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Usher syndrome type 1
9 OMIM references -
9 associated genes
25 connected diseases
18 signs/symptoms
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Carney complex
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
Catecholaminergic polymorphic ventricular tachycardia
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Familial gastric cancer
Gastric linitis plastica
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Giant cell glioblastoma
Gliosarcoma
Usher syndrome type 2
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
X-linked distal arthrogryposis multiplex congenita
Synonym(s):
- USH1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
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:
9 OMIM references -
No MeSH references
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