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Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1

Torg-Winchester syndrome

2 OMIM references -
2 associated genes
22 signs/symptoms

Pfeiffer syndrome type 1

Torg-Winchester syndrome

FGFR1	(UniProt - OMIM)		MMP14	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)		MMP2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR1	(0.55)	MMP2

Citations in the biomedical literature:

Pfeiffer syndrome type 1		Torg-Winchester syndrome
	Synonym(s): - Classic Pfeiffer syndrome		Synonym(s): - Winchester syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: <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 - 1 MeSH reference: C536051

Pfeiffer syndrome type 1		Torg-Winchester syndrome
	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		Very frequent - Arthritis / synovitis / synovial proliferation - Autosomal recessive inheritance - Claw hand / retracted fingers - Epiphyseal anomaly - Metaphyseal anomaly - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Tarsal anomaly / fusion / synostosis - Wrist / carpal anomalies Frequent - Coarse face - Corneal clouding / opacity / vascularisation - Frontal bossing / prominent forehead - Hirsutism / hypertrichosis / Increased body hair - Irregular / in bands / reticular skin hyperpigmentation - Long / large / bulbous nose - Thick lips - Thick skin / pachydermia / orange skin - Thickened / hypertrophic / fibromatous gingivae Occasional - Atrial septal defect / interauricular communication - Subcutaneous nodules / lipomas / tumefaction / swelling