Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Fatal familial insomnia
Hydrocephalus with stenosis of aqueduct of Sylvius

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
Hydrocephalus with stenosis of aqueduct of Sylvius
L1CAM



Fatal familial insomnia
Hydrocephalus with stenosis of aqueduct of Sylvius

Synonym(s):
(no synonyms)

Synonym(s):
- Bickers-Adams syndrome
- HSAS
- X-linked HSAS
- X-linked acqueductal stenosis
- X-linked hydrocephalus with stenosis of aqueduct of Sylvius

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: 1-9 / 100 000
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

Hydrocephalus with stenosis of aqueduct of Sylvius

Very frequent
- Cranial hypertension
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hydrocephaly
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Stenosis of aqueduc of Sylvius
- X-linked recessive inheritance

Frequent
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large

Occasional
- Autosomal recessive inheritance
- Coarse face
- Corpus callosum / septum pellucidum total / partial agenesis
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Nystagmus
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint


Fatal familial insomnia

(no data available)