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Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Griscelli disease type 2

1 OMIM reference -
1 associated gene
21 signs/symptoms

Cystic fibrosis

Griscelli disease type 2

CFTR	(UniProt - OMIM)		RAB27A	(UniProt - OMIM)
CLCA4	(UniProt)
DCTN4	(UniProt - OMIM)
STX1A	(UniProt - OMIM)
TGFB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STX1A	(0.55)	RAB27A

Citations in the biomedical literature:

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

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory 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: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: young adult 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: D003550		External references: 1 OMIM reference - 1 MeSH reference: C537302


COMMON SIGNS	- Autosomal recessive inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Immunodeficiency / increased susceptibility to infections / recurrent infections

Cystic fibrosis		Griscelli disease type 2
	Very frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Lung fibrosis - Malabsorption / chronic diarrhea / steatorrhea - Repeat respiratory infections - Structural anomalies of the liver and the biliary tract - Structural anomalies of the pancreas		Very frequent - Decreased hair pigmentation / hypopigmentation of hair - Irregular / patchy skin hypopigmentation - Premature greying of hair Frequent - Hepatitis / icterus / cholestasis - 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