ODCs

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5 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Familial hemophagocytic lymphohistiocytosis

Griscelli disease type 2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	UNC13D	(0.76)	RAB27A

Citations in the biomedical literature:

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

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy 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: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537302

Griscelli disease type 2
	Very frequent - Autosomal recessive inheritance - Decreased hair pigmentation / hypopigmentation of hair - 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 - Iris albinism / ocular albinism - Lung / pulmonary infiltrates - Meningitis / meningeal syndrome - Nausea / vomiting / regurgitation / merycism / hyperemesis - Purpura / petichiae - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly
Familial hemophagocytic lymphohistiocytosis
(no data available)