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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

Cutaneous mastocytoma

1 associated gene
11 signs/symptoms

Cherubism

Cutaneous mastocytoma

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Cherubism		Cutaneous mastocytoma
	Synonym(s): - CRBM		Synonym(s): - Cutaneous local mastocytoma - Multiple mastocytoma - Solitary mastocytoma

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

	Classification (ICD10): - Diseases of the digestive system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: unknown Average age onset: variable Average age of death: normal Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: D002636		External references: No OMIM references 1 MeSH reference: D054705

Cherubism		Cutaneous mastocytoma
	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		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Macules - Mastocytosis - Pruritus / itching - Subcutaneous nodules / lipomas / tumefaction / swelling - Urticaria - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Thick skin / pachydermia / orange skin Occasional - Acute abdominal pain / colic - Facial pain / cephalalgia / migraine - Hot flushes / sensation of cold