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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

Bullous diffuse cutaneous mastocytosis

1 associated gene
7 signs/symptoms

Cherubism

Bullous diffuse cutaneous mastocytosis

(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		Bullous diffuse cutaneous mastocytosis
	Synonym(s): - CRBM		Synonym(s): - Bullous DCM

	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: <1 / 1 000 000 Average age onset: neonatal/infancy 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		Bullous diffuse cutaneous mastocytosis
	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 - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Mastocytosis - Pruritus / itching - Urticaria - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest