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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Lymphoadenopathic mastocytosis with eosinophilia
Cherubism

KIT SH3BP2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KIT
(0.72)
SH3BP2



Citations in the biomedical literature:


Lymphoadenopathic mastocytosis with eosinophilia
KIT
Cherubism
SH3BP2



Lymphoadenopathic mastocytosis with eosinophilia
Cherubism

Synonym(s):
(no synonyms)

Synonym(s):
- CRBM

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
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 -
1 MeSH reference: D002636

Cherubism

Very frequent
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Enlargment of jaw / large jaw
- High cheek bones

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anodontia / oligodontia / hypodontia
- Tooth shape anomaly

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Apnea / sleep apnea
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Proptosis / exophthalmos
- Visual loss / blindness / amblyopia


Lymphoadenopathic mastocytosis with eosinophilia

(no data available)