MCID: GRS013
MIFTS: 47

Griscelli Syndrome, Type 1

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

Aliases & Classifications for Griscelli Syndrome, Type 1

MalaCards integrated aliases for Griscelli Syndrome, Type 1:

Name: Griscelli Syndrome, Type 1 57 13 55 40 73
Griscelli Syndrome Type 1 12 53 29 6 44 15
Gs1 57 12 53 75
Partial Albinism and Primary Neurologic Disease Without Hemophagocytic Syndrome 57 53
Griscelli Syndrome, Cutaneous and Neurologic Type 57 53
Hypopigmentation-Neurologic Impairment Syndrome 12 59
Griscelli Syndrome with Neurologic Impairment 57 53
Griscelli-Pruniéras Syndrome Type 1 12 59
Pigmentary Dilution of the Skin and Hair, the Presence of Large Clumps of Pigment in Hair Shafts 53
Griscelli Syndrome with Primary Neurologic Impairment 75
Griscelli Syndrome, Cutaneous and Neurological Type 12
Griscelli Syndrome with Neurological Impairment 12
Griscelli Disease Type 1 59
Griscelli Syndrome 1 75

Characteristics:

Orphanet epidemiological data:

59
griscelli disease type 1
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
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 : 57 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 seizures 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 nystagmus and diplopia

UniProtKB/Swiss-Prot : 75 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.

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.

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 32.4 COX5A MYO5A RAB27A
2 griscelli syndrome, type 2 11.5
3 griscelli syndrome, type 3 11.5
4 acrocephalopolydactylous dysplasia 11.0
5 legg-calve-perthes disease 10.1 PEPD SELE SELP
6 autoinflammation, lipodystrophy, and dermatosis syndrome 9.7 ELANE SELE SELP
7 carbuncle 9.7 CASP9 CDK4 CYCS
8 actinic prurigo 9.2 ICAM3 SELE

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:

57
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:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 diplopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000651
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
6 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
9 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
10 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0100022
11 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
12 hyperlipidemia 59 32 frequent (33%) Frequent (79-30%) HP:0003077
13 white hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0011364
14 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
15 partial albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0007443
16 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
17 muscular hypotonia 32 HP:0001252
18 hypopigmentation of the skin 32 HP:0001010
19 silver-gray hair 32 HP:0002218
20 accumulation of melanosomes in melanocytes 32 HP:0001008
21 melanin pigment aggregation in hair shafts 32 HP:0002220

UMLS symptoms related to Griscelli Syndrome, Type 1:


seizures

MGI Mouse Phenotypes related to Griscelli Syndrome, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 MYO5A RAB27A SELE SELP TP63 AKR1B1
2 growth/size/body region MP:0005378 10.18 AKR1B1 CASP9 CDK4 CYCS GABBR1 GLUL
3 hematopoietic system MP:0005397 10.15 AIF1 CASP9 CDK4 CYCS EDC4 ELANE
4 immune system MP:0005387 10.13 PEPD RAB27A SELE SELP TP63 AIF1
5 cardiovascular system MP:0005385 10.09 AIF1 CASP9 CDK4 CYCS GPSM3 PEPD
6 mortality/aging MP:0010768 9.97 TP63 AKR1B1 CASP9 CDK4 CYCS EDC4
7 integument MP:0010771 9.86 CDK4 GABBR1 MYO5A PEPD RAB27A SELE
8 nervous system MP:0003631 9.7 RAB27A SELP AIF1 CASP9 CDK4 CYCS
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 29 MYO5A

Anatomical Context for Griscelli Syndrome, Type 1

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

41
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 extracellular exosome GO:0070062 9.81 AKR1B1 COX5A ELANE GLUL HIST1H1B ICAM3
2 secretory granule GO:0030141 9.13 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:

# Name GO ID Score Top Affiliating Genes
1 electron transport chain GO:0022900 9.54 AKR1B1 COX5A CYCS
2 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.48 COX5A CYCS
3 melanosome transport GO:0032402 9.46 MYO5A RAB27A
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 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008635 9.32 CASP9 CYCS
8 leukocyte migration involved in inflammatory response GO:0002523 9.26 ELANE SELE
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 9.33 AKR1B1 COX5A CYCS
2 oligosaccharide binding GO:0070492 8.96 SELE SELP
3 sialic acid binding GO:0033691 8.62 SELE SELP

Sources for Griscelli Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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