Group of diseases

Articles

• albinisms
  22 September 2003

  Classification
  oculocutaneous albinisms
  oculocutaneous albinism type 1 (OCA1A MIM.203100) (TYR mutations MIM.606933)
  oculocutaneous albinism type 1 (OCA1B MIM.606952) (TYR mutations MIM.606933)
  oculocutaneous albinism type 2 (OCA2 MIM.103470) (OCA2 mutations MIM.611409)
  oculocutaneous albinism type 3 (OCA3 MIM.203290) (TYRP1 mutations MIM.115501)
  oculocutaneous albinism type 4 (OCA4 MIM.606574) (SLC45A2 mutations MIM.606202)
  ocular albinisms
  ocular albinism type 1 (OA1) (...)

• hereditary spastic paraplegias
  26 September 2003

  SPGs, hereditary spastic paralysis, hereditary spastic paraparesis

• hair genetic diseases
  5 February 2006

  hair genodermatoses

• PKD1L1-associated heterotaxy
  21 November 2003

  lateralization defects, anomalies of body asymmetry, defects in situs orientation; laterality defects;situs anomalies
  Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy ).
  The genetic causes of laterality defects in humans are highly heterogeneous.
  The identification of bi-allelic PKD1L1 mutations recapitulates previous findings regarding phenotypic consequences of loss of function (...)

• distal arthrogryposis
  22 September 2003

  Distal arthrogryposes are characterized by multiple congenital contractures of the hands/wrists and feet/ankles.
  Classification
  DA1: distal arthrogryposis type 1 (MIM.108120)
  DA2A: distal arthrogryposis type 2A (MIM.193700)
  DA2B: distal arthrogryposis type 2B (ch. 11) (MIM.601680)
  DA2C: distal arthrogryposis type 2C
  DA2D: distal arthrogryposis type 2D
  DA3: distal arthrogryposis type 3 (Gordon syndrome) (MIM.114300) (camptodactyly, cleft palate and club-foot)
  DA4: distal (...)

• heritable cutaneous blistering
  24 September 2003

  heritable skin blistering

• cutaneous histiocytoses
  24 October 2003

  primary histiocytic dermatoses, cutaneous histiocytoses, aggressive histiocytic disorders, primary histiocytic dermatoses

• genodermatoses
  22 September 2003

  Classification
  pigmentary genodermatoses
  blistering genodermatoses (heritable skin blistering) Kindler’s syndrome
  congenital dyskeratosis
  References
  Arin MJ, Roop DR. Disease model: heritable skin blistering. Trends Mol Med. 2001 Sep;7(9):422-4. PMID: #11530338#

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