MCID: USH022
MIFTS: 36

Usher Syndrome, Type 1g malady

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

Aliases & Classifications for Usher Syndrome, Type 1g

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Aliases & Descriptions for Usher Syndrome, Type 1g:

Name: Usher Syndrome, Type 1g 52 12
Usher's Syndrome Type 1g 70 27
Ush1g 24 70
Usher Syndrome, Type Ig 68
 
Usher Syndrome Type Ig 70
Usher Syndrome Type 1g 24
Usher Syndrome 1g 70
Ush 1g 24

Characteristics:

HPO:

64
usher syndrome, type 1g:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 606943
MedGen37 C1847089
MeSH39 D052245

Summaries for Usher Syndrome, Type 1g

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UniProtKB/Swiss-Prot:70 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 behavior/neurological and hearing/vestibular/ear.

OMIM:52 Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive... (606943) more...

Related Diseases for Usher Syndrome, Type 1g

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



Diseases related to usher syndrome, type 1g

Symptoms & Phenotypes for Usher Syndrome, Type 1g

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Symptoms by clinical synopsis from OMIM:

606943

Clinical features from OMIM:

606943

Human phenotypes related to Usher Syndrome, Type 1g:

 64
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment64 HP:0000407
2 rod-cone dystrophy64 HP:0000510
3 vestibular dysfunction64 HP:0001751
4 hypoplasia of the nasal bone64 HP:0004646

MGI Mouse Phenotypes related to Usher Syndrome, Type 1g according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.3CDH23, MYO7A, PCDH15, USH1C, USH1G
2MP:00053778.3CDH23, MYO7A, PCDH15, USH1C, USH1G
3MP:00036318.3CDH23, MYO7A, PCDH15, USH1C, USH1G
4MP:00053917.5CDH23, MYO7A, PCDH15, USH1C, USH1G

Drugs & Therapeutics for Usher Syndrome, Type 1g

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Interventional clinical trials:

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

Genetic Tests for Usher Syndrome, Type 1g

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Genetic tests related to Usher Syndrome, Type 1g:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1g27
2 Usher Syndrome Type 1g24 USH1G

Anatomical Context for Usher Syndrome, Type 1g

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

36
Bone

Publications for Usher Syndrome, Type 1g

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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

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

70
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.1311delG (p.Lys438Argfs)deletionLikely pathogenicrs886043626GRCh37Chr 17, 72915620: 72915620
2USH1GNM_173477.4(USH1G): c.143T> C (p.Leu48Pro)SNVPathogenicrs104894651GRCh37Chr 17, 72919026: 72919026
3USH1GNM_173477.4(USH1G): c.186_187delCA (p.Ile63Leufs)deletionPathogenicrs730880268GRCh37Chr 17, 72916744: 72916745
4USH1GNM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs)deletionPathogenicrs397515345GRCh37Chr 17, 72916080: 72916099
5USH1GNM_173477.4(USH1G): c.394dupG (p.Val132Glyfs)duplicationPathogenicrs587776546GRCh37Chr 17, 72916537: 72916537
6USH1GNM_173477.4(USH1G): c.113G> A (p.Trp38Ter)SNVPathogenicrs104894652GRCh37Chr 17, 72919056: 72919056
7USH1GUSH1G, 15-BP DEL, NT163deletionPathogenicChr na, -1: -1
8USH1GNM_173477.4(USH1G): c.1373A> T (p.Asp458Val)SNVLikely pathogenicrs397517925GRCh37Chr 17, 72915558: 72915558
9PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)SNVPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
10PCDH15NM_033056.3(PCDH15): c.394dupG (p.Glu132Glyfs)duplicationPathogenicrs397515566GRCh37Chr 10, 56128960: 56128960

Expression for genes affiliated with Usher Syndrome, Type 1g

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

Pathways for genes affiliated with Usher Syndrome, Type 1g

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

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:00323919.9MYO7A, USH1G
2microvillusGO:00059029.8MYO7A, USH1C
3photoreceptor inner segmentGO:00019179.3MYO7A, USH1C, USH1G
4photoreceptor outer segmentGO:00017509.3MYO7A, PCDH15, USH1C
5stereociliumGO:00324208.6CDH23, MYO7A, PCDH15, USH1C
6synapseGO:00452028.6MYO7A, PCDH15, USH1C

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1homophilic cell adhesion via plasma membrane adhesion moleculesGO:000715610.0CDH23, PCDH15
2locomotory behaviorGO:000762610.0CDH23, PCDH15
3inner ear morphogenesisGO:00424729.9MYO7A, USH1G
4inner ear receptor cell differentiationGO:00601139.9MYO7A, USH1G
5auditory receptor cell differentiationGO:00424919.8MYO7A, PCDH15
6auditory receptor cell stereocilium organizationGO:00600889.8MYO7A, PCDH15
7inner ear developmentGO:00488399.8MYO7A, PCDH15
8photoreceptor cell maintenanceGO:00454949.0CDH23, PCDH15, USH1C, USH1G
9inner ear receptor stereocilium organizationGO:00601228.7CDH23, MYO7A, PCDH15, USH1G
10visual perceptionGO:00076018.5CDH23, MYO7A, PCDH15
11equilibrioceptionGO:00509578.2CDH23, MYO7A, PCDH15, USH1C, USH1G
12sensory perception of light stimulusGO:00509538.2CDH23, MYO7A, PCDH15, USH1C, USH1G
13sensory perception of soundGO:00076058.1CDH23, 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:00510159.7MYO7A, USH1C
2protein N-terminus bindingGO:00474859.5MYO7A, PCDH15
3spectrin bindingGO:00305078.7MYO7A, USH1C, USH1G

Sources for Usher Syndrome, Type 1g

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet