MCID: USH042
MIFTS: 36

Usher Syndrome, Type Ig

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

Aliases & Classifications for Usher Syndrome, Type Ig

MalaCards integrated aliases for Usher Syndrome, Type Ig:

Name: Usher Syndrome, Type Ig 57 73
Usher Syndrome, Type 1g 57 29 13 6 40
Ush1g 57 12 75
Usher Syndrome Type 1g 12 15
Usher Syndrome Type Ig 12 75
Usher's Syndrome Type 1g 75
Usher Syndrome 1g 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
usher syndrome, type ig:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 606943
Disease Ontology 12 DOID:0110834
ICD10 33 H35.5
MedGen 42 C1847089
MeSH 44 D052245
SNOMED-CT via HPO 69 258211005 60700002 28835009
UMLS 73 C1847089

Summaries for Usher Syndrome, Type Ig

UniProtKB/Swiss-Prot : 75 Usher syndrome 1G: 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

MalaCards based summary : Usher Syndrome, Type Ig, also known as usher syndrome, type 1g, is related to usher syndrome and usher syndrome, type i. An important gene associated with Usher Syndrome, Type Ig is USH1G (USH1 Protein Network Component Sans). Affiliated tissues include bone, and related phenotypes are sensorineural hearing impairment and rod-cone dystrophy

Disease Ontology : 12 An Usher syndrome type 1 that has material basis in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25.

OMIM : 57 Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. The syndrome is both clinically and genetically heterogeneous. Of the 3 different clinical types that have been described, USH1 (276900), consisting of the association of profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa, is the most severe. (606943)

Related Diseases for Usher Syndrome, Type Ig

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome Type 2
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome, Type Ig via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 30.1 CDH23 MYO7A PCDH15 USH1G
2 usher syndrome, type i 29.8 CDH23 MYO7A PCDH15 USH1G
3 usher syndrome, type iiia 29.2 CDH23 MYO7A PCDH15 USH1G
4 usher syndrome type 2 29.2 CDH23 MYO7A PCDH15 USH1G
5 usher syndrome, type if 29.1 CDH23 MYO7A PCDH15 USH1G
6 usher syndrome, type id 29.1 CDH23 MYO7A PCDH15 USH1G
7 usher syndrome, type iid 29.1 CDH23 MYO7A PCDH15 USH1G
8 usher syndrome, type iic 29.0 CDH23 MYO7A PCDH15 USH1G
9 retinitis pigmentosa 29.0 CDH23 MYO7A PCDH15 USH1G
10 retinitis pigmentosa-deafness syndrome 28.8 CDH23 MYO7A PCDH15
11 nonsyndromic deafness 28.7 CDH23 MYO7A PCDH15 USH1G
12 right atrial isomerism 11.0
13 deafness, autosomal dominant 20 11.0
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
15 type i 10.0
16 dfnb1 9.9 MYO7A PCDH15
17 retinitis 9.9
18 usher syndrome, type ic 9.6 CDH23 MYO7A
19 deafness, autosomal recessive 85 9.6 CDH23 MYO7A
20 deafness, autosomal recessive 83 9.6 CDH23 MYO7A
21 autosomal recessive nonsyndromic deafness 3 9.5 CDH23 MYO7A
22 deafness, autosomal dominant 6 9.4 CDH23 MYO7A
23 inner ear disease 9.3 CDH23 MYO7A
24 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.2 CDH23 MYO7A
25 retinal disease 9.2 MYO7A PCDH15
26 deafness, autosomal recessive 23 9.0 CDH23 MYO7A PCDH15
27 deafness, autosomal recessive 12 9.0 CDH23 MYO7A PCDH15
28 auditory system disease 9.0 CDH23 MYO7A PCDH15
29 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.9 CDH23 MYO7A PCDH15
30 sensorineural hearing loss 8.9 CDH23 MYO7A PCDH15
31 bardet-biedl syndrome 8.8 CDH23 MYO7A PCDH15

Graphical network of the top 20 diseases related to Usher Syndrome, Type Ig:



Diseases related to Usher Syndrome, Type Ig

Symptoms & Phenotypes for Usher Syndrome, Type Ig

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, profound congenital
vestibular dysfunction

Head And Neck Eyes:
retinitis pigmentosa


Clinical features from OMIM:

606943

Human phenotypes related to Usher Syndrome, Type Ig:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 rod-cone dystrophy 32 HP:0000510
3 vestibular dysfunction 32 HP:0001751
4 hypoplasia of the nasal bone 32 HP:0004646

MGI Mouse Phenotypes related to Usher Syndrome, Type Ig:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.62 CDH23 MYO7A PCDH15 USH1G
2 cellular MP:0005384 9.56 CDH23 MYO7A PCDH15 USH1G
3 hearing/vestibular/ear MP:0005377 9.46 MYO7A PCDH15 USH1G CDH23
4 nervous system MP:0003631 9.26 CDH23 MYO7A PCDH15 USH1G
5 vision/eye MP:0005391 8.92 CDH23 MYO7A PCDH15 USH1G

Drugs & Therapeutics for Usher Syndrome, Type Ig

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

Genetic Tests for Usher Syndrome, Type Ig

Genetic tests related to Usher Syndrome, Type Ig:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 1g 29 USH1G

Anatomical Context for Usher Syndrome, Type Ig

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

41
Bone

Publications for Usher Syndrome, Type Ig

Articles related to Usher Syndrome, Type Ig:

# Title Authors Year
1
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. ( 28835534 )
2017
2
Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans. ( 19270738 )
2009

Variations for Usher Syndrome, Type Ig

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

75
# Symbol AA change Variation ID SNP ID
1 USH1G p.Leu48Pro VAR_023739 rs104894651
2 USH1G p.Asp458Val VAR_060468 rs397517925

ClinVar genetic disease variations for Usher Syndrome, Type Ig:

6
(show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH1G NM_173477.4(USH1G): c.143T> C (p.Leu48Pro) single nucleotide variant Pathogenic rs104894651 GRCh37 Chromosome 17, 72919026: 72919026
2 USH1G NM_173477.4(USH1G): c.143T> C (p.Leu48Pro) single nucleotide variant Pathogenic rs104894651 GRCh38 Chromosome 17, 74922931: 74922931
3 USH1G NM_173477.4(USH1G): c.186_187delCA (p.Ile63Leufs) deletion Pathogenic rs730880268 GRCh37 Chromosome 17, 72916744: 72916745
4 USH1G NM_173477.4(USH1G): c.186_187delCA (p.Ile63Leufs) deletion Pathogenic rs730880268 GRCh38 Chromosome 17, 74920649: 74920650
5 USH1G NM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs) deletion Pathogenic rs397515345 GRCh37 Chromosome 17, 72916080: 72916099
6 USH1G NM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs) deletion Pathogenic rs397515345 GRCh38 Chromosome 17, 74919985: 74920004
7 USH1G NM_173477.4(USH1G): c.394dupG (p.Val132Glyfs) duplication Pathogenic rs587776546 GRCh37 Chromosome 17, 72916537: 72916537
8 USH1G NM_173477.4(USH1G): c.394dupG (p.Val132Glyfs) duplication Pathogenic rs587776546 GRCh38 Chromosome 17, 74920442: 74920442
9 USH1G NM_173477.4(USH1G): c.113G> A (p.Trp38Ter) single nucleotide variant Pathogenic rs104894652 GRCh37 Chromosome 17, 72919056: 72919056
10 USH1G NM_173477.4(USH1G): c.113G> A (p.Trp38Ter) single nucleotide variant Pathogenic rs104894652 GRCh38 Chromosome 17, 74922961: 74922961
11 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
12 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh38 Chromosome 10, 54317414: 54317414
13 USH1G USH1G, 15-BP DEL, NT163 deletion Pathogenic
14 USH1G NM_173477.4(USH1G): c.1373A> T (p.Asp458Val) single nucleotide variant Likely pathogenic rs397517925 GRCh38 Chromosome 17, 74919463: 74919463
15 USH1G NM_173477.4(USH1G): c.1373A> T (p.Asp458Val) single nucleotide variant Likely pathogenic rs397517925 GRCh37 Chromosome 17, 72915558: 72915558
16 PCDH15 NM_033056.3(PCDH15): c.394dupG (p.Glu132Glyfs) duplication Pathogenic rs397515566 GRCh37 Chromosome 10, 56128960: 56128960
17 PCDH15 NM_033056.3(PCDH15): c.394dupG (p.Glu132Glyfs) duplication Pathogenic rs397515566 GRCh38 Chromosome 10, 54369200: 54369200
18 USH1G NM_173477.4(USH1G): c.1311delG (p.Lys438Argfs) deletion Likely pathogenic rs886043626 GRCh37 Chromosome 17, 72915620: 72915620
19 USH1G NM_173477.4(USH1G): c.1311delG (p.Lys438Argfs) deletion Likely pathogenic rs886043626 GRCh38 Chromosome 17, 74919525: 74919525

Expression for Usher Syndrome, Type Ig

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

Pathways for Usher Syndrome, Type Ig

GO Terms for Usher Syndrome, Type Ig

Cellular components related to Usher Syndrome, Type Ig according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.26 MYO7A PCDH15
2 photoreceptor inner segment GO:0001917 9.16 MYO7A USH1G
3 photoreceptor connecting cilium GO:0032391 8.96 MYO7A USH1G
4 stereocilium GO:0032420 8.8 CDH23 MYO7A PCDH15

Biological processes related to Usher Syndrome, Type Ig according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.63 CDH23 MYO7A PCDH15
2 sensory perception of sound GO:0007605 9.56 CDH23 MYO7A PCDH15 USH1G
3 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.52 CDH23 PCDH15
4 locomotory behavior GO:0007626 9.51 CDH23 PCDH15
5 photoreceptor cell maintenance GO:0045494 9.5 CDH23 PCDH15 USH1G
6 inner ear morphogenesis GO:0042472 9.49 MYO7A USH1G
7 inner ear development GO:0048839 9.48 MYO7A PCDH15
8 inner ear receptor cell stereocilium organization GO:0060122 9.46 CDH23 MYO7A PCDH15 USH1G
9 auditory receptor cell stereocilium organization GO:0060088 9.43 MYO7A PCDH15
10 inner ear auditory receptor cell differentiation GO:0042491 9.4 MYO7A PCDH15
11 inner ear receptor cell differentiation GO:0060113 9.37 MYO7A USH1G
12 sensory perception of light stimulus GO:0050953 9.26 CDH23 MYO7A PCDH15 USH1G
13 equilibrioception GO:0050957 8.92 CDH23 MYO7A PCDH15 USH1G

Molecular functions related to Usher Syndrome, Type Ig according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spectrin binding GO:0030507 8.62 MYO7A USH1G

Sources for Usher Syndrome, Type Ig

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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