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Autosomal dominant Alport syndrome

1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Usher syndrome type 2

3 OMIM references -
4 associated genes
21 signs/symptoms

Autosomal dominant Alport syndrome

Usher syndrome type 2

COL4A3	(UniProt - OMIM)		DFNB31	(UniProt - OMIM)
COL4A4	(UniProt - OMIM)		GPR98	(UniProt - OMIM)
			PDZD7	(UniProt - OMIM)
			USH2A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL4A3	(0.52)	USH2A

Citations in the biomedical literature:

Autosomal dominant Alport syndrome		Usher syndrome type 2
	Synonym(s): (no synonyms)		Synonym(s): - USH2

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: Class of prevalence: - Average age onset: childhood 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: 1 OMIM reference - 1 MeSH reference: C536586		External references: 3 OMIM references - No MeSH references

Usher syndrome type 2
	Very frequent - Abnormal ERG / electroretinogram / electroretinography - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Autosomal recessive inheritance - 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 - Myopia Occasional - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Complete / partial microdontia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Delirium / hallucination - Dental staining anomaly / spotted teeth / erythrodontia - Enamel anomaly - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Multiple caries - Nystagmus - Psychosis / schizophrenia / maniac disorder
Autosomal dominant Alport syndrome
(no data available)