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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Typical urticaria pigmentosa
Metachondromatosis

KIT PTPN11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KIT
(0.9)
PTPN11



Citations in the biomedical literature:


Typical urticaria pigmentosa
KIT
Metachondromatosis
PTPN11



Typical urticaria pigmentosa
Metachondromatosis

Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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

Metachondromatosis

Very frequent
- Autosomal dominant inheritance
- Bone pain
- Cranial nerves palsy
- Enchondroses
- Epiphyseal anomaly
- Exostoses
- Metaphyseal anomaly
- Osteonecrosis / bone infarction
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Periarticular tissue anomaly / extraarticular calcifications



Typical urticaria pigmentosa

(no data available)