Genetic and developmental anomalies

• precocious puberty
  29 September 2008

  Références
  Carel JC, Léger J. Clinical practice. Precocious puberty. N Engl J Med. 2008 May 29;358(22):2366-77. PMID: #18509122#

• inherited bone marrow failure syndromes
  27 August 2008

  Types
  Diamond-Blackfan anaemia
  dyskeratosis congenita (DC)
  Shwachman-Diamond syndrome
  cartilage-hair hypoplasia
  Ribosomal dysfunction (#18410571#)
  Impairment of ribosome biogenesis or function characterizes several of the inherited bone marrow failure syndromes:
  Diamond-Blackfan anaemia
  dyskeratosis congenita (DC)
  Shwachman-Diamond syndrome
  cartilage-hair hypoplasia
  These syndromes exhibit overlapping but distinct clinical phenotypes and each disorder involves different (...)

• Cowden-like syndromes
  26 August 2008

  Etiology
  germline mutations in PTEN gene (MIM.601728) SDHB of succinate dehydrogenase (#18678321#) SDHD of succinate dehydrogenase (#18678321#) BMPR1A gene (MIM.601299) (BMPR1A-associated Cowden-like syndrome)
  See also
  Cowden disease (MIM.158350)
  References
  Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet. 2008 (...)

• aceruloplasminemia
  5 August 2008

  Aceruloplasminemia involves a loss of plasma ferroxidase activity, which (like the loss of ferroportin activity) impairs cellular iron efflux, sometimes provoking hypochromic microcytic anemia.
  Iron accumulates in various organs, including the liver, but brain involvement predominates, and the presentation almost invariably involves neurologic abnormalities.
  Aceruloplasminemia differs from Wilson disease, in which hypoceruloplasminemia, when present, is secondary to a copper-transport (...)

• adult-onset hereditary hemochromatosis
  5 August 2008

  Types
  classic hemochromatosis
  hemochromatosis type 3 (TFR2-associated hemochromatosis - MIM.604250) (TFR2, transferrn receptor 2 - MIM.604720)

• hemochromatosis type 4
  5 August 2008

  HFE4, Ferroportin-associated iron overload

• hemochromatosis type 3
  5 August 2008

  HFE3, TFR2-associated hemochromatosis

• classic hemochromatosis
  5 August 2008

  HFE, Classic Hereditary Hemochromatosis

• juvenile hemochromatosis
  5 August 2008

  HFE2, hemochromatosis type 2

• Menkes disease
  5 August 2008

  Definition: Menkes disease is a X-linked recessive disease of copper transportc aused by mutation in the gene encoding Cu(2+)-transporting ATPase, alpha polypeptide (ATP7A) (MIM.300011).
  Epidemiology
  Classic severe form shows onset at 2 to 3 months of age
  Early death (usually be 3 years of age)
  A milder form has also been reported
  Incidence ranges from 1 in 40,000 to 1 in 350,000 births
  Synopsis
  short stature
  intrauterine growth retardation (IUGR)
  microcephaly (...)

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