USH3B
MCID: USH026
MIFTS: 22

Usher Syndrome Type 3b (USH3B) malady

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

Aliases & Classifications for Usher Syndrome Type 3b

Aliases & Descriptions for Usher Syndrome Type 3b:

Name: Usher Syndrome Type 3b 54 12 24 13
Usher Syndrome 3b 66 29
Ush3b 12 66
Usher Syndrome, Type Iiib 69
Usher Syndrome Type Iiib 12

Characteristics:

HPO:

32
usher syndrome type 3b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614504
Disease Ontology 12 DOID:0110842
ICD10 33 H35.5
MeSH 42 D052245

Summaries for Usher Syndrome Type 3b

UniProtKB/Swiss-Prot : 66 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 usher syndrome 3b, is related to usher syndrome, type 3a, and has symptoms including photophobia, hearing impairment and visual impairment. An important gene associated with Usher Syndrome Type 3b is HARS (Histidyl-TRNA Synthetase).

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... (614504) more...

Related Diseases for Usher Syndrome Type 3b

Symptoms & Phenotypes for Usher Syndrome Type 3b

Symptoms by clinical synopsis from OMIM:

614504

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 photophobia 32 HP:0000613
2 hearing impairment 32 HP:0000365
3 visual impairment 32 HP:0000505
4 delayed gross motor development 32 HP:0002194
5 optic disc pallor 32 HP:0000543
6 horizontal nystagmus 32 HP:0000666
7 truncal ataxia 32 HP:0002078

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

Publications for Usher Syndrome Type 3b

Variations for Usher Syndrome Type 3b

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

66
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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