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Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1

Sinoatrial node dysfunction and deafness

1 OMIM reference -
1 associated gene
No signs/symptoms info

Pfeiffer syndrome type 1

Sinoatrial node dysfunction and deafness

FGFR1	(UniProt - OMIM)		CACNA1D	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR2	(0.52)	CACNA1D

Citations in the biomedical literature:

Pfeiffer syndrome type 1		Sinoatrial node dysfunction and deafness
	Synonym(s): - Classic Pfeiffer syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - 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: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references

Pfeiffer syndrome type 1
	Very frequent - Autosomal dominant inheritance - 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 - Proptosis / exophthalmos - 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
Sinoatrial node dysfunction and deafness
(no data available)