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2 OMIM references -
1 associated gene
50 signs/symptoms

PROTEIN INTERACTIONS: 1

Essential thrombocythemia

3 OMIM references -
5 associated genes
17 signs/symptoms

EEC syndrome

Essential thrombocythemia

TP63	(UniProt - OMIM)		CALR	(UniProt - OMIM)
			JAK2	(UniProt - OMIM)
			MPL	(UniProt - OMIM)
			TET2	(UniProt - OMIM)
			TP53	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP63	(0.91)	TP53

Citations in the biomedical literature:

EEC syndrome		Essential thrombocythemia
	Synonym(s): - Ectrodactyly - ectodermal dysplasia - cleft lip/palate		Synonym(s): - ET - Essential thrombocytosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: adulthood Average age of death: normal Type of inheritance: sporadic

	External references: 2 OMIM references - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: D013920

EEC syndrome		Essential thrombocythemia
	Very frequent - Absent / decreased / thin eyebrows - Anodontia / oligodontia / hypodontia - Autosomal dominant inheritance - Coarse / thick hair - Complete / partial microdontia - Defect / anomaly of lacrimal system - Dry / squaly skin / exfoliation - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Enamel anomaly - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Multiple caries - Oligodactyly / ectrodactyly of fingers - Oligodactyly / ectrodactyly of toes - Taurodontia - Thick / bushy eyebrows Frequent - Agenesis / hypoplasia / aplasia of kidneys - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Cleft lip and palate - Corneal ulceration / perforation - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Photophobia - Skin hypoplasia / aplasia / atrophy - slow growth of the hair - Urethral anomalies / stenosis / posterior urethral valves / megalocystis Occasional - Breast tissue / mammary gland absence / aplasia - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Ectropion / entropion / eyelid eversion - External ear anomalies - Fine hair - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypoplastic / absent nipples - Hypospadias / epispadias / bent penis - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Intellectual deficit / mental / psychomotor retardation / learning disability - Lymphoma - Mouth dryness / xerostomia - Proximally set thumb - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Structural anomalies of middle ear / ossicles / tympanic cavity - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Thumb hypoplasia / aplasia / absence - Thymic aplasia / hypoplasia - Vesicorenal / vesicoureteral reflux		Very frequent - Acute ischemic syndrome - Angor pectoris / myocardial infarction - Arterial embolism / thrombosis - Bone marrow anomalies - Cerebral vascular anomalies - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Platelet disorders / thrombopathies - Platelets shape anomalies - Thoracic / chest pain - Transient amaurosis / acute visual trouble - Transient cerebral ischemia / stroke - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Splenomegaly Occasional - Acute leukemia - Myelodysplastic syndrome - Myeloproliferative syndrome / chronic leukemia