Griscelli disease type 3

General Information (adopted from Orphanet):

Synonyms, Signs: GS3
Griscelli-Pruniéras syndrome type 3
Number of Symptoms 12
OrphanetNr: 79478
OMIM Id: 609227
ICD-10: E70.3
UMLs: C1836573
MeSH: C537303
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Griscelli disease
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0002227) White eyelashes 11 / 7739
2
 (HPO:0001107) Ocular albinism Occasional [Orphanet] 40 / 7739
3
 (HPO:0002218) Silver-gray hair 6 / 7739
4
 (HPO:0004527) Large clumps of pigment irregularly distributed along hair shaft 1 / 7739
5
 (HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] 46 / 7739
6
 (HPO:0005599) Hypopigmentation of hair Very frequent [Orphanet] 38 / 7739
7
 (OMIM) No neurologic abnormalities 1 / 7739
8
 (OMIM) Silver-gray eyelashes 1 / 7739
9
 (HPO:0001425) Heterogeneous 132 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (OMIM) No immunologic abnormalities 2 / 7739
12
 (OMIM) Silver-gray eyebrows 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sanal et al. (2002) reported 2 patients with silver-gray hair, eyebrows, and eyelashes who had large clumps of pigment, typical of Griscelli syndrome, on microscopic analysis of their hair shafts. The patients developed no other manifestations over 6 ...
Molecular genetics OMIM In the 2 patients reported by Sanal et al. (2002) with hypopigmentation without any immunologic or neurologic manifestations, Menasche et al. (2003) identified a homozygous mutation in the MLPH gene (606526.0001) in 1 patient and homozygous deletion of ...