MCID: USH015
MIFTS: 36

Usher Syndrome Type 1g malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases categories
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Summaries for Usher Syndrome Type 1g

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MalaCards based summary: Usher Syndrome Type 1g, also known as usher syndrome, type 1g, is related to usher syndrome and dfnb1, and has symptoms including An important gene associated with Usher Syndrome Type 1g is USH1G (Usher syndrome 1G (autosomal recessive)). Related mouse phenotypes are adipose tissue and reproductive system.

Description from OMIM:46 606943

Aliases & Classifications for Usher Syndrome Type 1g

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Usher Syndrome Type 1g, Aliases & Descriptions:

Name: Usher Syndrome Type 1g 20 22
 
Usher Syndrome, Type 1g 46


Classifications:



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 for Usher Syndrome Type 1g

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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 autosomal recessive inheritance HP:0000007
2 sensorineural hearing impairment HP:0000407
3 retinitis pigmentosa HP:0000510
4 vestibular dysfunction HP:0001751
5 hypoplasia of the nasal bone HP:0004646

Drugs & Therapeutics for Usher Syndrome Type 1g

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Drug clinical trials:

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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 1g20 USH1G
2 Usher Syndrome, Type 1g22

Anatomical Context for Usher Syndrome Type 1g

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Animal Models for Usher Syndrome Type 1g or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome Type 1g:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5CDH23, MYO7A, USH1C
2MP:00053898.5CDH23, MYO7A, USH1C
3MP:00107718.2CDH23, MYO7A, USH1C
4MP:00053787.9USH1C, MYO7A, PCDH15, CDH23
5MP:00053777.7CDH23, PCDH15, MYO7A, USH1G, USH1C
6MP:00053917.7USH1C, USH1G, MYO7A, PCDH15, CDH23
7MP:00053867.6CDH23, PCDH15, MYO7A, USH1G, USH1C
8MP:00036317.6USH1C, USH1G, MYO7A, PCDH15, CDH23

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:

64
id Symbol AA change Variation ID SNP ID
1USH1Gp.Leu48ProVAR_023739
2USH1Gp.Asp458ValVAR_060468

Clinvar genetic disease variations for Usher Syndrome Type 1g:

6
id Gene Name Type Significance SNP ID Assembly Location
1USH1GNM_173477.4(USH1G): c.143T> C (p.Leu48Pro)single nucleotide variantPathogenicrs104894651GRCh37Chr 17, 72919026: 72919026
2USH1GUSH1G, 2-BP DEL, 186CAdeletionPathogenic
3USH1GNM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs)deletionPathogenicrs397515345GRCh37Chr 17, 72916080: 72916099
4USH1GUSH1G, 1-BP INS, 393GinsertionPathogenic
5USH1GNM_173477.4(USH1G): c.113G> A (p.Trp38Ter)single nucleotide variantPathogenicrs104894652GRCh37Chr 17, 72919056: 72919056
6USH1GUSH1G, 15-BP DEL, NT163deletionPathogenic
7PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
8PCDH15NM_033056.3(PCDH15): c.394dupG (p.Glu132Glyfs)duplicationPathogenicrs397515566GRCh37Chr 10, 56128960: 56128960

Expression for genes affiliated with Usher Syndrome Type 1g

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Expression patterns in normal tissues for genes affiliated with Usher Syndrome Type 1g

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Pathways for genes affiliated with Usher Syndrome Type 1g

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Compounds 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:0019178.7MYO7A, USH1C
2photoreceptor outer segmentGO:0017508.5PCDH15, MYO7A, USH1C
3synapseGO:0452028.4USH1C, MYO7A, PCDH15
4plasma membraneGO:0058868.4CDH23, PCDH15, USH1G, USH1C
5stereociliumGO:0324208.1CDH23, PCDH15, MYO7A, USH1C

Biological processes related to Usher Syndrome Type 1g according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:0424729.3USH1C, USH1G
2homophilic cell adhesionGO:0071569.1CDH23, PCDH15
3visual perceptionGO:0076019.1CDH23, MYO7A
4photoreceptor cell maintenanceGO:0454948.4CDH23, PCDH15, USH1G, USH1C
5sensory perception of light stimulusGO:0509537.7CDH23, USH1C, USH1G, MYO7A, PCDH15
6equilibrioceptionGO:0509577.6USH1C, USH1G, MYO7A, PCDH15, CDH23
7sensory perception of soundGO:0076057.6USH1C, USH1G, MYO7A, PCDH15, CDH23

Products for genes affiliated with Usher Syndrome Type 1g

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Sources for Usher Syndrome Type 1g

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet