Elejalde syndrome

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Elejalde syndrome
Autosomal recessive - en.svg
Elejalde syndrome is inherited in an autosomal recessive manner
Classification and external resources
ICD-10 E70.3
OMIM 214450
eMedicine article/1069594
MeSH C537301
Orphanet 79476

Elejalde syndrome (also known as Griscelli syndrome type 1) is an extremely rare autosomal recessive syndrome (only around 10 cases known) consisting of moderate pigment dilution, profound primary neurologic defects, no immune defects, and hair with metallic silvery sheen.[1][2]

It is associated with MYO5A.

See also[edit]

References[edit]

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ Cahali, Juliana Burihan; Fernandez, Solange Assuncion Villagra; Oliveira, Zilda Najjar Prado; Machado, Maria Cecilia da Mata Rivitti; Valente, Neusa Sakai; Sotto, Mirian Nacagami (2004). "Elejalde Syndrome: Report of a Case and Review of the Literature". Pediatric Dermatology. 21 (4): 479–482. ISSN 0736-8046. doi:10.1111/j.0736-8046.2004.21414.x.