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1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
9 associated genes
8 signs/symptoms
Hereditary sensory and autonomic neuropathy type 4
Juvenile rheumatoid factor-negative polyarthritis

NTRK1 ANKRD55
CD247
FAS
IL2RA
IL2RB
PTPN2
PTPN22
STAT4
TYK2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NTRK1
(0.68)
PTPN22



Citations in the biomedical literature:


Hereditary sensory and autonomic neuropathy type 4
NTRK1
Juvenile rheumatoid factor-negative polyarthritis
ANKRD55 CD247 FAS IL2RA IL2RB PTPN2
PTPN22 STAT4 TYK2



Hereditary sensory and autonomic neuropathy type 4
Juvenile rheumatoid factor-negative polyarthritis

Synonym(s):
- HSAN4
- Insensitivity to pain - anhidrosis
- NHSA4

Synonym(s):
- Polyarthritis without rheumatoid factor

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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

Hereditary sensory and autonomic neuropathy type 4
Juvenile rheumatoid factor-negative polyarthritis

Very frequent
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Insensitivity to pain
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Osteosclerosis / osteopetrosis / bone condensation
- Psychic / behavioural troubles

Occasional
- Dental staining anomaly / spotted teeth / erythrodontia
- Thick skin / pachydermia / orange skin
- Tight skin / lack of elasticity


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