MCID: USH026
MIFTS: 20

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 51 24 12
Usher Syndrome 3b 69 26
 
Usher Syndrome, Type Iiib 67
Ush3b 69

Characteristics:

HPO:

63
usher syndrome type 3b:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 614504
MeSH38 D052245

Summaries for Usher Syndrome Type 3b

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UniProtKB/Swiss-Prot:69 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, is also known as usher syndrome 3b, and has symptoms including hearing impairment, visual impairment and optic disc pallor. An important gene associated with Usher Syndrome Type 3b is HARS (Histidyl-TRNA Synthetase).

OMIM:51 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

Human phenotypes related to Usher Syndrome Type 3b:

 63 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hearing impairment63 HP:0000365
2 visual impairment63 HP:0000505
3 optic disc pallor63 HP:0000543
4 photophobia63 HP:0000613
5 horizontal nystagmus63 HP:0000666
6 truncal ataxia63 HP:0002078
7 delayed gross motor development63 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 3b26
2 Usher Syndrome Type 3b24 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:

69
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)SNVPathogenicrs387906639GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet