MCID: USH022
MIFTS: 38

Usher Syndrome, Type 1g

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

Aliases & Classifications for Usher Syndrome, Type 1g

MalaCards integrated aliases for Usher Syndrome, Type 1g:

Name: Usher Syndrome, Type 1g 54 29 13
Usher Syndrome Type 1g 12 24 14
Ush1g 12 24 71
Usher Syndrome Type Ig 12 71
Usher's Syndrome Type 1g 71
Usher Syndrome, Type Ig 69
Usher Syndrome 1g 71
Ush 1g 24

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
usher syndrome, type 1g:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 606943
Disease Ontology 12 DOID:0110834
ICD10 33 H35.5
MedGen 40 C1847089
MeSH 42 D052245
SNOMED-CT via HPO 65 258211005 60700002 28835009

Summaries for Usher Syndrome, Type 1g

UniProtKB/Swiss-Prot : 71 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 1g, also known as usher syndrome type 1g, is related to usher syndrome and autosomal dominant nonsyndromic deafness 69, and has symptoms including rod-cone dystrophy, sensorineural hearing impairment and vestibular dysfunction. An important gene associated with Usher Syndrome, Type 1g is USH1G (USH1 Protein Network Component Sans). Affiliated tissues include bone, and related phenotypes are behavior/neurological and hearing/vestibular/ear

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 : 54
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 1g

Diseases in the Usher Syndrome family:

Usher Syndrome, Type 2a Usher Syndrome, Type 3a
Usher Syndrome, Type 2c Usher Syndrome Type 3b
Usher Syndrome, Type 2d Usher Syndrome, Type Ik
Usher Syndrome, Type 1d Usher Syndrome, Type 1f
Usher Syndrome, Type 1c Usher Syndrome, Type 1b
Usher Syndrome, Type Ij Usher Syndrome, Type 1g
Usher Syndrome Type 2 Usher Syndrome Type 1h
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome, Type 1g via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 usher syndrome 10.1
2 autosomal dominant nonsyndromic deafness 69 10.0 USH1C USH1G
3 diabetes persistent mullerian ducts 9.7 MYO7A PCDH15
4 bifid nose with or without anorectal and renal anomalies 9.6 CDH23 MYO7A
5 ectodermal dysplasia 6, hair/nail type 9.6 CDH23 MYO7A
6 congenital muscular dystrophy due to lmna mutation 9.5 CDH23 MYO7A
7 whipple disease 9.5 MYO7A USH1C
8 autosomal recessive nonsyndromic deafness 8 9.5 CDH23 MYO7A
9 mixed lacrimal gland cancer 9.4 CDH23 MYO7A
10 dihydrolipoamide dehydrogenase deficiency 9.3 CDH23 MYO7A
11 hereditary breast ovarian cancer 9.2 MYO7A PCDH15 USH1C
12 hyperphenylalaninemia, mild, non-bh4-deficient 9.2 CDH23 MYO7A PCDH15
13 narcissistic personality disorder 9.2 CDH23 MYO7A PCDH15
14 endometritis 9.1 CDH23 MYO7A
15 deafness, autosomal recessive 23 8.9 MYO7A PCDH15 USH1C USH1G
16 deafness, autosomal recessive 18a 8.7 CDH23 MYO7A USH1C USH1G
17 pituitary adenoma 8.7 CDH23 MYO7A PCDH15 USH1C
18 discrete papular lichen myxedematosus 8.7 CDH23 MYO7A PCDH15 USH1C
19 trichomoniasis 8.6 CDH23 MYO7A PCDH15 USH1C
20 amelogenesis imperfecta, type ig 8.3 CDH23 MYO7A PCDH15 USH1C USH1G
21 deafness, autosomal recessive 12 8.3 CDH23 MYO7A PCDH15 USH1C USH1G
22 asthma-related traits 8 8.3 CDH23 MYO7A PCDH15 USH1C USH1G
23 retinitis pigmentosa 61 8.3 CDH23 MYO7A PCDH15 USH1C USH1G
24 trichohepatoenteric syndrome 1 8.3 CDH23 MYO7A PCDH15 USH1C USH1G
25 usher syndrome type 1h 8.2 CDH23 MYO7A PCDH15 USH1C USH1G
26 deafness, autosomal recessive 2 8.2 CDH23 MYO7A PCDH15 USH1C USH1G
27 brugada syndrome 8.2 CDH23 MYO7A PCDH15 USH1C USH1G
28 autosomal recessive nonsyndromic deafness 8.2 CDH23 MYO7A PCDH15 USH1C USH1G
29 scar contracture 8.2 CDH23 MYO7A PCDH15 USH1C USH1G

Graphical network of the top 20 diseases related to Usher Syndrome, Type 1g:



Diseases related to Usher Syndrome, Type 1g

Symptoms & Phenotypes for Usher Syndrome, Type 1g

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
retinitis pigmentosa

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


Clinical features from OMIM:

606943

Human phenotypes related to Usher Syndrome, Type 1g:

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

MGI Mouse Phenotypes related to Usher Syndrome, Type 1g:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 CDH23 MYO7A PCDH15 USH1C USH1G
2 hearing/vestibular/ear MP:0005377 9.55 CDH23 MYO7A PCDH15 USH1C USH1G
3 nervous system MP:0003631 9.35 CDH23 MYO7A PCDH15 USH1C USH1G
4 vision/eye MP:0005391 9.02 CDH23 MYO7A PCDH15 USH1C USH1G

Drugs & Therapeutics for Usher Syndrome, Type 1g

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type 1g

Genetic Tests for Usher Syndrome, Type 1g

Genetic tests related to Usher Syndrome, Type 1g:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1g 29
2 Usher Syndrome Type 1g 24 USH1G

Anatomical Context for Usher Syndrome, Type 1g

MalaCards organs/tissues related to Usher Syndrome, Type 1g:

39
Bone

Publications for Usher Syndrome, Type 1g

Articles related to Usher Syndrome, Type 1g:

id 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 1g

UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 1g:

71
id 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 1g:

6
id 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.186_187delCA (p.Ile63Leufs) deletion Pathogenic rs730880268 GRCh37 Chromosome 17, 72916744: 72916745
3 USH1G NM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs) deletion Pathogenic rs397515345 GRCh37 Chromosome 17, 72916080: 72916099
4 USH1G NM_173477.4(USH1G): c.394dupG (p.Val132Glyfs) duplication Pathogenic rs587776546 GRCh37 Chromosome 17, 72916537: 72916537
5 USH1G NM_173477.4(USH1G): c.113G> A (p.Trp38Ter) single nucleotide variant Pathogenic rs104894652 GRCh37 Chromosome 17, 72919056: 72919056
6 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
7 USH1G USH1G, 15-BP DEL, NT163 deletion Pathogenic
8 USH1G NM_173477.4(USH1G): c.1373A> T (p.Asp458Val) single nucleotide variant Likely pathogenic rs397517925 GRCh37 Chromosome 17, 72915558: 72915558
9 PCDH15 NM_033056.3(PCDH15): c.394dupG (p.Glu132Glyfs) duplication Pathogenic rs397515566 GRCh37 Chromosome 10, 56128960: 56128960
10 USH1G NM_173477.4(USH1G): c.1311delG (p.Lys438Argfs) deletion Likely pathogenic rs886043626 GRCh37 Chromosome 17, 72915620: 72915620

Expression for Usher Syndrome, Type 1g

Search GEO for disease gene expression data for Usher Syndrome, Type 1g.

Pathways for Usher Syndrome, Type 1g

GO Terms for Usher Syndrome, Type 1g

Cellular components related to Usher Syndrome, Type 1g according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.54 MYO7A PCDH15 USH1C
2 photoreceptor outer segment GO:0001750 9.33 MYO7A PCDH15 USH1C
3 microvillus GO:0005902 9.32 MYO7A USH1C
4 photoreceptor connecting cilium GO:0032391 9.26 MYO7A USH1G
5 photoreceptor inner segment GO:0001917 9.13 MYO7A USH1C USH1G
6 stereocilium GO:0032420 8.92 CDH23 MYO7A PCDH15 USH1C

Biological processes related to Usher Syndrome, Type 1g according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.65 CDH23 MYO7A PCDH15
2 sensory perception of sound GO:0007605 9.65 CDH23 MYO7A PCDH15 USH1C USH1G
3 photoreceptor cell maintenance GO:0045494 9.62 CDH23 PCDH15 USH1C USH1G
4 inner ear morphogenesis GO:0042472 9.58 MYO7A USH1C USH1G
5 inner ear receptor stereocilium organization GO:0060122 9.55 CDH23 MYO7A PCDH15 USH1C USH1G
6 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.54 CDH23 PCDH15
7 auditory receptor cell differentiation GO:0042491 9.54 MYO7A PCDH15 USH1C
8 locomotory behavior GO:0007626 9.52 CDH23 PCDH15
9 inner ear development GO:0048839 9.51 MYO7A PCDH15
10 actin filament bundle assembly GO:0051017 9.49 PCDH15 USH1C
11 auditory receptor cell stereocilium organization GO:0060088 9.46 MYO7A PCDH15
12 inner ear receptor cell differentiation GO:0060113 9.43 MYO7A USH1G
13 sensory perception of light stimulus GO:0050953 9.35 CDH23 MYO7A PCDH15 USH1C USH1G
14 equilibrioception GO:0050957 9.02 CDH23 MYO7A PCDH15 USH1C USH1G

Molecular functions related to Usher Syndrome, Type 1g according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.16 MYO7A USH1C
2 protein N-terminus binding GO:0047485 8.96 MYO7A PCDH15
3 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type 1g

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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