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Usher syndrome type 3A(USH3; USH3A)

MedGen UID:
1830415
Concept ID:
C5779850
Disease or Syndrome
Synonym: USHER SYNDROME, TYPE IIIA
 
Gene (location): CLRN1 (3q25.1)
 
Monarch Initiative: MONDO:0010170
OMIM®: 276902

Definition

Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene. [from MONDO]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Visual field defect
MedGen UID:
854603
Concept ID:
C3887875
Finding
An absolute or relative reduction in the extent of the normal field of vision.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Malm E, Ponjavic V, Möller C, Kimberling WJ, Andréasson S
Ophthalmic Genet 2011 Jun;32(2):65-74. Epub 2010 Dec 21 doi: 10.3109/13816810.2010.536064. PMID: 21174530

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