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Neuroectodermal melanolysosomal disease
1 OMIM reference -
1 associated gene
10 connected diseases
20 signs/symptoms
Disease Type of connection
Griscelli disease type 3
Griscelli disease type 1
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):
- Elejalde disease
- Elejalde syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C536203
Gene symbol UniProt reference OMIM reference
MYO5A Q9Y4I1160777
Very frequent
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Movement disorder
- Premature greying of hair
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Myopia
- Tremor

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Early death / lethality
- Hypertonia / spasticity / rigidity / stiffness
- Macular dystrophy / absence / hypoplasia of the macula
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Repeat respiratory infections
- Strabismus / squint