Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death...

Griscelli syndrome type 2 (also known as "partial albinism with immunodeficiency") is a rare autosomal recessive syndrome characterized by variable cutenous...

Griscelli syndrome type 3 is a disorder of melanosome transport presenting initially with hypopigmentation.: 866  Griscelli syndrome James, William; Berger...

activity.[citation needed] A major differential diagnosis of HLH is Griscelli syndrome (type 2). This is a rare autosomal recessive disorder characterized...

Muckle–Wells syndrome. NOMID has been successfully treated with the drug anakinra. This syndrome is also known as the Prieur–Griscelli syndrome as it was...

Green nail syndrome Greig cephalopolysyndactyly syndrome Grinspan's syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Griscelli syndrome Grisel's...

foxes, and the only known captive white orca. Griscelli syndrome (also known as "Chédiak–Higashi like syndrome") Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo...

susceptibility to sunburn and skin cancers. In rare cases such as Chédiak–Higashi syndrome, albinism may be associated with deficiencies in the transportation of...

melanosome trafficking. It is associated with MYO5A.[citation needed] Griscelli syndrome James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases...

Ehlers–Danlos syndrome Familial dysautonomia (Riley–Day syndrome) FG syndrome Fragile X syndrome GLUT1 deficiency syndrome Griscelli syndrome Type 1 (Elejalde...

but doesn't affect the whole body. Griscelli syndrome. Causes immune and neurological issues. Griscelli syndrome usually results in death within the...

DiGeorge syndrome (DiGeorge anomaly, thymic hypoplasia) Graft-versus-host disease Griscelli syndrome Hyper-IgE syndrome (Buckley syndrome, Job syndrome) Immunodeficiency...

blue-grey colour and has been reported in several mammals: humans (Griscelli syndrome type 3), mice, cats, dogs and minks The lavender phenotype in Japanese...

RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...

Immunodeficiency with hypopigmentation or albinism: Chédiak–Higashi syndrome, Griscelli syndrome type 2 Familial hemophagocytic lymphohistiocytosis: perforin...

Rab3A. Defects in Myosin Va are associated with Griscelli syndrome type 1, also known as Elejalde syndrome a rare autosomal recessive disorder. This defect...

disorders, such as hyper IgM syndrome, Hermansky–Pudlak syndrome (HPS), Griscelli syndrome (GS), PN, P14 deficiency, Cohen syndrome, Charcot–Marie–Tooth disease...

be drug-resistant and metastatic. Albino Albinism in biology Griscelli syndrome, a syndrome characterised by hypopigmentation Human skin color Melanin theory...

Prenatal infections Presbycusis Presbyopia Prieto–Badia–Mulas syndrome Prieur–Griscelli syndrome Primary agammaglobulinemia Primary aldosteronism Primary alveolar...

ataxia–telangiectasia, Chédiak–Higashi syndrome, DiGeorge syndrome, Griscelli syndrome and Marinesco–Sjögren syndrome. There is no known curative treatment...

expression may be regulated by MITF. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal...

mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2 and hemophagocytic lymphohistiocytosis. Alternative splicing...

II Griscelli syndrome, while a decrease in Rab27 prenylation is thought to be involved in choroideremia. The symptoms of type II Griscelli syndrome have...

Muir–Torre syndrome MLPH Griscelli syndrome MITF Waardenburg syndrome type 2 MSH2 Muir–Torre syndrome MSX1 Witkop syndrome MYO5A Griscelli syndrome NF1 Neurofibromin...

syndrome Phagocyte disorders Kostmann syndrome Shwachman–Diamond syndrome Immune dysregulation diseases Griscelli syndrome, type II Innate immune deficiencies...

cause lysosomal defects, like Chediak-Higashi syndrome, Hermansky-Pudlak syndrome type 2, and Griscelli syndrome type 2. However, short stature is only observed...

Nagaraju S, Sahu JK, Rawat A, Vyas S, Singhi P. Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. Neurology. 2014 Apr 8;82(14):e122-3....

cephalopolysyndactyly syndrome; 175700; GLI3 Griscelli syndrome type 1; 214450; MYO5A Griscelli syndrome type 2; 607624; RAB27A Griscelli syndrome type 3; 609227;...

disease Gray platelet syndrome Great vessels transposition Greenberg dysplasia Greig cephalopolysyndactyly syndrome GCPS Griscelli disease Grix–Blankenship–Peterson...

Anikster Y, Huizing M, Anderson PD, et al. (2002). "Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not...