Monogenic disease

Articles

• CHILD syndrome
  12 December 2006

  CHILD syndrome associates congenital hemidysplasia with ichthyosiform nevus and limb defects (MIM.308050). It is an X-linked dominant trait with lethality for male embryos.
  A symmetric distribution of this nevus can exceptionally be seen in patients with CHILD syndrome.
  The disorder is caused by mutations in NSDHL (MIM.300275), a gene playing an important role in the cholesterol biosynthetic pathway.
  CHILD syndrome is due to loss of function of an enzyme involved in cholesterol (...)

• 3-hydroxysteroid dehydrogenase deficiency
  25 May 2009

  3β-Hydroxysteroid dehydrogenase

• megacystis-microcolon-intestinal hypoperistalsis syndrome
  19 March 2007

  megacystis-microcolon syndrome, MMIH syndrome, MMIHS

• 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 (...)

• hypochondrogenesis
  19 January 2007

  Definition: Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.
  Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull develop normally, but the bones of the spine (vertebrae) and pelvis do not harden (ossify) properly.
  The face appears flat and oval-shaped, with widely spaced eyes, a (...)

• ring chromosome 4
  19 April 2005

  r(4)(p16—>q22.3) , deleted ring chromosome 4

• North American Indian childhood cirrhosis
  9 October 2008

  North American Indian childhood cirrhosis (NAIC) have been described an isolated nonsyndromic form of cholestasis in Ojibway-Cree children from First Nations communities in the Abitibi region of northwestern Quebec, Canada.
  The disease typically presents, in a child who is otherwise well, with transient neonatal jaundice that progresses to biliary cirrhosis requiring hepatic transplantation in childhood or early adulthood.
  The biochemical and histopathologic features of the disease (...)

• 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

• STAT3-associated hyper-IgE syndrome
  30 June 2011

  autosomal dominant hyper-IgE syndrome; Autosomal dominant hyper-IgE recurrent infection syndrome / Job-Buckley syndrome; autosomal dominant HIES; Job syndrome; autosomal-dominant hyper-IgE syndrome; STAT3 deficiency
  Definition: Autosomal dominant hyper-IgE recurrent infection syndrome is caused by mutation in the STAT3 gene (MIM.102582) (Job-Beckley syndrome).
  Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent (...)

• late infantile-onset neuronal ceroid lipofuscinosis type 7
  31 October 2007

  Etiology
  germline mutations in late infantile-onset neuronal ceroid lipofuscinosis type 7 (CLN7) (MIM.610951)
  See also
  neuronal ceroid lipofuscinoses
  References
  Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul;81(1):136-46. PMID: (...)

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