ODCs

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1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Spastic paraplegia type 2

Progressive epilepsy - intellectual deficit, Finnish type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLP1	(0.63)	CLN8

Citations in the biomedical literature:

Spastic paraplegia type 2		Progressive epilepsy - intellectual deficit, Finnish type
	Synonym(s): - SPG2 - Spastic gait type 2 - Spastic paraparesis type 2 - X-linked spastic paraplegia type 2		Synonym(s): - CLN8 disease, Northern epilepsy variant - NCL, Northern epilepsy variant - Neuronal ceroid lipofuscinosis, Northern epilepsy variant - Northern epilepsy

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536857		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Spastic paraplegia type 2		Progressive epilepsy - intellectual deficit, Finnish type
	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 - 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 - Autosomal recessive inheritance - EEG anomalies - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Visual loss / blindness / amblyopia Frequent - Psychosis / schizophrenia / maniac disorder