Orphanet: Usher syndrome type 1

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Usher syndrome type 1

Disease definition

A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.

ORPHA:231169

Classification level: Subtype of disorder

Synonym(s):
- USH1
Prevalence: 1-9 / 100 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: H35.5
ICD-11: LD2H.4
OMIM: 276900 276904 601067 602083 602097 606943 612632 614869 614990 618632
UMLS: C1568247
MeSH: -
GARD: 5435
MedDRA: -

Detailed information

General public

Article for general public
Français (2012, pdf) - Orphanet
Español (2016) - GuíaSalud
Svenska (2021) - Socialstyrelsen

Guidelines

Clinical practice guidelines
Español (2017, pdf) - Ministerio de Sanidad

Disease review articles

Clinical genetics review
English (2020) - GeneReviews

Disability

Disability factsheet
Français (2015, pdf) - Orphanet
Español (2017, pdf) - Orphanet

Genetic Testing

Guidance for genetic testing
English (2011) - Eur J Hum Genet
Français (2015, pdf) - ANPGM

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Usher syndrome type 1

ORPHA:231169

A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

General public

Guidelines

Disease review articles

Disability

Genetic Testing

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services