MCID: USH026
MIFTS: 26

Usher Syndrome Type 3b

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Usher Syndrome Type 3b

MalaCards integrated aliases for Usher Syndrome Type 3b:

Name: Usher Syndrome Type 3b 54 12 24 13
Ush3b 12 71
Usher Syndrome, Type Iiib 69
Usher Syndrome Type Iiib 12
Usher Syndrome, Type 3b 29
Usher Syndrome 3b 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable


HPO:

32
usher syndrome type 3b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Usher Syndrome Type 3b

UniProtKB/Swiss-Prot : 71 Usher syndrome 3B: A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life.

MalaCards based summary : Usher Syndrome Type 3b, also known as ush3b, is related to usher syndrome, and has symptoms including visual impairment, horizontal nystagmus and photophobia. An important gene associated with Usher Syndrome Type 3b is HARS (Histidyl-TRNA Synthetase). Affiliated tissues include eye and retina.

Disease Ontology : 12 An Usher syndrome type 3 that has material basis in homozygous mutation in the HARS gene on chromosome 5q31.

OMIM : 54
Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995). For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (276902). (614504)

Related Diseases for Usher Syndrome Type 3b

Symptoms & Phenotypes for Usher Syndrome Type 3b

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
photophobia
optic disc pallor
attenuation of retinal vessels
visual impairment, progressive, starting early childhood
fine horizontal nystagmus
more
Head And Neck- Ears:
hearing loss, progressive, starting in infancy

Neurologic- Central Nervous System:
delayed gross motor development
patellar tendon reflexes hyperactive
truncal ataxia, mild
gait wide-based

Neurologic- Behavioral Psychiatric Manifestations:
hallucinations, visual, precipitated by infectious illness (in some patients)
nonsensical speech accompanying visual hallucinations (in some patients)
inappropriate laughter accompanying visual hallucinations (in some patients)
psychomotor agitation accompanying visual hallucinations (in some patients)


Clinical features from OMIM:

614504

Human phenotypes related to Usher Syndrome Type 3b:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 horizontal nystagmus 32 HP:0000666
3 photophobia 32 HP:0000613
4 optic disc pallor 32 HP:0000543
5 truncal ataxia 32 HP:0002078
6 delayed gross motor development 32 HP:0002194
7 hearing impairment 32 HP:0000365

UMLS symptoms related to Usher Syndrome Type 3b:


photophobia

Drugs & Therapeutics for Usher Syndrome Type 3b

Search Clinical Trials , NIH Clinical Center for Usher Syndrome Type 3b

Genetic Tests for Usher Syndrome Type 3b

Genetic tests related to Usher Syndrome Type 3b:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 3b 29
2 Usher Syndrome Type 3b 24 HARS

Anatomical Context for Usher Syndrome Type 3b

MalaCards organs/tissues related to Usher Syndrome Type 3b:

39
Eye, Retina

Publications for Usher Syndrome Type 3b

Variations for Usher Syndrome Type 3b

UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome Type 3b:

71
id Symbol AA change Variation ID SNP ID
1 HARS p.Tyr454Ser VAR_067918 rs387906639

ClinVar genetic disease variations for Usher Syndrome Type 3b:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HARS NM_002109.5(HARS): c.1361A> C (p.Tyr454Ser) single nucleotide variant Pathogenic rs387906639 GRCh37 Chromosome 5, 140054361: 140054361

Expression for Usher Syndrome Type 3b

Search GEO for disease gene expression data for Usher Syndrome Type 3b.

Pathways for Usher Syndrome Type 3b

GO Terms for Usher Syndrome Type 3b

Sources for Usher Syndrome Type 3b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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