  16 April 2011

  It was first noticed 100 years ago that mutations tend to affect more than one phenotypic characteristic, a phenomenon that was called ’pleiotropy’. Because pleiotropy was found so frequently, the notion arose that pleiotropy is ’universal’.
  However, quantitative estimates of pleiotropy have not been available until recently. These estimates show that pleiotropy is highly restricted and are more in line with the notion of variational modularity than with universal pleiotropy.
  This finding has (...)

• expression QTLs
  16 April 2011

  Approaches that combine expression quantitative trait loci (eQTLs) and genome-wide association studies (GWAS) are offering new functional information about the aetiology of complex human traits and diseases.
  Improved study designs - which take into account technological advances in resolving the transcriptome, cell history and state, population of origin and diverse endophenotypes - are providing insights into the architecture of disease and the landscape of gene regulation in humans. (...)

• ovarian dysgenesis with sensorineural deafness
  6 April 2011

  Perrault syndrome

• association alveolar proteinosis and cholestasis
  6 April 2011

  See also
  alveolar proteinosis
  lobular cholestasis

• H syndrome
  15 February 2011

  MIM.612391

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