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Spastic paraplegia type 2

1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Huntington disease

1 OMIM reference -
1 associated gene
8 signs/symptoms

Spastic paraplegia type 2

Huntington disease

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLP1	(0.68)	HTT

Citations in the biomedical literature:

Spastic paraplegia type 2		Huntington disease
	Synonym(s): - SPG2 - Spastic gait type 2 - Spastic paraparesis type 2 - X-linked spastic paraplegia type 2		Synonym(s): - Huntington chorea

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

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

	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: 1-9 / 100 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536857		External references: 1 OMIM reference - 1 MeSH reference: D006816


COMMON SIGNS	- Hypertonia / spasticity / rigidity / stiffness

Spastic paraplegia type 2		Huntington disease
	Very frequent - Abnormal gait - Hypereflexia - 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		Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Autosomal dominant inheritance - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Movement disorder - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline