MCID: USH022
MIFTS: 37

Usher Syndrome, Type 1g malady

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

Aliases & Classifications for Usher Syndrome, Type 1g

About this section

Aliases & Descriptions for Usher Syndrome, Type 1g:

Name: Usher Syndrome, Type 1g 50 12
Usher's Syndrome Type 1g 68 25
Ush1g 23 68
Usher Syndrome, Type Ig 66
 
Usher Syndrome Type Ig 68
Usher Syndrome Type 1g 23
Usher Syndrome 1g 68
Ush 1g 23

Characteristics:

HPO:

62
usher syndrome, type 1g:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 606943
MedGen35 C1847089
MeSH37 D052245

Summaries for Usher Syndrome, Type 1g

About this section
UniProtKB/Swiss-Prot:68 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's syndrome type 1g, is related to usher syndrome and ovarian embryonal carcinoma, and has symptoms including sensorineural hearing impairment, rod-cone dystrophy 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 mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

OMIM:50 Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive... (606943) more...

Related Diseases for Usher Syndrome, Type 1g

About this section

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 Ii Usher Syndrome, Type 2b
Usher Syndrome Type 1h Usher Syndrome Type 1j
Usher Syndrome Type 1k

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

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome10.0
2ovarian embryonal carcinoma9.5MYO7A, PCDH15
3continuous spike-wave during slow sleep syndrome9.4MYO7A, PCDH15
4deafness, autosomal recessive 129.4CDH23, PCDH15, USH1C
5deafness, autosomal recessive 18a9.2MYO7A, USH1C, USH1G
6porokeratosis 9, multiple types9.2MYO7A, PCDH15
7hyperimmunoglobulin syndrome9.0CDH23, MYO7A, USH1C
8autosomal recessive nonsyndromic deafness8.9CDH23, MYO7A, PCDH15
9deafness, autosomal recessive 238.8MYO7A, PCDH15, USH1C, USH1G
10pyelitis8.6CDH23, MYO7A, PCDH15, USH1C
11localized lichen myxedematosus with mixed features of different subtypes8.6CDH23, MYO7A, PCDH15, USH1C
12telogen effluvium8.5CDH23, MYO7A, PCDH15, USH1C
13pierre robin syndrome8.3CDH23, MYO7A, PCDH15, USH1C, USH1G
14deafness, autosomal recessive 28.2CDH23, MYO7A, PCDH15, USH1C, USH1G
15x-linked hypophosphatemic rickets8.2CDH23, MYO7A, PCDH15, USH1C, USH1G
16scar contracture8.1CDH23, MYO7A, PCDH15, USH1C, USH1G

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



Diseases related to usher syndrome, type 1g

Symptoms for Usher Syndrome, Type 1g

About this section

Symptoms by clinical synopsis from OMIM:

606943

Clinical features from OMIM:

606943

HPO human phenotypes related to Usher Syndrome, Type 1g:

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

Drugs & Therapeutics for Usher Syndrome, Type 1g

About this section

Interventional clinical trials:

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

Genetic Tests for Usher Syndrome, Type 1g

About this section

Genetic tests related to Usher Syndrome, Type 1g:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1g25
2 Usher Syndrome Type 1g23 USH1G

Anatomical Context for Usher Syndrome, Type 1g

About this section

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

34
Bone

Animal Models for Usher Syndrome, Type 1g or affiliated genes

About this section

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053777.9CDH23, MYO7A, PCDH15, USH1C, USH1G
2MP:00053867.5CDH23, MYO7A, PCDH15, USH1C, USH1G
3MP:00036317.4CDH23, MYO7A, PCDH15, USH1C, USH1G
4MP:00053917.2CDH23, MYO7A, PCDH15, USH1C, USH1G

Publications for Usher Syndrome, Type 1g

About this section

Articles related to Usher Syndrome, Type 1g:

idTitleAuthorsYear
1
Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans. (19270738)
2009

Variations for Usher Syndrome, Type 1g

About this section

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

68
id Symbol AA change Variation ID SNP ID
1USH1Gp.Leu48ProVAR_023739rs104894651
2USH1Gp.Asp458ValVAR_060468rs397517925

Clinvar genetic disease variations for Usher Syndrome, Type 1g:

5
id Gene Variation Type Significance SNP ID Assembly Location
1USH1GNM_173477.4(USH1G): c.143T> C (p.Leu48Pro)single nucleotide variantPathogenicrs104894651GRCh37Chr 17, 72919026: 72919026
2USH1GNM_173477.4(USH1G): c.186_187delCA (p.Ile63Leufs)deletionPathogenicrs730880268GRCh37Chr 17, 72916744: 72916745
3USH1GNM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs)deletionPathogenicrs397515345GRCh37Chr 17, 72916080: 72916099
4USH1GNM_173477.4(USH1G): c.394dupG (p.Val132Glyfs)duplicationPathogenicGRCh37Chr 17, 72916537: 72916537
5USH1GNM_173477.4(USH1G): c.113G> A (p.Trp38Ter)single nucleotide variantPathogenicrs104894652GRCh37Chr 17, 72919056: 72919056
6USH1GUSH1G, 15-BP DEL, NT163deletionPathogenic
7USH1GNM_173477.4(USH1G): c.1373A> T (p.Asp458Val)single nucleotide variantLikely pathogenicrs397517925GRCh37Chr 17, 72915558: 72915558
8PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
9PCDH15NM_033056.3(PCDH15): c.394dupG (p.Glu132Glyfs)duplicationPathogenicrs397515566GRCh37Chr 10, 56128960: 56128960

Expression for genes affiliated with Usher Syndrome, Type 1g

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

Pathways for genes affiliated with Usher Syndrome, Type 1g

About this section

GO Terms for genes affiliated with Usher Syndrome, Type 1g

About this section

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:00323919.7MYO7A, USH1G
2microvillusGO:00059029.5MYO7A, USH1C
3photoreceptor outer segmentGO:00017509.1MYO7A, PCDH15, USH1C
4photoreceptor inner segmentGO:00019178.7MYO7A, USH1C, USH1G
5synapseGO:00452028.3MYO7A, PCDH15, USH1C
6stereociliumGO:00324208.1CDH23, MYO7A, PCDH15, USH1C

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell differentiationGO:00424919.7MYO7A, PCDH15
2auditory receptor cell stereocilium organizationGO:00600889.6MYO7A, PCDH15
3inner ear receptor cell differentiationGO:00601139.6MYO7A, USH1G
4inner ear morphogenesisGO:00424729.5MYO7A, USH1G
5inner ear developmentGO:00488399.5MYO7A, PCDH15
6homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071569.4CDH23, PCDH15
7locomotory behaviorGO:00076269.3CDH23, PCDH15
8inner ear receptor stereocilium organizationGO:00601228.5CDH23, MYO7A, PCDH15, USH1G
9visual perceptionGO:00076018.4CDH23, MYO7A, PCDH15
10photoreceptor cell maintenanceGO:00454948.1CDH23, PCDH15, USH1C, USH1G
11sensory perception of light stimulusGO:00509538.0CDH23, MYO7A, PCDH15, USH1C, USH1G
12equilibrioceptionGO:00509578.0CDH23, MYO7A, PCDH15, USH1C, USH1G
13sensory perception of soundGO:00076057.8CDH23, MYO7A, PCDH15, USH1C, USH1G

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.2MYO7A, USH1C
2protein N-terminus bindingGO:00474858.8MYO7A, PCDH15
3spectrin bindingGO:00305078.7MYO7A, USH1C, USH1G

Sources for Usher Syndrome, Type 1g

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet