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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

Cherubism

Pfeiffer syndrome type 1

SH3BP2	(UniProt - OMIM)		FGFR1	(UniProt - OMIM)
			FGFR2	(UniProt - OMIM)


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

Citations in the biomedical literature:

Cherubism		Pfeiffer syndrome type 1
	Synonym(s): - CRBM		Synonym(s): - Classic Pfeiffer syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Proptosis / exophthalmos

Cherubism		Pfeiffer syndrome type 1
	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 - Visual loss / blindness / amblyopia		Very frequent - Brachycephaly / flat occiput - Broad / bifid big toe - Broad / bifid thumb - Depressed nasal bridge - High forehead - High vaulted / narrow palate - Hypertelorism - Mid-facial hypoplasia / short / small midface - Short big toe - Short / small nose - Thumb hypoplasia / aplasia / absence Frequent - Low set ears / posteriorly rotated ears - Short foot / brachydactyly of toes - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Hearing loss / hypoacusia / deafness - Stenosis of aqueduc of Sylvius