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Spastic paraplegia type 2
1 OMIM reference -
1 associated gene
11 connected diseases
20 signs/symptoms
Disease Type of connection
Null syndrome
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, transitional form
Huntington disease
Juvenile Huntington disease
CLN8 disease
Progressive epilepsy - intellectual deficit, Finnish type
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Synonym(s):
- SPG2
- Spastic gait type 2
- Spastic paraparesis type 2
- X-linked spastic paraplegia type 2
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
1 MeSH reference: C536857
Gene symbol UniProt reference OMIM reference
PLP1 P60201300401
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