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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 3
9 associated genes
8 signs/symptoms
Short stature due to partial GHR deficiency
Juvenile rheumatoid factor-negative polyarthritis

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
Juvenile rheumatoid factor-negative polyarthritis
ANKRD55 CD247 FAS IL2RA IL2RB PTPN2
PTPN22 STAT4 TYK2



Short stature due to partial GHR deficiency
Juvenile rheumatoid factor-negative polyarthritis

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

Synonym(s):
- Polyarthritis without rheumatoid factor

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: 1-9 / 100 000
Average age onset: -
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

Juvenile rheumatoid factor-negative polyarthritis

Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Autoimmunity / autoimmune reaction / autoantibodies
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Hydrarthrosis / articular / joint effusion
- Joint / articular deformation
- Restricted joint mobility / joint stiffness / ankylosis



Short stature due to partial GHR deficiency

(no data available)