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Griscelli disease type 1
1 OMIM reference -
1 associated gene
10 connected diseases
12 signs/symptoms
Disease Type of connection
Griscelli disease type 3
Neuroectodermal melanolysosomal disease
Griscelli disease type 2
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 1
- Hypopigmentation - neurologic impairment
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C537301
Gene symbol UniProt reference OMIM reference
MYO5A Q9Y4I1160777
Very frequent
- Albinism (hair)
- Ataxia / incoordination / trouble of the equilibrium
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Hypertonia / spasticity / rigidity / stiffness
- Iris albinism / ocular albinism
- Movement disorder
- Nystagmus
- Premature greying of hair
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Occasional
- Intracranial / cerebral calcifications