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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
9 associated genes
5 signs/symptoms
Severe congenital nemaline myopathy
Oligoarticular juvenile arthritis

ACTA1 ANKRD55
KLHL40 CD247
KLHL41 FAS
NEB IL2RA
IL2RB
PTPN2
PTPN22
STAT4
TYK2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.63)
PTPN22



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Oligoarticular juvenile arthritis
ANKRD55 CD247 FAS IL2RA IL2RB PTPN2
PTPN22 STAT4 TYK2



Severe congenital nemaline myopathy
Oligoarticular juvenile arthritis

Synonym(s):
(no synonyms)

Synonym(s):
- Pauciarticular chronic arthritis

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: multigenic/multifactorial

External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references

Oligoarticular juvenile arthritis

Very frequent
- Articular / joint pain / arthralgia
- Autoimmunity / autoimmune reaction / autoantibodies
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Hydrarthrosis / articular / joint effusion

Frequent
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis



Severe congenital nemaline myopathy

(no data available)