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Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1

Autosomal recessive lymphoproliferative disease

2 OMIM references -
2 associated genes
No signs/symptoms info

Pfeiffer syndrome type 1

Autosomal recessive lymphoproliferative disease

FGFR1	(UniProt - OMIM)		CD27	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)		ITK	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR1	(0.49)	ITK

Citations in the biomedical literature:

Pfeiffer syndrome type 1		Autosomal recessive lymphoproliferative disease
	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 genetic disease - Rare immune disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 2 OMIM references - 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
Autosomal recessive lymphoproliferative disease
(no data available)