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Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 2

Hypercalcemic tumoral calcinosis

1 OMIM reference -
3 associated genes
No signs/symptoms info

Pfeiffer syndrome type 1

Hypercalcemic tumoral calcinosis

FGFR1	(UniProt - OMIM)		FGF23	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)		GALNT3	(UniProt - OMIM)
			KL	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR1 FGFR2	(0.63) (0.52)	FGF23 FGF23

Citations in the biomedical literature:

Pfeiffer syndrome type 1		Hypercalcemic tumoral calcinosis
	Synonym(s): - Classic Pfeiffer syndrome		Synonym(s): - GALNT3-CDG

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - 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
Hypercalcemic tumoral calcinosis
(no data available)