KEGG   DISEASE: Griscelli syndrome
Entry
H02022                      Disease                                
Name
Griscelli syndrome
  Supergrp
Other phagocyte defects [DS:H00101]
Disorders of innate immunity [DS:H02525]
Primary immunodeficiency disease [DS:H01725]
Description
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA, RAB27A, or melanophilin genes. GS1 associates characteristic albinism with a severe primary neurological impairment. GS2 is characterized by the hypopigmentation associated with an immune defect, leading to episodes of a life-threatening uncontrolled T lymphocyte and macrophage activation syndrome.
Category
Primary immunodeficiency
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC23  Genetic disorders of skin pigmentation
    H02022  Griscelli syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06541  Cytoskeleton in neurons
   H02022  Griscelli syndrome
Network
nt06541 Cytoskeleton in neurons
Gene
(GS1) MYO5A [HSA:4644] [KO:K10357]
(GS2) RAB27A [HSA:5873] [KO:K07885]
(GS3) MLPH [HSA:79083] [KO:K22235]
Other DBs
ICD-11: EC23.2Y
MeSH: C537301 C537302 C537303
OMIM: 214450 607624 609227
Reference
PMID:15096561
  Authors
Lim MS, Elenitoba-Johnson KS.
  Title
The molecular pathology of primary immunodeficiencies.
  Journal
J Mol Diagn 6:59-83 (2004)
DOI:10.1016/S1525-1578(10)60493-X
Reference
PMID:9207796 (MYO5A)
  Authors
Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, Griscelli C, Fischer A, de Saint Basile G
  Title
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.
  Journal
Nat Genet 16:289-92 (1997)
DOI:10.1038/ng0797-289
Reference
PMID:10835631 (RAB27A)
  Authors
Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G
  Title
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
  Journal
Nat Genet 25:173-6 (2000)
DOI:10.1038/76024
Reference
PMID:12897212 (MYO5A, MLPH)
  Authors
Menasche G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G
  Title
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).
  Journal
J Clin Invest 112:450-6 (2003)
DOI:10.1172/JCI18264
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