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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
No signs/symptoms info
Hemimegalencephaly
Autosomal recessive systemic lupus erythematosus

AKT3 DNASE1L3
PIK3CA PRKCD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AKT3
PIK3CA
(0.55)
(0.52)
PRKCD
PRKCD



Citations in the biomedical literature:


Hemimegalencephaly
AKT3 PIK3CA
Autosomal recessive systemic lupus erythematosus
DNASE1L3 PRKCD



Hemimegalencephaly
Autosomal recessive systemic lupus erythematosus

Synonym(s):
- Unilateral megalencephaly

Synonym(s):
- Autosomal recessive SLE
- Familial SLE
- Familial systemic lupus erythematosus

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.