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 57 71
Usher Syndrome, Type 1g 57 29 13 6 39
Ush1g 57 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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
usher syndrome, type ig:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110834
OMIM® 57 606943
OMIM Phenotypic Series 57 PS276900
MeSH 44 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 deafness, autosomal dominant 20 and acute hemorrhagic leukoencephalitis. An important gene associated with Usher Syndrome, Type Ig is USH1G (USH1 Protein Network Component Sans). Affiliated tissues include eye, retina and 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) (Updated 05-Mar-2021)

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 68)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 20 31.5 USH1G CDH23
2 acute hemorrhagic leukoencephalitis 31.4 USH1G CDH23
3 usher syndrome 31.0 WHRN USH1G USH1C PCDH15 MYO7A MIR4523
4 retinal disease 30.9 USH1G USH1C PCDH15 MYO7A CDH23
5 usher syndrome, type i 30.8 WHRN USH1G USH1C PCDH15 MYO7A MIR4523
6 usher syndrome, type iiib 30.7 WHRN USH1G USH1C PCDH15 MYO7A
7 usher syndrome, type ic 30.7 USH1G USH1C PCDH15 MYO7A CDH23
8 usher syndrome type 2 30.7 WHRN USH1G USH1C PCDH15 MYO7A CDH23
9 usher syndrome, type iiia 30.6 WHRN USH1G USH1C PCDH15 MYO7A CDH23
10 sensorineural hearing loss 30.6 WHRN USH1G USH1C PCDH15 MYO7A CDH23
11 retinitis pigmentosa 30.5 WHRN USH1G USH1C RDH11 PCDH15 MYO7A
12 usher syndrome, type ih 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
13 usher syndrome, type ij 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
14 usher syndrome, type iid 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
15 deafness, autosomal recessive 2 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
16 deafness, autosomal recessive 23 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
17 deafness, autosomal dominant 11 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
18 usher syndrome, type if 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
19 usher syndrome, type iic 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
20 digenic disease 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
21 usher syndrome, type id 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
22 deafness, autosomal recessive 12 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
23 auditory system disease 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
24 autosomal dominant nonsyndromic deafness 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
25 eye degenerative disease 30.4 WHRN USH1G USH1C PCDH15 MYO7A CDH23
26 retinitis pigmentosa-deafness syndrome 30.0 WHRN USH1C PCDH15 MYO7A CDH23
27 fundus dystrophy 29.9 WHRN USH1G USH1C RDH11 PCDH15 MYO7A
28 branchiootic syndrome 1 29.8 WHRN USH1G MYO7A CDH23
29 nonsyndromic hearing loss 29.7 PCDH15 MYO7A CDH23
30 amme complex 10.8
31 neuroretinitis 10.2
32 retinitis 10.2
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
34 usher syndrome, type ik 10.2 PCDH15 CDH23
35 y-linked monogenic disease 10.2 PCDH15 CDH23
36 deafness, autosomal dominant 65 10.2 WHRN PCDH15
37 autosomal recessive nonsyndromic deafness 36 10.1 WHRN USH1C PCDH15
38 autosomal recessive disease 10.1
39 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.1 PCDH15 CDH23
40 dfnb1 10.0 PCDH15 MYO7A
41 deafness, autosomal recessive 10.0 WHRN USH1G USH1C PCDH15
42 deafness, autosomal dominant 36 10.0 PCDH15 CDH23
43 deafness, autosomal recessive 86 10.0 WHRN PCDH15 CDH23
44 yemenite deaf-blind hypopigmentation syndrome 10.0
45 deafness, autosomal recessive 83 10.0 MYO7A CDH23
46 deafness, autosomal dominant 6 9.9 MYO7A CDH23
47 deafness, autosomal recessive 48 9.9 WHRN MYO7A
48 deafness, autosomal recessive 30 9.9 WHRN PCDH15 MYO7A
49 deafness, autosomal recessive 7 9.9 MYO7A CDH23
50 retinal degeneration 9.9

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®:

57 (Updated 05-Mar-2021)
Head And Neck Ears:
vestibular dysfunction
hearing loss, profound congenital

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM®:

606943 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Usher Syndrome, Type Ig:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.1 CDH23 MYO7A 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, Retina, Bone

Publications for Usher Syndrome, Type Ig

Articles related to Usher Syndrome, Type Ig:

# Title Authors PMID Year
1
A frameshift mutation in SANS results in atypical Usher syndrome. 6 57
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 57
12588794 2003
3
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 6
15660226 2005
4
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. 57
12588793 2003
5
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. 57
11941484 2002
6
Ultrastructural findings in the inner ear of Jackson shaker mice. 57
1442008 1992
7
Corticosterone Is Essential for Survival Through Frog Metamorphosis. 61
33099610 2020
8
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. 61
28835534 2017
9
Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans. 61
19270738 2009
10
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 USH1G, 15-BP DEL, NT163 Deletion Pathogenic 31577
2 PCDH15 NM_033056.4(PCDH15):c.394dup (p.Glu132fs) Duplication Pathogenic 65739 rs397515566 10:56128959-56128960 10:54369199-54369200
3 USH1G NM_173477.5(USH1G):c.143T>C (p.Leu48Pro) SNV Pathogenic 2914 rs104894651 17:72919026-72919026 17:74922931-74922931
4 USH1G NM_173477.5(USH1G):c.186_187del (p.Ile63fs) Deletion Pathogenic 2915 rs730880268 17:72916744-72916745 17:74920649-74920650
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 USH1G NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr) SNV Pathogenic 627491 rs1316299165 17:72915871-72915871 17:74919776-74919776
9 USH1G NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) SNV Pathogenic 560918 rs201866631 17:72916420-72916420 17:74920325-74920325
10 PCDH15 NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) SNV Pathogenic 4933 rs111033260 10:56077174-56077174 10:54317414-54317414
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.837C>G (p.Asp279Glu) SNV Uncertain significance 178570 rs142486910 17:72916094-72916094 17:74919999-74919999
13 USH1G NM_173477.5(USH1G):c.644del (p.Lys215fs) Deletion Uncertain significance 631786 rs1567940040 17:72916287-72916287 17:74920192-74920192
14 USH1G NM_173477.5(USH1G):c.*831C>T SNV Uncertain significance 891587 17:72913336-72913336 17:74917242-74917242
15 USH1G NM_173477.5(USH1G):c.*1922A>G SNV Uncertain significance 891775 17:72912243-72912243 17:74916151-74916151
16 USH1G NM_173477.5(USH1G):c.*704G>A SNV Uncertain significance 891841 17:72913463-72913463 17:74917369-74917369
17 USH1G NM_173477.5(USH1G):c.*680C>G SNV Uncertain significance 891842 17:72913487-72913487 17:74917393-74917393
18 USH1G NM_173477.5(USH1G):c.*567C>G SNV Uncertain significance 891843 17:72913600-72913600 17:74917506-74917506
19 USH1G NM_173477.5(USH1G):c.*482C>T SNV Uncertain significance 891844 17:72913685-72913685 17:74917591-74917591
20 USH1G NM_173477.5(USH1G):c.327C>T (p.Gly109=) SNV Uncertain significance 891904 17:72916604-72916604 17:74920509-74920509
21 USH1G NM_173477.5(USH1G):c.126T>C (p.His42=) SNV Uncertain significance 891905 17:72919043-72919043 17:74922948-74922948
22 USH1G NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) SNV Uncertain significance 48139 rs145448362 17:72919086-72919086 17:74922991-74922991
23 USH1G NM_173477.5(USH1G):c.-2C>T SNV Uncertain significance 283166 rs758940726 17:72919170-72919170 17:74923075-74923075
24 USH1G NM_173477.5(USH1G):c.-8C>T SNV Uncertain significance 229611 rs769903865 17:72919176-72919176 17:74923081-74923081
25 USH1G NM_173477.5(USH1G):c.-76A>G SNV Uncertain significance 891906 17:72919244-72919244 17:74923149-74923149
26 USH1G NM_173477.5(USH1G):c.*1447C>T SNV Uncertain significance 889342 17:72912718-72912718 17:74916626-74916626
27 USH1G NM_173477.5(USH1G):c.*1376G>A SNV Uncertain significance 889343 17:72912789-72912789 17:74916697-74916697
28 USH1G NM_173477.5(USH1G):c.*256C>T SNV Uncertain significance 889399 17:72913912-72913912 17:74917817-74917817
29 USH1G NM_173477.5(USH1G):c.*233C>G SNV Uncertain significance 889400 17:72913935-72913935 17:74917840-74917840
30 USH1G NM_173477.5(USH1G):c.*198T>C SNV Uncertain significance 889401 17:72913970-72913970 17:74917875-74917875
31 USH1G NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) SNV Uncertain significance 48126 rs139897506 17:72915673-72915673 17:74919578-74919578
32 USH1G NM_173477.5(USH1G):c.*1191G>A SNV Uncertain significance 890030 17:72912974-72912974 17:74916882-74916882
33 USH1G NM_173477.5(USH1G):c.*1174T>G SNV Uncertain significance 890031 17:72912991-72912991 17:74916899-74916899
34 USH1G NM_173477.5(USH1G):c.*1154T>A SNV Uncertain significance 890032 17:72913011-72913011 17:74916919-74916919
35 USH1G NM_173477.5(USH1G):c.*1130T>C SNV Uncertain significance 890033 17:72913035-72913035 17:74916943-74916943
36 USH1G NM_173477.5(USH1G):c.1170C>T (p.Ser390=) SNV Uncertain significance 513512 rs199724052 17:72915761-72915761 17:74919666-74919666
37 USH1G NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser) SNV Uncertain significance 890085 17:72915789-72915789 17:74919694-74919694
38 USH1G NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn) SNV Uncertain significance 852631 17:72915874-72915874 17:74919779-74919779
39 USH1G NM_173477.5(USH1G):c.635G>C (p.Gly212Ala) SNV Uncertain significance 850726 17:72916296-72916296 17:74920201-74920201
40 USH1G NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) SNV Uncertain significance 48134 rs201644674 17:72916365-72916365 17:74920270-74920270
41 USH1G NM_173477.5(USH1G):c.501C>G (p.Arg167=) SNV Uncertain significance 48132 rs141688757 17:72916430-72916430 17:74920335-74920335
42 USH1G NM_173477.5(USH1G):c.424G>C (p.Glu142Gln) SNV Uncertain significance 890666 17:72916507-72916507 17:74920412-74920412
43 USH1G NM_173477.5(USH1G):c.*1052C>T SNV Uncertain significance 891585 17:72913115-72913115 17:74917021-74917021
44 USH1G NM_173477.5(USH1G):c.348C>T (p.Tyr116=) SNV Uncertain significance 325058 rs886053390 17:72916583-72916583 17:74920488-74920488
45 USH1G NM_173477.5(USH1G):c.*95C>G SNV Uncertain significance 325050 rs886053388 17:72914073-72914073 17:74917978-74917978
46 USH1G NM_173477.5(USH1G):c.*1119G>A SNV Uncertain significance 325039 rs182142592 17:72913046-72913046 17:74916954-74916954
47 USH1G NM_173477.5(USH1G):c.478C>G (p.Arg160Gly) SNV Uncertain significance 325055 rs376527217 17:72916453-72916453 17:74920358-74920358
48 USH1G NM_173477.5(USH1G):c.1152C>T (p.Asp384=) SNV Uncertain significance 178968 rs569032124 17:72915779-72915779 17:74919684-74919684
49 USH1G NM_173477.5(USH1G):c.344G>A (p.Arg115His) SNV Uncertain significance 325059 rs775117744 17:72916587-72916587 17:74920492-74920492
50 USH1G NM_173477.5(USH1G):c.*1018G>A SNV Uncertain significance 325042 rs780234900 17:72913149-72913149 17:74917055-74917055

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 outer segment GO:0001750 9.5 USH1C PCDH15 MYO7A
2 photoreceptor inner segment GO:0001917 9.46 WHRN USH1G USH1C MYO7A
3 stereocilium tip GO:0032426 9.37 WHRN USH1C
4 stereocilia ankle link complex GO:0002142 9.26 WHRN USH1C
5 photoreceptor connecting cilium GO:0032391 9.26 WHRN USH1G USH1C MYO7A
6 stereocilium GO:0032420 9.02 WHRN USH1C PCDH15 MYO7A 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 9.73 WHRN USH1G USH1C PCDH15 MYO7A CDH23
2 photoreceptor cell maintenance GO:0045494 9.62 USH1G USH1C PCDH15 CDH23
3 inner ear receptor cell stereocilium organization GO:0060122 9.55 WHRN USH1G USH1C MYO7A CDH23
4 inner ear morphogenesis GO:0042472 9.54 USH1G USH1C MYO7A
5 auditory receptor cell stereocilium organization GO:0060088 9.46 WHRN MYO7A
6 inner ear receptor cell differentiation GO:0060113 9.43 USH1G MYO7A
7 inner ear auditory receptor cell differentiation GO:0042491 9.4 USH1C MYO7A
8 equilibrioception GO:0050957 9.35 USH1G USH1C PCDH15 MYO7A CDH23
9 sensory perception of light stimulus GO:0050953 9.1 WHRN USH1G USH1C 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 8.8 USH1G USH1C MYO7A

Sources for Usher Syndrome, Type Ig

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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