MCID: GRS013
MIFTS: 48

Griscelli Syndrome, Type 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Immune diseases, Blood diseases

Aliases & Classifications for Griscelli Syndrome, Type 1

MalaCards integrated aliases for Griscelli Syndrome, Type 1:

Name: Griscelli Syndrome, Type 1 54 24 13 52 69
Griscelli Syndrome Type 1 12 50 29 42 14
Gs1 12 50 71
Partial Albinism and Primary Neurologic Disease Without Hemophagocytic Syndrome 50 24
Griscelli Syndrome, Cutaneous and Neurologic Type 50 24
Hypopigmentation-Neurologic Impairment Syndrome 12 56
Griscelli Syndrome with Neurologic Impairment 50 24
Griscelli-Pruniéras Syndrome Type 1 12 56
Pigmentary Dilution of the Skin and Hair, the Presence of Large Clumps of Pigment in Hair Shafts 50
Griscelli Syndrome with Primary Neurologic Impairment 71
Griscelli Syndrome, Cutaneous and Neurological Type 12
Griscelli Syndrome with Neurological Impairment 12
Griscelli Disease Type 1 56
Griscelli Syndrome 1 71

Characteristics:

Orphanet epidemiological data:

56
griscelli disease type 1
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
may be same entity as elejalde syndrome
see also griscelli syndrome type 2 for a similar disorder with characteristic immunologic abnormalities and
griscelli syndrome type 3 for a similar disorder without neurologic or immunologic abnormalities


HPO:

32
griscelli syndrome, type 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Griscelli Syndrome, Type 1

OMIM : 54
Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (607624), is caused by mutation in the RAB27A gene (603868). Griscelli syndrome type 3 (609227), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH; 606526) or MYO5A genes. Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse. Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and 3,2:Bahadoran et al. (2003, 2003) suggested that Elejalde syndrome (256710) in some patients and GS1 represent the same entity. (214450)

MalaCards based summary : Griscelli Syndrome, Type 1, also known as griscelli syndrome type 1, is related to griscelli syndrome, type 2 and griscelli syndrome, type 3, and has symptoms including nystagmus, ataxia and diplopia. An important gene associated with Griscelli Syndrome, Type 1 is MYO5A (Myosin VA), and among its related pathways/superpathways is Spinal Cord Injury. The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.

UniProtKB/Swiss-Prot : 71 Griscelli syndrome 1: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities.

Related Diseases for Griscelli Syndrome, Type 1

Diseases in the Griscelli Syndrome family:

Griscelli Syndrome, Type 3 Griscelli Syndrome, Type 1
Griscelli Syndrome, Type 2

Diseases related to Griscelli Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 2 23.1 AIF1 AKR1B1 CDK4 COX5A CXCL1 EDC4
2 griscelli syndrome, type 3 11.4
3 griscelli syndrome 11.3
4 x-linked intellectual disability, porteous type 9.9 EGF TP63
5 moved to 244450 9.9 ICAM3 SELE
6 ragweed sensitivity 9.9 ELANE SELE SELP

Graphical network of the top 20 diseases related to Griscelli Syndrome, Type 1:



Diseases related to Griscelli Syndrome, Type 1

Symptoms & Phenotypes for Griscelli Syndrome, Type 1

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
mental retardation
developmental delay
seizures

Skin Nails & Hair- Hair:
silver-gray hair
melanin pigment aggregation in hair shafts

Skin Nails & Hair- Skin:
skin hypopigmentation
accumulation of melanosomes in melanocytes

Head And Neck- Eyes:
roving eye movements
poor visual fixation

Immunology:
no immunologic abnormalities


Clinical features from OMIM:

214450

Human phenotypes related to Griscelli Syndrome, Type 1:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 diplopia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000651
4 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 hypertonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001276
6 hyperlipidemia 56 32 frequent (33%) Frequent (79-30%) HP:0003077
7 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
8 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
9 generalized hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001290
10 retinopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000488
11 premature graying of hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002216
12 cerebral calcification 56 32 occasional (7.5%) Occasional (29-5%) HP:0002514
13 white hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0011364
14 abnormality of movement 56 32 hallmark (90%) Very frequent (99-80%) HP:0100022
15 iris hypopigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007730
16 partial albinism 56 32 hallmark (90%) Very frequent (99-80%) HP:0007443
17 muscular hypotonia 32 HP:0001252
18 silver-gray hair 32 HP:0002218
19 accumulation of melanosomes in melanocytes 32 HP:0001008
20 melanin pigment aggregation in hair shafts 32 HP:0002220
21 hypopigmentation of the skin 32 HP:0001010

UMLS symptoms related to Griscelli Syndrome, Type 1:


seizures

MGI Mouse Phenotypes related to Griscelli Syndrome, Type 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 AKR1B1 CDK4 EDC4 GABBR1 GLUL MYO5A
2 growth/size/body region MP:0005378 10.06 PEPD RAB27A SELE SELP TP63 AKR1B1
3 hematopoietic system MP:0005397 9.96 AIF1 CDK4 EDC4 ELANE GPSM3 MYO5A
4 immune system MP:0005387 9.9 AIF1 CDK4 EGF ELANE GPSM3 MYO5A
5 integument MP:0010771 9.61 CDK4 EGF GABBR1 MYO5A PEPD RAB27A
6 vision/eye MP:0005391 9.28 SELE SELP TP63 AIF1 AKR1B1 CDK4

Drugs & Therapeutics for Griscelli Syndrome, Type 1

Drugs for Griscelli Syndrome, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational 216503-57-0
2
Busulfan Approved, Investigational 55-98-1 2478
3
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
4
Fludarabine Approved 21679-14-1, 75607-67-9 30751
5
Melphalan Approved 148-82-3 4053 460612
6
Mesna Approved 3375-50-6 598
7
Vidarabine Approved 24356-66-9 32326 21704
8 Alkylating Agents
9 Anti-Infective Agents
10 Antimetabolites
11 Antimetabolites, Antineoplastic
12 Antirheumatic Agents
13 Antiviral Agents
14 Immunosuppressive Agents
15 Protective Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA

Search NIH Clinical Center for Griscelli Syndrome, Type 1

Cochrane evidence based reviews: griscelli syndrome type 1

Genetic Tests for Griscelli Syndrome, Type 1

Genetic tests related to Griscelli Syndrome, Type 1:

id Genetic test Affiliating Genes
1 Griscelli Syndrome Type 1 29
2 Griscelli Syndrome, Type 1 24 MYO5A

Anatomical Context for Griscelli Syndrome, Type 1

MalaCards organs/tissues related to Griscelli Syndrome, Type 1:

39
Skin, Bone, Bone Marrow, Eye

Publications for Griscelli Syndrome, Type 1

Articles related to Griscelli Syndrome, Type 1:

id Title Authors Year
1
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. ( 22711375 )
2012
2
Griscelli syndrome type 1: a report of two cases and review of the literature. ( 19318926 )
2009
3
Myosin Va mutation in rats is an animal model for the human hereditary neurological disease, Griscelli syndrome type 1. ( 17185506 )
2006
4
Griscelli syndrome types 1 and 2. ( 12452176 )
2002

Variations for Griscelli Syndrome, Type 1

ClinVar genetic disease variations for Griscelli Syndrome, Type 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYO5A MYO5A, 2332C-T single nucleotide variant Pathogenic
2 MYO5A MYO5A, 47-BP INS, NT4634 insertion Pathogenic

Expression for Griscelli Syndrome, Type 1

Search GEO for disease gene expression data for Griscelli Syndrome, Type 1.

Pathways for Griscelli Syndrome, Type 1

Pathways related to Griscelli Syndrome, Type 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11 AIF1 CDK4 CXCL1 SELP

GO Terms for Griscelli Syndrome, Type 1

Cellular components related to Griscelli Syndrome, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.65 AKR1B1 COX5A EGF ELANE GLUL HIST1H1B
2 secretory granule GO:0030141 9.33 ELANE MYO5A RAB27A
3 specific granule lumen GO:0035580 8.8 CXCL1 ELANE RAB27A

Biological processes related to Griscelli Syndrome, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 leukocyte cell-cell adhesion GO:0007159 9.46 SELE SELP
2 response to lipopolysaccharide GO:0032496 9.46 CXCL1 ELANE SELE SELP
3 positive regulation of receptor internalization GO:0002092 9.43 EGF SELE
4 melanosome transport GO:0032402 9.4 MYO5A RAB27A
5 melanocyte differentiation GO:0030318 9.37 MYO5A RAB27A
6 leukocyte tethering or rolling GO:0050901 9.32 SELE SELP
7 leukocyte migration involved in inflammatory response GO:0002523 9.26 ELANE SELE
8 positive regulation of smooth muscle cell proliferation GO:0048661 9.13 AIF1 AKR1B1 ELANE
9 melanosome localization GO:0032400 8.62 MYO5A RAB27A

Molecular functions related to Griscelli Syndrome, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sialic acid binding GO:0033691 8.96 SELE SELP
2 oligosaccharide binding GO:0070492 8.62 SELE SELP

Sources for Griscelli Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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