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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Fatal familial insomnia
X-linked complicated corpus callosum dysgenesis

PRNP L1CAM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PRNP
(0.59)
L1CAM



Citations in the biomedical literature:


Fatal familial insomnia
PRNP
X-linked complicated corpus callosum dysgenesis
L1CAM



Fatal familial insomnia
X-linked complicated corpus callosum dysgenesis

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

Classification (ICD10):
- Certain infectious and parasitic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
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: -
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
1 MeSH reference: D034062
External references:
1 OMIM reference -
No MeSH references

X-linked complicated corpus callosum dysgenesis

Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus
- X-linked recessive inheritance

Frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hypertonia / spasticity / rigidity / stiffness
- Microcephaly
- Muscle weakness / flaccidity

Occasional
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease


Fatal familial insomnia

(no data available)