ODCs

Cytoscape Web

Click node...

Spastic paraplegia type 2

1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1

Essential thrombocythemia

3 OMIM references -
5 associated genes
17 signs/symptoms

Spastic paraplegia type 2

Essential thrombocythemia

PLP1	(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)	PLP1	(0.55)	CALR

Citations in the biomedical literature:

Spastic paraplegia type 2		Essential thrombocythemia
	Synonym(s): - SPG2 - Spastic gait type 2 - Spastic paraparesis type 2 - X-linked spastic paraplegia type 2		Synonym(s): - ET - Essential thrombocytosis

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: adult Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: adulthood Average age of death: normal Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C536857		External references: 3 OMIM references - 1 MeSH reference: D013920

Spastic paraplegia type 2		Essential thrombocythemia
	Very frequent - Abnormal gait - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Muscle weakness / flaccidity - X-linked dominant inheritance - X-linked recessive inheritance Frequent - Bladder and ureter anomalies - Encopresis / fecal incontinence - Extrapyramidal syndrome - Intellectual deficit / mental / psychomotor retardation / learning disability - Motor deficit / trouble - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria Occasional - Ataxia / incoordination / trouble of the equilibrium - Elocution disorders / dysarthria / dysphonia - Nystagmus - Pulmonary thromboembolism - Repeat respiratory infections - Restricted joint mobility / joint stiffness / ankylosis - Sensitive trouble / deficit		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