Cytoscape Web
Click node...


4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
9 OMIM references -
9 associated genes
18 signs/symptoms
Severe congenital nemaline myopathy
Usher syndrome type 1

ACTA1 CDH23
KLHL40 CIB2
KLHL41 MYO7A
NEB PCDH15
USH1C
USH1E
()
USH1G
USH1H
()
USH1K
()


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.52)
MYO7A



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Usher syndrome type 1
CDH23 CIB2 MYO7A PCDH15 USH1C USH1E
USH1G USH1H USH1K



Severe congenital nemaline myopathy
Usher syndrome type 1

Synonym(s):
(no synonyms)

Synonym(s):
- USH1

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
9 OMIM references -
No MeSH references

Usher syndrome type 1

Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Night blindness / hemeralopia
- Retinitis pigmentosa / retinal pigmentary changes
- Sensorineural deafness / hearing loss
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Visual loss / blindness / amblyopia

Frequent
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hypermetropia
- Psychosis / schizophrenia / maniac disorder

Occasional
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delirium / hallucination
- Enamel anomaly
- Humour troubles / anxiety / depression / apathy / euphoria / irritability


Severe congenital nemaline myopathy

(no data available)