Griscelli disease type 1

General Information (adopted from Orphanet):

Synonyms, Signs: GRISCELLI SYNDROME WITH NEUROLOGIC IMPAIRMENT
PARTIAL ALBINISM AND PRIMARY NEUROLOGIC DISEASE WITHOUT HEMOPHAGOCYTIC SYNDROME
GRISCELLI SYNDROME, CUTANEOUS AND NEUROLOGIC TYPE
GS1
Griscelli-Pruniéras syndrome type 1
Hypopigmentation-neurologic impairment
Number of Symptoms 22
OrphanetNr: 79476
OMIM Id: 214450
ICD-10: E70.3
UMLs: C1859194
MeSH: C537301
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Brain inflammatory disease
 -Rare neurologic disease
Griscelli disease
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 11170073 IBIS 555 / 7739
2
 (HPO:0001107) Ocular albinism Very frequent [Orphanet] 11170073 IBIS 40 / 7739
3
 (HPO:0001263) Global developmental delay 11170073 IBIS 853 / 7739
4
 (HPO:0001250) Seizures Very frequent [Orphanet] 11170073 IBIS 1245 / 7739
5
 (HPO:0001249) Intellectual disability 9207796 IBIS 1089 / 7739
6
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
7
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 11170073 IBIS 327 / 7739
8
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
9
 (HPO:0001022) Albinism Very frequent [Orphanet] 707528 IBIS 43 / 7739
10
 (HPO:0002220) Melanin pigment aggregation in hair shafts 10052404 IBIS 4 / 7739
11
 (HPO:0002216) Premature graying of hair Very frequent [Orphanet] 43 / 7739
12
 (HPO:0002218) Silver-gray hair 11170073 IBIS 6 / 7739
13
 (HPO:0001008) Accumulation of melanosomes in melanocytes 10835631 IBIS 4 / 7739
14
 (HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] 46 / 7739
15
 (HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 60 / 7739
16
 (HPO:0010547) Muscle flaccidity 10052404 IBIS 466 / 7739
17
 (HPO:0008947) Infantile muscular hypotonia 10052404 IBIS 482 / 7739
18
 (HPO:0001252) Muscular hypotonia 10052404 IBIS 990 / 7739
19
 (OMIM) No immunologic abnormalities 11170073 IBIS 2 / 7739
20
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 9207796 IBIS 949 / 7739
21
 (OMIM) Roving eye movements 19318926 IBIS 3 / 7739
22
 (OMIM) Poor visual fixation 4 / 7739

Associated genes:

MYO5A;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM As the original patients described by Griscelli et al. (1978) manifested signs of an immune dysfunction, these patients are discussed in the entry for GS2 (607624).

Pastural et al. (1997, 2000) described patients with Griscelli syndrome ...
Molecular genetics OMIM Pastural et al. (1997) used linkage analysis in 3 consanguineous families and 1 nonconsanguineous family to map Griscelli syndrome to 15q21. Because of the similarities to the phenotype in the 'dilute' mouse, which is due to mutation in ...