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PROTEIN INTERACTIONS: 1
4 OMIM references -
3 associated genes
12 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Bilateral striopallidodentate calcinosis

IRF8 PDGFB
PDGFRB
SLC20A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IRF8
(0.63)
PDGFRB



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
IRF8
Bilateral striopallidodentate calcinosis
PDGFB PDGFRB SLC20A2



Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Bilateral striopallidodentate calcinosis

Synonym(s):
- MSMD due to partial IRF8 deficiency
- MSMD due to partial interferon regulatory factor 8 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency

Synonym(s):
- BSPDC
- Cerebrovascular ferrocalcinosis
- Idiopathic basal ganglia calcification

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Bilateral striopallidodentate calcinosis

Very frequent
- Autosomal dominant inheritance
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lymphadenopathy / polyadenopathies



Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Autosomal recessive inheritance
- Dilated cerebral ventricles without hydrocephaly
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intracranial / cerebral calcifications
- Intrauterine growth retardation
- Microcephaly
- Purpura / petichiae
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thrombocytopenia / thrombopenia

Frequent
- Corneal clouding / opacity / vascularisation
- Structural anomalies of the liver and the biliary tract