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Familial thrombocytosis

4 OMIM references -
3 associated genes
26 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
40 signs/symptoms

Familial thrombocytosis

SHORT syndrome

JAK2	(UniProt - OMIM)		PIK3R1	(UniProt - OMIM)
MPL	(UniProt - OMIM)
THPO	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JAK2	(0.89)	PIK3R1

Citations in the biomedical literature:

Familial thrombocytosis		SHORT syndrome
	Synonym(s): - Familial thrombocythemia - Hereditary thrombocythemia		Synonym(s): - Aarskog-Ose-Pande syndrome - Lipodystrophy - Rieger anomaly - diabetes - Rieger anomaly - partial lipodystrophy

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal 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 dominant

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537327


COMMON SIGNS	- Autosomal dominant inheritance - Weight loss / loss of appetite / break in weight curve / general health alteration

Familial thrombocytosis		SHORT syndrome
	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		Very frequent - Aniridia / iris hypoplasia - Anterior chamber anomaly - Deepset eyes / enophthalmos - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism Frequent - Abnormal fat distribution / lipodystrophy - Anomalies of teeth and dentition - Complete / partial microdontia - Diabetes mellitus - Enamel anomaly - Face / facial anomalies - Glaucoma - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Insulin resistance - Megalocornea - Mid-facial hypoplasia / short / small midface - Pupillary anomalies / mydriasis / myosis / tonic pupil - Rippled skin - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Broad nasal root - Clinodactyly of fifth finger - Corneal clouding / opacity / vascularisation - Embryotoxon - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Iridocorneal dysgenesis / iridogoniodysgenesis - Micrognathia / retrognathia / micrognathism / retrognathism - Myotonia - Prominent supraorbital ridge - Short hand / brachydactyly - Telecanthus / canthal dystopy - Triangular face - Upper limb polydactyly / hexadactyly - Urinary / renal lithiasis / kidney stones / nephritic colic