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Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Familial thrombocytosis

4 OMIM references -
3 associated genes
26 signs/symptoms

Pfeiffer syndrome type 1

Familial thrombocytosis

FGFR1	(UniProt - OMIM)		JAK2	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)		MPL	(UniProt - OMIM)
			THPO	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR1	(0.63)	JAK2

Citations in the biomedical literature:

Pfeiffer syndrome type 1		Familial thrombocytosis
	Synonym(s): - Classic Pfeiffer syndrome		Synonym(s): - Familial thrombocythemia - Hereditary thrombocythemia

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

	External references: No OMIM references No MeSH references		External references: 4 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Pfeiffer syndrome type 1		Familial thrombocytosis
	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 - 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 - Arterial embolism / thrombosis - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Platelet disorders / thrombopathies - Platelets shape anomalies - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Acute ischemia of the lower limbs - Acute ischemic syndrome - Facial pain / cephalalgia / migraine - Hyperhidrosis / increased sweating - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Pruritus / itching - Splenomegaly - Thoracic / chest pain - Transient cerebral ischemia / stroke Occasional - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Acute leukemia - Dizziness - Early death / lethality - Elocution disorders / dysarthria / dysphonia - Myelodysplastic syndrome - Myeloproliferative syndrome / chronic leukemia - Pulmonary hypertension - Seizures / epilepsy / absences / spasms / status epilepticus - Spontaneous abortions - Weight loss / loss of appetite / break in weight curve / general health alteration