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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Pediatric systemic lupus erythematosus
Lissencephaly type 1 due to doublecortin gene mutation

IRAK1 DCX
PTPN22
SPP1
STAT4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SPP1
(0.63)
DCX



Citations in the biomedical literature:


Pediatric systemic lupus erythematosus
IRAK1 PTPN22 SPP1 STAT4
Lissencephaly type 1 due to doublecortin gene mutation
DCX



Pediatric systemic lupus erythematosus
Lissencephaly type 1 due to doublecortin gene mutation

Synonym(s):
- SLE, pediatric onset

Synonym(s):
- X-linked lissencephaly type 1

Classification (Orphanet):
- Rare neurologic disease
- Rare renal disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: x-linked recessive

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

Lissencephaly type 1 due to doublecortin gene mutation

Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia



Pediatric systemic lupus erythematosus

(no data available)