ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

Congenital atransferrinemia

1 OMIM reference -
1 associated gene
8 signs/symptoms

Cherubism

Congenital atransferrinemia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SH3BP2	(0.63)	TF

Citations in the biomedical literature:

Cherubism		Congenital atransferrinemia
	Synonym(s): - CRBM		Synonym(s): - Congenital hypotransferrinemia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): - Diseases of the digestive system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D002636		External references: 1 OMIM reference - 1 MeSH reference: C538259

Cherubism		Congenital atransferrinemia
	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 - Anaemia - Autosomal recessive inheritance Frequent - Immunodeficiency / increased susceptibility to infections / recurrent infections - Storage liver disease Occasional - Arthritis / synovitis / synovial proliferation - Hypothyroidy - Structural anomalies of the cardio-circulatory system - Structural anomalies of the pancreas