MCID: USH026
MIFTS: 23

Usher Syndrome Type 3b malady

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

Aliases & Classifications for Usher Syndrome Type 3b

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Aliases & Descriptions for Usher Syndrome Type 3b:

Name: Usher Syndrome Type 3b 50 23 12
Usher Syndrome 3b 68 25
 
Ush3b 68

Characteristics:

HPO:

62
usher syndrome type 3b:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614504
MeSH37 D052245

Summaries for Usher Syndrome Type 3b

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UniProtKB/Swiss-Prot:68 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 charcot-marie-tooth disease, axonal, type 2w and perrault syndrome 2, and has symptoms including photophobia, hearing impairment and visual impairment. An important gene associated with Usher Syndrome Type 3b is HARS (Histidyl-TRNA Synthetase).

OMIM:50 Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and... (614504) more...

Related Diseases for Usher Syndrome Type 3b

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Symptoms for Usher Syndrome Type 3b

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Symptoms by clinical synopsis from OMIM:

614504

Clinical features from OMIM:

614504

HPO human phenotypes related to Usher Syndrome Type 3b:

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

UMLS symptoms related to Usher Syndrome Type 3b:


photophobia

Drugs & Therapeutics for Usher Syndrome Type 3b

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Interventional clinical trials:

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

Genetic Tests for Usher Syndrome Type 3b

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Genetic tests related to Usher Syndrome Type 3b:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 3b25
2 Usher Syndrome Type 3b23 HARS

Anatomical Context for Usher Syndrome Type 3b

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Animal Models for Usher Syndrome Type 3b or affiliated genes

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Publications for Usher Syndrome Type 3b

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Variations for Usher Syndrome Type 3b

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

68
id Symbol AA change Variation ID SNP ID
1HARSp.Tyr454SerVAR_067918rs387906639

Clinvar genetic disease variations for Usher Syndrome Type 3b:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HARSNM_002109.5(HARS): c.1361A> C (p.Tyr454Ser)single nucleotide variantPathogenicrs387906639GRCh37Chr 5, 140054361: 140054361

Expression for genes affiliated with Usher Syndrome Type 3b

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

Pathways for genes affiliated with Usher Syndrome Type 3b

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GO Terms for genes affiliated with Usher Syndrome Type 3b

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Sources for Usher Syndrome Type 3b

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet