Griscelli disease

General Information (adopted from Orphanet):

Synonyms, Signs: Griscelli-Pruniéras syndrome
Chediak-Higashi like syndrome
Partial albinism-immunodeficiency
Number of Symptoms 41
OrphanetNr: 381
OMIM Id: 214450
607624
609227
ICD-10: E70.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 60 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic oculocutaneous albinism
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease

Comment:

This is a group of diseases that includes Griscelli syndrome, type 1; Griscelli syndrome, type 2; Griscelli syndrome, type 3.

Symptom Information: Sort by abundance 

1
 (HPO:0000534) Abnormality of the eyebrow Occasional [Orphanet] 39 / 7739
2
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
3
 (HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
4
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
5
 (HPO:0001107) Ocular albinism Occasional [Orphanet] 40 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
8
 (HPO:0100022) Abnormality of movement Occasional [Orphanet] 129 / 7739
9
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
12
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
13
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
14
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
15
 (HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
16
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
17
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
18
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
19
 (HPO:0001008) Accumulation of melanosomes in melanocytes 4 / 7739
20
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
21
 (HPO:0002218) Silver-gray hair 6 / 7739
22
 (HPO:0002216) Premature graying of hair Very frequent [Orphanet] 43 / 7739
23
 (HPO:0002220) Melanin pigment aggregation in hair shafts 4 / 7739
24
 (HPO:0001010) Hypopigmentation of the skin 46 / 7739
25
 (HPO:0001022) Albinism Very frequent [Orphanet] 43 / 7739
26
 (HPO:0001874) Abnormality of neutrophils Frequent [Orphanet] 47 / 7739
27
 (HPO:0001873) Thrombocytopenia Frequent [Orphanet] 224 / 7739
28
 (HPO:0010701) Abnormal immunoglobulin level Frequent [Orphanet] 49 / 7739
29
 (HPO:0001882) Leukopenia Frequent [Orphanet] 51 / 7739
30
 (HPO:0001876) Pancytopenia Occasional [Orphanet] 89 / 7739
31
 (HPO:0001945) Fever Occasional [Orphanet] 218 / 7739
32
 (HPO:0010741) Edema of the lower limbs Occasional [Orphanet] 34 / 7739
33
 (HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 60 / 7739
34
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
35
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
36
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
37
 (HPO:0003593) Infantile onset 249 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
40
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
41
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: