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Cherubism
1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
Pilocytic astrocytoma
7 associated genes
No signs/symptoms info
Cherubism
Pilocytic astrocytoma

SH3BP2
(UniProt - OMIM)
 BRAF
(UniProt - OMIM)
FGFR1
(UniProt - OMIM)
KIAA1549
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
NTRK2
(UniProt - OMIM)
RAF1
(UniProt - OMIM)
SRGAP3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SH3BP2
(0.55)
FGFR1


Citations in the biomedical literature:


Cherubism
SH3BP2
Pilocytic astrocytoma
BRAF FGFR1 KIAA1549 KRAS NTRK2 RAF1
SRGAP3



Cherubism
Pilocytic astrocytoma

Synonym(s):
- CRBM
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
(no data available)
Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D002636
External references:
No OMIM references
No MeSH references
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


Pilocytic astrocytoma

(no data available)