MCID: GRS013
MIFTS: 47

Griscelli Syndrome, Type 1

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

Aliases & Classifications for Griscelli Syndrome, Type 1

MalaCards integrated aliases for Griscelli Syndrome, Type 1:

Name: Griscelli Syndrome, Type 1 53 13 51 69
Griscelli Syndrome Type 1 12 49 28 41 14
Gs1 53 12 49 71
Partial Albinism and Primary Neurologic Disease Without Hemophagocytic Syndrome 53 49
Griscelli Syndrome, Cutaneous and Neurologic Type 53 49
Hypopigmentation-Neurologic Impairment Syndrome 12 55
Griscelli Syndrome with Neurologic Impairment 53 49
Griscelli-Pruniéras Syndrome Type 1 12 55
Pigmentary Dilution of the Skin and Hair, the Presence of Large Clumps of Pigment in Hair Shafts 49
Griscelli Syndrome with Primary Neurologic Impairment 71
Griscelli Syndrome, Cutaneous and Neurological Type 12
Griscelli Syndrome with Neurological Impairment 12
Griscelli Disease Type 1 55
Griscelli Syndrome 1 71

Characteristics:

Orphanet epidemiological data:

55
griscelli disease type 1
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

53
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:

31
griscelli syndrome, type 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Griscelli Syndrome, Type 1

OMIM : 53 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 and griscelli syndrome, type 2, and has symptoms including ataxia, seizures and nystagmus. An important gene associated with Griscelli Syndrome, Type 1 is MYO5A (Myosin VA), and among its related pathways/superpathways are Kaposi's sarcoma-associated herpesvirus infection and Activation of BH3-only proteins. 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 1 Griscelli Syndrome, Type 2
Griscelli Syndrome, Type 3

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

# Related Disease Score Top Affiliating Genes
1 griscelli syndrome 32.2 COX5A MYO5A RAB27A
2 griscelli syndrome, type 2 11.5
3 griscelli syndrome, type 3 11.5
4 acrocephalopolydactylous dysplasia 11.1
5 legg-calve-perthes disease 10.0 PEPD SELE SELP
6 carbuncle 9.7 CASP9 CDK4 CYCS
7 autoinflammation, lipodystrophy, and dermatosis syndrome 9.7 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:

53
Neurologic Central Nervous System:
seizures
developmental delay
hypotonia
mental retardation

Head And Neck Eyes:
roving eye movements
poor visual fixation

Immunology:
no immunologic abnormalities

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

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


Clinical features from OMIM:

214450

Human phenotypes related to Griscelli Syndrome, Type 1:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
4 diplopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000651
5 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
6 cerebral calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0002514
7 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
8 hypertonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001276
9 retinopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000488
10 abnormality of movement 55 31 hallmark (90%) Very frequent (99-80%) HP:0100022
11 premature graying of hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002216
12 hyperlipidemia 55 31 frequent (33%) Frequent (79-30%) HP:0003077
13 white hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0011364
14 iris hypopigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007730
15 partial albinism 55 31 hallmark (90%) Very frequent (99-80%) HP:0007443
16 generalized hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001290
17 hypopigmentation of the skin 31 HP:0001010
18 silver-gray hair 31 HP:0002218
19 accumulation of melanosomes in melanocytes 31 HP:0001008
20 melanin pigment aggregation in hair shafts 31 HP:0002220

UMLS symptoms related to Griscelli Syndrome, Type 1:


seizures

MGI Mouse Phenotypes related to Griscelli Syndrome, Type 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 AKR1B1 CDK4 CYCS EDC4 GABBR1 GLUL
2 growth/size/body region MP:0005378 10.18 TP63 AKR1B1 CASP9 CDK4 CYCS GABBR1
3 hematopoietic system MP:0005397 10.15 AIF1 CASP9 CDK4 CYCS EDC4 ELANE
4 immune system MP:0005387 10.13 MYO5A PEPD RAB27A SELE SELP TP63
5 cardiovascular system MP:0005385 10.09 GPSM3 PEPD SELE SELP TP63 AIF1
6 mortality/aging MP:0010768 9.97 AKR1B1 CASP9 CDK4 CYCS EDC4 ELANE
7 integument MP:0010771 9.86 CDK4 GABBR1 MYO5A PEPD RAB27A SELE
8 nervous system MP:0003631 9.7 CYCS GABBR1 GLUL GPSM3 MYO5A PEPD
9 vision/eye MP:0005391 9.23 AIF1 AKR1B1 CDK4 MYO5A RAB27A SELE

Drugs & Therapeutics for Griscelli Syndrome, Type 1

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Griscelli Syndrome Type 1 28 MYO5A

Anatomical Context for Griscelli Syndrome, Type 1

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

38
Skin, Bone, Bone Marrow, Eye

Publications for Griscelli Syndrome, Type 1

Articles related to Griscelli Syndrome, Type 1:

# 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
# 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

GO Terms for Griscelli Syndrome, Type 1

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

# Name GO ID Score Top Affiliating Genes
1 secretory granule GO:0030141 9.13 ELANE MYO5A RAB27A
2 specific granule lumen GO:0035580 8.8 CXCL1 ELANE RAB27A

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

# Name GO ID Score Top Affiliating Genes
1 electron transport chain GO:0022900 9.54 AKR1B1 COX5A CYCS
2 melanosome transport GO:0032402 9.48 MYO5A RAB27A
3 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.46 COX5A CYCS
4 melanocyte differentiation GO:0030318 9.43 MYO5A RAB27A
5 leukocyte tethering or rolling GO:0050901 9.4 SELE SELP
6 positive regulation of smooth muscle cell proliferation GO:0048661 9.33 AIF1 AKR1B1 ELANE
7 leukocyte migration involved in inflammatory response GO:0002523 9.32 ELANE SELE
8 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008635 9.26 CASP9 CYCS
9 response to lipopolysaccharide GO:0032496 9.02 CASP9 CXCL1 ELANE SELE SELP
10 melanosome localization GO:0032400 8.96 MYO5A RAB27A

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.43 AKR1B1 COX5A CYCS
2 sialic acid binding GO:0033691 8.96 SELE SELP
3 oligosaccharide binding GO:0070492 8.62 SELE SELP
4 protein binding GO:0005515 10.09 CASP9 CDK4 COX5A CYCS EDC4 ELANE

Sources for Griscelli Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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