ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
2 associated genes
20 signs/symptoms

Cherubism

Piebaldism

SH3BP2	(UniProt - OMIM)		KIT	(UniProt - OMIM)
			SNAI2	(UniProt - OMIM)


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

Citations in the biomedical literature:

Cherubism		Piebaldism
	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): - Rare eye disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the digestive system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D002636		External references: 1 OMIM reference - 1 MeSH reference: D016116


COMMON SIGNS	- Autosomal dominant inheritance

Cherubism		Piebaldism
	Very frequent - 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 - Decreased hair pigmentation / hypopigmentation of hair - Irregular / patchy skin hypopigmentation - White forelock / piebaldism Frequent - Anomalies of eyelids, eyelashes and lacrimal system - Irregular / in bands / reticular skin hyperpigmentation - Macules Occasional - Anomalies of mouth, lip and philtrum - Ataxia / incoordination / trouble of the equilibrium - Brachycephaly / flat occiput - Broad nasal root - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Microcephaly - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Synophris / synophrys