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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 3
9 associated genes
5 signs/symptoms
Short stature due to partial GHR deficiency
Oligoarticular juvenile arthritis

GHR ANKRD55
CD247
FAS
IL2RA
IL2RB
PTPN2
PTPN22
STAT4
TYK2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GHR
GHR
GHR
(0.79)
(0.73)
(0.68)
PTPN2
TYK2
PTPN22



Citations in the biomedical literature:


Short stature due to partial GHR deficiency
GHR
Oligoarticular juvenile arthritis
ANKRD55 CD247 FAS IL2RA IL2RB PTPN2
PTPN22 STAT4 TYK2



Short stature due to partial GHR deficiency
Oligoarticular juvenile arthritis

Synonym(s):
- Short stature due to partial growth hormone receptor deficiency

Synonym(s):
- Pauciarticular chronic arthritis

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
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:
1 OMIM reference -
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



Short stature due to partial GHR deficiency

(no data available)