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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
3 associated genes
12 signs/symptoms
Pediatric systemic lupus erythematosus
Bilateral striopallidodentate calcinosis

IRAK1 PDGFB
PTPN22 PDGFRB
SPP1 SLC20A2
STAT4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTPN22
(0.68)
PDGFRB



Citations in the biomedical literature:


Pediatric systemic lupus erythematosus
IRAK1 PTPN22 SPP1 STAT4
Bilateral striopallidodentate calcinosis
PDGFB PDGFRB SLC20A2



Pediatric systemic lupus erythematosus
Bilateral striopallidodentate calcinosis

Synonym(s):
- SLE, pediatric onset

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

Classification (Orphanet):
- Rare neurologic disease
- Rare renal disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

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

Bilateral striopallidodentate calcinosis

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



Pediatric systemic lupus erythematosus

(no data available)