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 52 24 12
Usher Syndrome 3b 70 27
 
Usher Syndrome, Type Iiib 68
Ush3b 70

Characteristics:

HPO:

64
usher syndrome type 3b:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614504
MeSH39 D052245

Summaries for Usher Syndrome Type 3b

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hearing impairment64 HP:0000365
2 visual impairment64 HP:0000505
3 optic disc pallor64 HP:0000543
4 photophobia64 HP:0000613
5 horizontal nystagmus64 HP:0000666
6 truncal ataxia64 HP:0002078
7 delayed gross motor development64 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 3b27
2 Usher Syndrome Type 3b24 HARS

Anatomical Context for Usher Syndrome Type 3b

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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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet