USHER SYNDROME, TYPE IIIB

General Information (adopted from Orphanet):

Synonyms, Signs: USH3B
Number of Symptoms 23
OrphanetNr:
OMIM Id: 614504
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000666) Horizontal nystagmus 32 / 7739
2
(HPO:0000505) Visual impairment 297 / 7739
3
(HPO:0000613) Photophobia 158 / 7739
4
(HPO:0000543) Optic disc pallor 67 / 7739
5
(HPO:0000365) Hearing impairment 539 / 7739
6
(HPO:0002194) Delayed gross motor development 37 / 7739
7
(HPO:0001288) Gait disturbance 318 / 7739
8
(HPO:0002136) Broad-based gait 30 / 7739
9
(HPO:0002078) Truncal ataxia 41 / 7739
10
(OMIM) Hallucinations, visual, precipitated by infectious illness (in some patients) 1 / 7739
11
(OMIM) Bull's eye maculae 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Nonsensical speech accompanying visual hallucinations (in some patients) 1 / 7739
14
(OMIM) Repetitive eye blinking accompanying visual hallucinations (in some patients) 1 / 7739
15
(OMIM) Psychomotor agitation accompanying visual hallucinations (in some patients) 1 / 7739
16
(OMIM) Patellar tendon reflexes hyperactive 1 / 7739
17
(OMIM) Attenuation of retinal vessels 5 / 7739
18
(OMIM) Visual impairment, progressive, starting early childhood 1 / 7739
19
(OMIM) Inappropriate laughter accompanying visual hallucinations (in some patients) 1 / 7739
20
(OMIM) Truncal ataxia, mild 1 / 7739
21
(OMIM) Fine horizontal nystagmus 1 / 7739
22
(OMIM) Diffuse pigmentary stippling of peripheral retina 1 / 7739
23
(OMIM) Hearing loss, progressive, starting in infancy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Puffenberger et al. (2012) studied Usher syndrome patients from Old Order Amish families in Pennsylvania. Growth and development were normal during infancy. Visual impairment became evident during early childhood with the emergence of fine horizontal nystagmus, light aversion, ...
Molecular genetics OMIM In 2 patients from Old Order Amish families in Pennsylvania with Usher syndrome type III mapping to chromosome 5q, Puffenberger et al. (2012) identified homozygosity for a missense mutation in the HARS gene (Y454S; 142810.0001); the mutation was ...