Cytoscape Web
Click node...

Griscelli disease type 3
1 OMIM reference -
2 associated genes
16 connected diseases
3 signs/symptoms
Disease Type of connection
Griscelli disease type 1
Neuroectodermal melanolysosomal disease
Griscelli disease type 2
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Spondylometaphyseal dysplasia - cone-rod dystrophy
Amyotrophic lateral sclerosis
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 1F
Severe early-onset axonal neuropathy due to NEFL deficiency
Synonym(s):
- Griscelli-Pruniéras syndrome type 3
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537303
Gene symbol UniProt reference OMIM reference
MLPH Q9BV36606526
MYO5A Q9Y4I1160777
Very frequent
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hypopigmentation / cutaneous albinism

Occasional
- Iris albinism / ocular albinism