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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 4
9 OMIM references -
9 associated genes
18 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Usher syndrome type 1

CACNG2 CDH23
CDH15 CIB2
CTNNB1 MYO7A
DOCK8 PCDH15
DYNC1H1 USH1C
DYRK1A USH1E
()
EPB41L1 USH1G
GRIN1 USH1H
()
GRIN2B USH1K
()
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
DYRK1A
DYRK1A
DYRK1A
(0.72)
(0.52)
(0.52)
(0.52)
MYO7A
USH1E
USH1H
USH1K



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Usher syndrome type 1
CDH23 CIB2 MYO7A PCDH15 USH1C USH1E
USH1G USH1H USH1K



Autosomal dominant nonsyndromic intellectual deficit
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):
(no data available)
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: -
Average age onset: -
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: autosomal recessive

External references:
13 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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)