ODCs

Click node...

Neuroectodermal melanolysosomal disease

1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Griscelli disease type 2

1 OMIM reference -
1 associated gene
21 signs/symptoms

Neuroectodermal melanolysosomal disease

Griscelli disease type 2

MYO5A

(UniProt - OMIM)

RAB27A

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MYO5A	(0.9)	RAB27A

Citations in the biomedical literature:

Neuroectodermal melanolysosomal disease		Griscelli disease type 2
	Synonym(s): - Elejalde disease - Elejalde syndrome		Synonym(s): - Griscelli-PruniÃ©ras syndrome type 2 - Hypopigmentation - immunodeficiency with or without neurologic impairment

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare immune disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		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: C536203		External references: 1 OMIM reference - 1 MeSH reference: C537302


COMMON SIGNS	- Decreased hair pigmentation / hypopigmentation of hair - Hypertonia / spasticity / rigidity / stiffness - Premature greying of hair - Seizures / epilepsy / absences / spasms / status epilepticus

Neuroectodermal melanolysosomal disease		Griscelli disease type 2
	Very frequent - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Movement disorder 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 - Macular dystrophy / absence / hypoplasia of the macula - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Repeat respiratory infections - Strabismus / squint		Very frequent - Autosomal recessive inheritance - Immunodeficiency / increased susceptibility to infections / recurrent infections - Irregular / patchy skin hypopigmentation Frequent - Hepatitis / icterus / cholestasis - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Lymphadenopathy / polyadenopathies - Polynuclear cells / neutrophils anomalies / neutropenia Occasional - Bone marrow failure / pancytopenia - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Fever / chilling - Iris albinism / ocular albinism - Lung / pulmonary infiltrates - Meningitis / meningeal syndrome - Nausea / vomiting / regurgitation / merycism / hyperemesis - Purpura / petichiae - Splenomegaly