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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Fatal familial insomnia
MASA syndrome

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
MASA syndrome
L1CAM



Fatal familial insomnia
MASA syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Intellectual defici-aphasia-shuffling gait-adducted thumbs syndrome

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):
- Diseases of the nervous system -

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: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
1 MeSH reference: D034062
External references:
1 OMIM reference -
1 MeSH reference: C536029

MASA syndrome

Very frequent
- Abnormal gait
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypereflexia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- X-linked recessive inheritance

Frequent
- Camptodactyly of fingers
- Clinodactyly of fifth finger

Occasional
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly


Fatal familial insomnia

(no data available)