MCID: USH044
MIFTS: 26

Usher Syndrome, Type Iiib

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

Aliases & Classifications for Usher Syndrome, Type Iiib

MalaCards integrated aliases for Usher Syndrome, Type Iiib:

Name: Usher Syndrome, Type Iiib 57 73
Usher Syndrome Type 3b 57 12 13 15
Usher Syndrome, Type 3b 29 6 40
Ush3b 57 12 75
Usher Syndrome Type Iiib 12
Usher Syndrome 3b 75

Characteristics:

OMIM:

57
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 iiib:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Usher Syndrome, Type Iiib

UniProtKB/Swiss-Prot : 75 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 Iiib, also known as usher syndrome type 3b, is related to retinitis pigmentosa-deafness syndrome and usher syndrome, and has symptoms including photophobia An important gene associated with Usher Syndrome, Type Iiib is HARS (Histidyl-TRNA Synthetase). Affiliated tissues include eye and retina, and related phenotypes are hearing impairment and visual impairment

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

OMIM : 57 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 Iiib

Symptoms & Phenotypes for Usher Syndrome, Type Iiib

Symptoms via clinical synopsis from OMIM:

57
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 Iiib:

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

UMLS symptoms related to Usher Syndrome, Type Iiib:


photophobia

Drugs & Therapeutics for Usher Syndrome, Type Iiib

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type Iiib

Genetic Tests for Usher Syndrome, Type Iiib

Genetic tests related to Usher Syndrome, Type Iiib:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 3b 29 HARS

Anatomical Context for Usher Syndrome, Type Iiib

MalaCards organs/tissues related to Usher Syndrome, Type Iiib:

41
Eye, Retina

Publications for Usher Syndrome, Type Iiib

Articles related to Usher Syndrome, Type Iiib:

# Title Authors Year
1
The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity. ( 28632987 )
2017

Variations for Usher Syndrome, Type Iiib

UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type Iiib:

75
# Symbol AA change Variation ID SNP ID
1 HARS p.Tyr454Ser VAR_067918 rs387906639

ClinVar genetic disease variations for Usher Syndrome, Type Iiib:

6
(show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 HARS NM_002109.5(HARS): c.694C> T (p.Arg232Cys) single nucleotide variant Uncertain significance rs186526524 GRCh37 Chromosome 5, 140057275: 140057275
2 HARS NM_002109.5(HARS): c.694C> T (p.Arg232Cys) single nucleotide variant Uncertain significance rs186526524 GRCh38 Chromosome 5, 140677690: 140677690
3 HARS NM_002109.5(HARS): c.1458+7G> A single nucleotide variant Benign/Likely benign rs58302597 GRCh38 Chromosome 5, 140674672: 140674672
4 HARS NM_002109.5(HARS): c.1458+7G> A single nucleotide variant Benign/Likely benign rs58302597 GRCh37 Chromosome 5, 140054257: 140054257
5 HARS NM_002109.5(HARS): c.1312-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs772505507 GRCh38 Chromosome 5, 140674833: 140674833
6 HARS NM_002109.5(HARS): c.1312-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs772505507 GRCh37 Chromosome 5, 140054418: 140054418
7 HARS NM_002109.5(HARS): c.614G> A (p.Gly205Asp) single nucleotide variant Benign rs147288996 GRCh38 Chromosome 5, 140677924: 140677924
8 HARS NM_002109.5(HARS): c.614G> A (p.Gly205Asp) single nucleotide variant Benign rs147288996 GRCh37 Chromosome 5, 140057509: 140057509
9 HARS NM_002109.5(HARS): c.382C> T (p.Arg128Cys) single nucleotide variant Uncertain significance rs138582560 GRCh38 Chromosome 5, 140679802: 140679802
10 HARS NM_002109.5(HARS): c.382C> T (p.Arg128Cys) single nucleotide variant Uncertain significance rs138582560 GRCh37 Chromosome 5, 140059387: 140059387
11 HARS NM_002109.5(HARS): c.103G> A (p.Val35Met) single nucleotide variant Uncertain significance rs144588417 GRCh38 Chromosome 5, 140690932: 140690932
12 HARS NM_002109.5(HARS): c.103G> A (p.Val35Met) single nucleotide variant Uncertain significance rs144588417 GRCh37 Chromosome 5, 140070517: 140070517
13 HARS NM_002109.5(HARS): c.1067G> A (p.Ser356Asn) single nucleotide variant Uncertain significance rs144322728 GRCh38 Chromosome 5, 140676781: 140676781
14 HARS NM_002109.5(HARS): c.1067G> A (p.Ser356Asn) single nucleotide variant Uncertain significance rs144322728 GRCh37 Chromosome 5, 140056366: 140056366
15 HARS NM_002109.5(HARS): c.1445C> T (p.Thr482Met) single nucleotide variant Benign rs147372931 GRCh37 Chromosome 5, 140054277: 140054277
16 HARS NM_002109.5(HARS): c.1445C> T (p.Thr482Met) single nucleotide variant Benign rs147372931 GRCh38 Chromosome 5, 140674692: 140674692
17 HARS NM_002109.5(HARS): c.1127A> G (p.Lys376Arg) single nucleotide variant Benign rs139447495 GRCh37 Chromosome 5, 140056306: 140056306
18 HARS NM_002109.5(HARS): c.1127A> G (p.Lys376Arg) single nucleotide variant Benign rs139447495 GRCh38 Chromosome 5, 140676721: 140676721
19 HARS NM_002109.5(HARS): c.1123C> T (p.Arg375Cys) single nucleotide variant Uncertain significance rs774682373 GRCh37 Chromosome 5, 140056310: 140056310
20 HARS NM_002109.5(HARS): c.1123C> T (p.Arg375Cys) single nucleotide variant Uncertain significance rs774682373 GRCh38 Chromosome 5, 140676725: 140676725
21 HARS NM_002109.5(HARS): c.729+3A> G single nucleotide variant Uncertain significance rs938453967 GRCh38 Chromosome 5, 140677652: 140677652
22 HARS NM_002109.5(HARS): c.729+3A> G single nucleotide variant Uncertain significance rs938453967 GRCh37 Chromosome 5, 140057237: 140057237
23 HARS NM_002109.5(HARS): c.14C> A (p.Ala5Glu) single nucleotide variant Benign/Likely benign rs78741041 GRCh38 Chromosome 5, 140691291: 140691291
24 HARS NM_002109.5(HARS): c.14C> A (p.Ala5Glu) single nucleotide variant Benign/Likely benign rs78741041 GRCh37 Chromosome 5, 140070876: 140070876
25 HARS NM_002109.5(HARS): c.1221G> A (p.Thr407=) single nucleotide variant Likely benign rs150274370 GRCh38 Chromosome 5, 140675107: 140675107
26 HARS NM_002109.5(HARS): c.1221G> A (p.Thr407=) single nucleotide variant Likely benign rs150274370 GRCh37 Chromosome 5, 140054692: 140054692
27 HARS NM_002109.5(HARS): c.1196C> T (p.Ala399Val) single nucleotide variant Benign rs34732372 GRCh38 Chromosome 5, 140675132: 140675132
28 HARS NM_002109.5(HARS): c.1196C> T (p.Ala399Val) single nucleotide variant Benign rs34732372 GRCh37 Chromosome 5, 140054717: 140054717
29 HARS NM_002109.5(HARS): c.465A> G (p.Val155=) single nucleotide variant Likely benign GRCh37 Chromosome 5, 140058644: 140058644
30 HARS NM_002109.5(HARS): c.465A> G (p.Val155=) single nucleotide variant Likely benign GRCh38 Chromosome 5, 140679059: 140679059
31 HARS NM_002109.5(HARS): c.52G> A (p.Val18Met) single nucleotide variant Uncertain significance rs774632798 GRCh38 Chromosome 5, 140691253: 140691253
32 HARS NM_002109.5(HARS): c.52G> A (p.Val18Met) single nucleotide variant Uncertain significance rs774632798 GRCh37 Chromosome 5, 140070838: 140070838
33 HARS NM_002109.5(HARS): c.234C> T (p.Asp78=) single nucleotide variant Benign/Likely benign rs142994969 GRCh37 Chromosome 5, 140062751: 140062751
34 HARS NM_002109.5(HARS): c.234C> T (p.Asp78=) single nucleotide variant Benign/Likely benign rs142994969 GRCh38 Chromosome 5, 140683166: 140683166
35 HARS NM_002109.5(HARS): c.1461G> A (p.Val487=) single nucleotide variant Uncertain significance rs931036155 GRCh38 Chromosome 5, 140674326: 140674326
36 HARS NM_002109.5(HARS): c.1461G> A (p.Val487=) single nucleotide variant Uncertain significance rs931036155 GRCh37 Chromosome 5, 140053911: 140053911
37 HARS NM_002109.5(HARS): c.1433T> G (p.Leu478Arg) single nucleotide variant Uncertain significance rs1024985302 GRCh37 Chromosome 5, 140054289: 140054289
38 HARS NM_002109.5(HARS): c.1433T> G (p.Leu478Arg) single nucleotide variant Uncertain significance rs1024985302 GRCh38 Chromosome 5, 140674704: 140674704
39 HARS NM_002109.5(HARS): c.1261C> G (p.Leu421Val) single nucleotide variant Benign rs34790864 GRCh37 Chromosome 5, 140054652: 140054652
40 HARS NM_002109.5(HARS): c.1261C> G (p.Leu421Val) single nucleotide variant Benign rs34790864 GRCh38 Chromosome 5, 140675067: 140675067
41 HARS NM_002109.5(HARS): c.1217C> A (p.Thr406Asn) single nucleotide variant Uncertain significance rs369070016 GRCh37 Chromosome 5, 140054696: 140054696
42 HARS NM_002109.5(HARS): c.1217C> A (p.Thr406Asn) single nucleotide variant Uncertain significance rs369070016 GRCh38 Chromosome 5, 140675111: 140675111
43 HARS NM_002109.5(HARS): c.220G> A (p.Glu74Lys) single nucleotide variant Uncertain significance rs774017621 GRCh37 Chromosome 5, 140062765: 140062765
44 HARS NM_002109.5(HARS): c.220G> A (p.Glu74Lys) single nucleotide variant Uncertain significance rs774017621 GRCh38 Chromosome 5, 140683180: 140683180
45 HARS NM_002109.5(HARS): c.1402G> A (p.Glu468Lys) single nucleotide variant Uncertain significance rs199615869 GRCh37 Chromosome 5, 140054320: 140054320
46 HARS NM_002109.5(HARS): c.1402G> A (p.Glu468Lys) single nucleotide variant Uncertain significance rs199615869 GRCh38 Chromosome 5, 140674735: 140674735
47 HARS NM_002109.5(HARS): c.457G> T (p.Ala153Ser) single nucleotide variant Uncertain significance rs746887565 GRCh38 Chromosome 5, 140679067: 140679067
48 HARS NM_002109.5(HARS): c.457G> T (p.Ala153Ser) single nucleotide variant Uncertain significance rs746887565 GRCh37 Chromosome 5, 140058652: 140058652
49 HARS NM_002109.5(HARS): c.72G> A (p.Gln24=) single nucleotide variant Likely benign rs148516171 GRCh38 Chromosome 5, 140691233: 140691233
50 HARS NM_002109.5(HARS): c.72G> A (p.Gln24=) single nucleotide variant Likely benign rs148516171 GRCh37 Chromosome 5, 140070818: 140070818

Expression for Usher Syndrome, Type Iiib

Search GEO for disease gene expression data for Usher Syndrome, Type Iiib.

Pathways for Usher Syndrome, Type Iiib

GO Terms for Usher Syndrome, Type Iiib

Sources for Usher Syndrome, Type Iiib

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