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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
4 associated genes
9 signs/symptoms
Autosomal dominant spastic paraplegia type 13
Pontocerebellar hypoplasia type 1

HSPD1 EXOSC3
RARS2
TSEN54
VRK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.63)
VRK1



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Pontocerebellar hypoplasia type 1
EXOSC3 RARS2 TSEN54 VRK1



Autosomal dominant spastic paraplegia type 13
Pontocerebellar hypoplasia type 1

Synonym(s):
- SPG13

Synonym(s):
- Norman disease
- PCH1

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C537485
External references:
2 OMIM references -
1 MeSH reference: C548069

Pontocerebellar hypoplasia type 1

Very frequent
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Hypertonia / spasticity / rigidity / stiffness
- Microcephaly
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Stillbirth / neonatal death

Frequent
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers



Autosomal dominant spastic paraplegia type 13

(no data available)