USH1G
MCID: USH042
MIFTS: 39

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 56 71
Usher Syndrome, Type 1g 56 29 13 6 39
Ush1g 56 12 73
Usher Syndrome Type 1g 12 15
Usher Syndrome Type Ig 12 73
Usher's Syndrome Type 1g 73
Usher Syndrome 1g 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
usher syndrome, type ig:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110834
OMIM 56 606943
OMIM Phenotypic Series 56 PS276900
MeSH 43 D052245
ICD10 32 H35.5
MedGen 41 C1847089
SNOMED-CT via HPO 68 258211005 28835009 60700002
UMLS 71 C1847089

Summaries for Usher Syndrome, Type Ig

UniProtKB/Swiss-Prot : 73 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 branchiootic syndrome 1. An important gene associated with Usher Syndrome, Type Ig is USH1G (USH1 Protein Network Component Sans). Affiliated tissues include eye, bone 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 : 56 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 1m 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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 32.0 WHRN USH1G USH1C PCDH15 CDH23
2 branchiootic syndrome 1 32.0 WHRN USH1G CDH23
3 deafness, autosomal dominant 20 32.0 USH1G CDH23
4 acute hemorrhagic leukoencephalitis 31.6 USH1G CDH23
5 usher syndrome, type i 31.6 WHRN USH1G USH1C PCDH15 MIR4523 CDH23
6 usher syndrome type 2 31.4 WHRN USH1G USH1C PCDH15 CDH23
7 usher syndrome, type iiib 31.4 WHRN USH1G USH1C PCDH15
8 sensorineural hearing loss 31.4 WHRN USH1G USH1C PCDH15 CDH23
9 retinal disease 31.3 USH1G USH1C PCDH15 CDH23
10 usher syndrome, type iiia 30.9 WHRN USH1G USH1C PCDH15 CDH23
11 retinitis pigmentosa-deafness syndrome 30.8 WHRN CDH23
12 usher syndrome, type ih 30.8 WHRN USH1G USH1C PCDH15 CDH23
13 usher syndrome, type ij 30.8 WHRN USH1G USH1C PCDH15 CDH23
14 usher syndrome, type iid 30.8 WHRN USH1G USH1C PCDH15 CDH23
15 usher syndrome, type ic 30.8 WHRN USH1G USH1C PCDH15 CDH23
16 deafness, autosomal recessive 2 30.8 WHRN USH1G USH1C PCDH15 CDH23
17 deafness, autosomal recessive 23 30.7 WHRN USH1G USH1C PCDH15 CDH23
18 deafness, autosomal dominant 11 30.7 WHRN USH1G USH1C PCDH15 CDH23
19 usher syndrome, type if 30.7 WHRN USH1G USH1C PCDH15 CDH23
20 usher syndrome, type iic 30.7 WHRN USH1G USH1C PCDH15 CDH23
21 usher syndrome, type id 30.7 WHRN USH1G USH1C PCDH15 CDH23
22 digenic disease 30.7 WHRN USH1G USH1C PCDH15 CDH23
23 deafness, autosomal recessive 12 30.7 WHRN USH1G USH1C PCDH15 CDH23
24 auditory system disease 30.7 WHRN USH1G USH1C PCDH15 CDH23
25 autosomal dominant nonsyndromic deafness 30.7 WHRN USH1G USH1C PCDH15 CDH23
26 fundus dystrophy 30.6 WHRN USH1G USH1C PCDH15 CDH23
27 retinitis pigmentosa 11.7
28 neuroretinitis 10.5
29 retinitis 10.5
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
31 autosomal recessive disease 10.3
32 yemenite deaf-blind hypopigmentation syndrome 10.3
33 nonsyndromic hearing loss 10.3
34 deafness, autosomal dominant 65 10.1 WHRN PCDH15
35 deafness, autosomal recessive 48 10.1 WHRN PCDH15
36 retinal degeneration 10.1
37 night blindness 10.1
38 retinal ciliopathy 10.1
39 ciliopathy 10.1
40 deafness, autosomal recessive 57 10.1 WHRN USH1C
41 deafness, autosomal recessive 30 10.1 WHRN PCDH15
42 deafness, autosomal recessive 10.1 WHRN USH1C PCDH15
43 usher syndrome, type ik 10.1 PCDH15 CDH23
44 y-linked monogenic disease 10.0 PCDH15 CDH23
45 autosomal recessive nonsyndromic deafness 3 10.0 WHRN CDH23
46 deafness, autosomal dominant 36 9.9 PCDH15 CDH23
47 deafness, autosomal recessive 18a 9.9 USH1C PCDH15 CDH23
48 deafness, autosomal recessive 16 9.9 USH1C PCDH15 CDH23
49 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 9.8 PCDH15 CDH23
50 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 USH1C PCDH15 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:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 rod-cone dystrophy 31 HP:0000510
3 vestibular dysfunction 31 HP:0001751
4 hypoplasia of the nasal bone 31 HP:0004646

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 CDH23 PCDH15 USH1C USH1G WHRN

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:

40
Eye, Bone, 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. 6 56
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. 6 56
12588794 2003
3
Clinical utility gene card for: Usher syndrome. 6
21697857 2011
4
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 6
15660226 2005
5
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. 56
12588793 2003
6
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. 56
11941484 2002
7
Usher Syndrome Type I 6
20301442 1999
8
Ultrastructural findings in the inner ear of Jackson shaker mice. 56
1442008 1992
9
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. 61
28835534 2017
10
Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans. 61
19270738 2009
11
Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues. 61
15461667 2004

Variations for Usher Syndrome, Type Ig

ClinVar genetic disease variations for Usher Syndrome, Type Ig:

6 (show top 50) (show all 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 USH1G NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)SNV Pathogenic 560918 rs201866631 17:72916420-72916420 17:74920325-74920325
2 USH1G NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr)SNV Pathogenic 627491 rs1316299165 17:72915871-72915871 17:74919776-74919776
3 USH1G NM_173477.5(USH1G):c.186_187del (p.Ile63fs)deletion Pathogenic 2915 rs730880268 17:72916744-72916745 17:74920649-74920650
4 USH1G NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)SNV Pathogenic 2914 rs104894651 17:72919026-72919026 17:74922931-74922931
5 USH1G NM_173477.5(USH1G):c.832_851del (p.Ser278fs)deletion Pathogenic 2916 rs397515345 17:72916080-72916099 17:74919985-74920004
6 USH1G NM_173477.5(USH1G):c.394dup (p.Val132fs)duplication Pathogenic 2917 rs587776546 17:72916536-72916537 17:74920441-74920442
7 USH1G NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)SNV Pathogenic 2918 rs104894652 17:72919056-72919056 17:74922961-74922961
8 PCDH15 NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter)SNV Pathogenic 4933 rs111033260 10:56077174-56077174 10:54317414-54317414
9 USH1G USH1G, 15-BP DEL, NT163deletion Pathogenic 31577
10 PCDH15 NM_033056.4(PCDH15):c.394dup (p.Glu132fs)duplication Pathogenic 65739 rs397515566 10:56128959-56128960 10:54369199-54369200
11 USH1G NM_173477.5(USH1G):c.1311del (p.Lys438fs)deletion Likely pathogenic 287391 rs886043626 17:72915620-72915620 17:74919525-74919525
12 USH1G NM_173477.5(USH1G):c.1152C>T (p.Asp384=)SNV Conflicting interpretations of pathogenicity 178968 rs569032124 17:72915779-72915779 17:74919684-74919684
13 USH1G NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)SNV Conflicting interpretations of pathogenicity 178570 rs142486910 17:72916094-72916094 17:74919999-74919999
14 USH1G NM_173477.5(USH1G):c.1170C>T (p.Ser390=)SNV Conflicting interpretations of pathogenicity 513512 rs199724052 17:72915761-72915761 17:74919666-74919666
15 USH1G NM_173477.5(USH1G):c.501C>G (p.Arg167=)SNV Conflicting interpretations of pathogenicity 48132 rs141688757 17:72916430-72916430 17:74920335-74920335
16 USH1G NM_173477.5(USH1G):c.566G>A (p.Arg189Gln)SNV Conflicting interpretations of pathogenicity 48134 rs201644674 17:72916365-72916365 17:74920270-74920270
17 USH1G NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)SNV Conflicting interpretations of pathogenicity 48139 rs145448362 17:72919086-72919086 17:74922991-74922991
18 USH1G NM_173477.5(USH1G):c.*831C>TSNV Uncertain significance 891587 17:72913336-72913336 17:74917242-74917242
19 USH1G NM_173477.5(USH1G):c.*1052C>TSNV Uncertain significance 891585 17:72913115-72913115 17:74917021-74917021
20 USH1G NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)SNV Uncertain significance 48126 rs139897506 17:72915673-72915673 17:74919578-74919578
21 USH1G NM_173477.5(USH1G):c.644del (p.Lys215fs)deletion Uncertain significance 631786 rs1567940040 17:72916287-72916287 17:74920192-74920192
22 USH1G NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn)SNV Uncertain significance 852631 17:72915874-72915874 17:74919779-74919779
23 USH1G NM_173477.5(USH1G):c.635G>C (p.Gly212Ala)SNV Uncertain significance 850726 17:72916296-72916296 17:74920201-74920201
24 USH1G NM_173477.5(USH1G):c.*1922A>GSNV Uncertain significance 891775 17:72912243-72912243 17:74916151-74916151
25 USH1G NM_173477.5(USH1G):c.*1447C>TSNV Uncertain significance 889342 17:72912718-72912718 17:74916626-74916626
26 USH1G NM_173477.5(USH1G):c.*1376G>ASNV Uncertain significance 889343 17:72912789-72912789 17:74916697-74916697
27 USH1G NM_173477.5(USH1G):c.*1191G>ASNV Uncertain significance 890030 17:72912974-72912974 17:74916882-74916882
28 USH1G NM_173477.5(USH1G):c.*1174T>GSNV Uncertain significance 890031 17:72912991-72912991 17:74916899-74916899
29 USH1G NM_173477.5(USH1G):c.*1154T>ASNV Uncertain significance 890032 17:72913011-72913011 17:74916919-74916919
30 USH1G NM_173477.5(USH1G):c.*1130T>CSNV Uncertain significance 890033 17:72913035-72913035 17:74916943-74916943
31 USH1G NM_173477.5(USH1G):c.*704G>ASNV Uncertain significance 891841 17:72913463-72913463 17:74917369-74917369
32 USH1G NM_173477.5(USH1G):c.*680C>GSNV Uncertain significance 891842 17:72913487-72913487 17:74917393-74917393
33 USH1G NM_173477.5(USH1G):c.*567C>GSNV Uncertain significance 891843 17:72913600-72913600 17:74917506-74917506
34 USH1G NM_173477.5(USH1G):c.*482C>TSNV Uncertain significance 891844 17:72913685-72913685 17:74917591-74917591
35 USH1G NM_173477.5(USH1G):c.*256C>TSNV Uncertain significance 889399 17:72913912-72913912 17:74917817-74917817
36 USH1G NM_173477.5(USH1G):c.*233C>GSNV Uncertain significance 889400 17:72913935-72913935 17:74917840-74917840
37 USH1G NM_173477.5(USH1G):c.*198T>CSNV Uncertain significance 889401 17:72913970-72913970 17:74917875-74917875
38 USH1G NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser)SNV Uncertain significance 890085 17:72915789-72915789 17:74919694-74919694
39 USH1G NM_173477.5(USH1G):c.424G>C (p.Glu142Gln)SNV Uncertain significance 890666 17:72916507-72916507 17:74920412-74920412
40 USH1G NM_173477.5(USH1G):c.327C>T (p.Gly109=)SNV Uncertain significance 891904 17:72916604-72916604 17:74920509-74920509
41 USH1G NM_173477.5(USH1G):c.126T>C (p.His42=)SNV Uncertain significance 891905 17:72919043-72919043 17:74922948-74922948
42 USH1G NM_173477.5(USH1G):c.-76A>GSNV Uncertain significance 891906 17:72919244-72919244 17:74923149-74923149
43 USH1G NM_173477.5(USH1G):c.-8C>TSNV Uncertain significance 229611 rs769903865 17:72919176-72919176 17:74923081-74923081
44 USH1G NM_173477.5(USH1G):c.-2C>TSNV Uncertain significance 283166 rs758940726 17:72919170-72919170 17:74923075-74923075
45 USH1G NM_173477.5(USH1G):c.*1719G>TSNV Uncertain significance 325032 rs886053384 17:72912446-72912446 17:74916354-74916354
46 USH1G NM_173477.5(USH1G):c.563G>T (p.Arg188Leu)SNV Uncertain significance 325054 rs201123735 17:72916368-72916368 17:74920273-74920273
47 USH1G NM_173477.5(USH1G):c.344G>A (p.Arg115His)SNV Uncertain significance 325059 rs775117744 17:72916587-72916587 17:74920492-74920492
48 USH1G NM_173477.5(USH1G):c.-173G>CSNV Uncertain significance 325060 rs570755897 17:72919341-72919341 17:74923246-74923246
49 USH1G NM_173477.5(USH1G):c.*49C>TSNV Uncertain significance 325052 rs199648830 17:72914119-72914119 17:74918024-74918024
50 USH1G NM_173477.5(USH1G):c.753C>T (p.Ser251=)SNV Uncertain significance 325053 rs886053389 17:72916178-72916178 17:74920083-74920083

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

73
# 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 inner segment GO:0001917 9.43 WHRN USH1G USH1C
2 stereocilium tip GO:0032426 9.37 WHRN USH1C
3 stereocilia ankle link complex GO:0002142 9.32 WHRN USH1C
4 stereocilia ankle link GO:0002141 9.16 WHRN USH1C
5 photoreceptor connecting cilium GO:0032391 9.13 WHRN USH1G USH1C
6 stereocilium GO:0032420 8.92 WHRN USH1C PCDH15 CDH23

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.72 WHRN USH1G USH1C PCDH15 CDH23
2 photoreceptor cell maintenance GO:0045494 9.56 USH1G USH1C PCDH15 CDH23
3 auditory receptor cell stereocilium organization GO:0060088 9.46 WHRN PCDH15
4 equilibrioception GO:0050957 9.46 USH1G USH1C PCDH15 CDH23
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.43 WHRN PCDH15
6 inner ear receptor cell development GO:0060119 9.4 WHRN USH1C
7 inner ear auditory receptor cell differentiation GO:0042491 9.37 USH1C PCDH15
8 inner ear receptor cell stereocilium organization GO:0060122 9.35 WHRN USH1G USH1C PCDH15 CDH23
9 sensory perception of light stimulus GO:0050953 9.02 WHRN USH1G USH1C PCDH15 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 USH1C

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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