USH1G
MCID: USH042
MIFTS: 37

Usher Syndrome, Type Ig (USH1G)

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

Aliases & Classifications for Usher Syndrome, Type Ig

MalaCards integrated aliases for Usher Syndrome, Type Ig:

Name: Usher Syndrome, Type Ig 57 72
Usher Syndrome, Type 1g 57 29 13 6 40
Ush1g 57 12 74
Usher Syndrome Type 1g 12 15
Usher Syndrome Type Ig 12 74
Usher's Syndrome Type 1g 74
Usher Syndrome 1g 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
usher syndrome, type ig:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110834
MeSH 44 D052245
ICD10 33 H35.5
MedGen 42 C1847089
UMLS 72 C1847089

Summaries for Usher Syndrome, Type Ig

UniProtKB/Swiss-Prot : 74 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 branchiootic syndrome 1 and usher syndrome. An important gene associated with Usher Syndrome, Type Ig is USH1G (USH1 Protein Network Component Sans). Affiliated tissues include bone, eye and retina, 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 Iv
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 36)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 31.2 USH1G MYO7A CDH23
2 usher syndrome 31.0 USH1G PCDH15 MYO7A CDH23
3 usher syndrome, type i 30.8 USH1G PCDH15 MYO7A CDH23
4 retinitis pigmentosa 30.6 USH1G PCDH15 MYO7A CDH23
5 nonsyndromic deafness 30.2 USH1G PCDH15 MYO7A CDH23
6 usher syndrome, type iiia 30.1 USH1G PCDH15 MYO7A CDH23
7 usher syndrome type 2 30.1 USH1G PCDH15 MYO7A CDH23
8 usher syndrome, type if 30.0 USH1G PCDH15 MYO7A CDH23
9 usher syndrome, type id 30.0 USH1G PCDH15 MYO7A CDH23
10 usher syndrome, type iid 30.0 USH1G PCDH15 MYO7A CDH23
11 usher syndrome, type iic 30.0 USH1G PCDH15 MYO7A CDH23
12 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.9 USH1G PCDH15 MYO7A CDH23
13 retinitis pigmentosa-deafness syndrome 29.7 PCDH15 MYO7A CDH23
14 sensorineural hearing loss 28.8 PCDH15 MYO7A CDH23
15 deafness, autosomal dominant 20 11.6
16 right atrial isomerism 11.3
17 autosomal dominant nonsyndromic deafness 11.1
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
19 neuroretinitis 10.4
20 retinitis 10.4
21 yemenite deaf-blind hypopigmentation syndrome 10.3
22 autosomal recessive disease 10.3
23 ciliopathy 10.1
24 retinal degeneration 10.1
25 dfnb1 9.9 PCDH15 MYO7A
26 deafness, autosomal recessive 83 9.7 MYO7A CDH23
27 deafness, autosomal recessive 85 9.6 MYO7A CDH23
28 autosomal recessive nonsyndromic deafness 3 9.6 MYO7A CDH23
29 usher syndrome, type ic 9.5 MYO7A CDH23
30 deafness, autosomal dominant 6 9.5 MYO7A CDH23
31 inner ear disease 9.4 MYO7A CDH23
32 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.2 MYO7A CDH23
33 deafness, autosomal recessive 23 9.2 PCDH15 MYO7A CDH23
34 deafness, autosomal recessive 12 9.1 PCDH15 MYO7A CDH23
35 auditory system disease 9.1 PCDH15 MYO7A CDH23
36 bardet-biedl syndrome 9.0 PCDH15 MYO7A CDH23

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

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

Symptoms via clinical synopsis from OMIM:

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

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM:

606943

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 CDH23 MYO7A PCDH15 USH1G
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, Eye, Retina

Publications for Usher Syndrome, Type Ig

Articles related to Usher Syndrome, Type Ig:

(show all 11)
# Title Authors PMID Year
1
A frameshift mutation in SANS results in atypical Usher syndrome. 8 71
21044053 2010
2
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. 8 71
12588794 2003
3
Clinical utility gene card for: Usher syndrome. 71
21697857 2011
4
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 71
15660226 2005
5
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. 8
12588793 2003
6
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. 8
11941484 2002
7
Usher Syndrome Type I 71
20301442 1999
8
Ultrastructural findings in the inner ear of Jackson shaker mice. 8
1442008 1992
9
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. 38
28835534 2017
10
Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans. 38
19270738 2009
11
Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues. 38
15461667 2004

Variations for Usher Syndrome, Type Ig

ClinVar genetic disease variations for Usher Syndrome, Type Ig:

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 USH1G NM_173477.5(USH1G): c.143T> C (p.Leu48Pro) single nucleotide variant Pathogenic rs104894651 17:72919026-72919026 17:74922931-74922931
2 USH1G NM_173477.5(USH1G): c.186_187del (p.Ile63fs) deletion Pathogenic rs730880268 17:72916744-72916745 17:74920649-74920650
3 USH1G NM_173477.5(USH1G): c.832_851del (p.Ser278fs) deletion Pathogenic rs397515345 17:72916080-72916099 17:74919985-74920004
4 USH1G NM_173477.5(USH1G): c.394dup (p.Val132fs) duplication Pathogenic rs587776546 17:72916537-72916537 17:74920442-74920442
5 USH1G NM_173477.5(USH1G): c.113G> A (p.Trp38Ter) single nucleotide variant Pathogenic rs104894652 17:72919056-72919056 17:74922961-74922961
6 PCDH15 NM_033056.4(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 10:56077174-56077174 10:54317414-54317414
7 USH1G USH1G, 15-BP DEL, NT163 deletion Pathogenic
8 PCDH15 NM_033056.4(PCDH15): c.394dup (p.Glu132fs) duplication Pathogenic rs397515566 10:56128960-56128960 10:54369200-54369200
9 USH1G NM_173477.5(USH1G): c.1060G> T (p.Asp354Tyr) single nucleotide variant Pathogenic 17:72915871-72915871 17:74919776-74919776
10 USH1G NM_173477.5(USH1G): c.1373A> T (p.Asp458Val) single nucleotide variant Likely pathogenic rs397517925 17:72915558-72915558 17:74919463-74919463
11 USH1G NM_173477.5(USH1G): c.644del (p.Lys215fs) deletion Uncertain significance 17:72916286-72916287 17:74920193-74920193

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

74
# Symbol AA change Variation ID SNP ID
1 USH1G p.Leu48Pro VAR_023739 rs104894651
2 USH1G p.Asp458Val VAR_060468 rs397517925

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 PCDH15 MYO7A
2 photoreceptor inner segment GO:0001917 9.16 USH1G MYO7A
3 photoreceptor connecting cilium GO:0032391 8.96 USH1G MYO7A
4 stereocilium GO:0032420 8.8 PCDH15 MYO7A CDH23

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

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 USH1G MYO7A

Sources for Usher Syndrome, Type Ig

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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