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Griscelli disease type 3

1 OMIM reference -
2 associated genes
3 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

Griscelli disease type 2

1 OMIM reference -
1 associated gene
21 signs/symptoms

Griscelli disease type 3

Griscelli disease type 2

MLPH	(UniProt - OMIM)		RAB27A	(UniProt - OMIM)
MYO5A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MLPH MYO5A	(0.97) (0.9)	RAB27A RAB27A

Citations in the biomedical literature:

Griscelli disease type 3		Griscelli disease type 2
	Synonym(s): - Griscelli-PruniÃ©ras syndrome type 3		Synonym(s): - Griscelli-PruniÃ©ras syndrome type 2 - Hypopigmentation - immunodeficiency with or without neurologic impairment

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare immune disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		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		External references: 1 OMIM reference - 1 MeSH reference: C537302


COMMON SIGNS	- Decreased hair pigmentation / hypopigmentation of hair - Iris albinism / ocular albinism

Griscelli disease type 3		Griscelli disease type 2
	Very frequent - Diffuse / generalised skin hypopigmentation / cutaneous albinism		Very frequent - Autosomal recessive inheritance - Immunodeficiency / increased susceptibility to infections / recurrent infections - Irregular / patchy skin hypopigmentation - Premature greying of hair 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 - Hypertonia / spasticity / rigidity / stiffness - Lung / pulmonary infiltrates - Meningitis / meningeal syndrome - Nausea / vomiting / regurgitation / merycism / hyperemesis - Purpura / petichiae - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly