USH1
MCID: USH015
MIFTS: 49

Usher Syndrome Type 1g (USH1) malady

Genetic diseases, Eye diseases, Ear diseases, Fetal diseases, Rare diseases categories

Summaries for Usher Syndrome Type 1g

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48OMIM, 34MalaCards
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MalaCards: Usher Syndrome Type 1g, also known as usher syndrome type 1, is related to usher syndrome type i and usher syndrome, and has symptoms including abnormal erg/electroretinogram/electroretinography, abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim and structural anomalies of inner ear/cochlea/vestible/semicircular canals. An important gene associated with Usher Syndrome Type 1g is USH1G (Usher syndrome 1G (autosomal recessive)). Affiliated tissues include cerebellum and eye, and related mouse phenotypes are adipose tissue and hearing/vestibular/ear.

Description from OMIM:48 602097, 606943, 612632, 614869, 614990 276900, 276904, 601067, 602083 more

Aliases & Classifications for Usher Syndrome Type 1g

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50Orphanet, 21GeneTests, 23GTR, 48OMIM, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
usher syndrome type 1:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

usher syndrome type 1g 21 23
usher syndrome type 1 50 48
usher syndrome, type 1g 48
usher syndrome, type ig 63
usher syndrome, type i 63
ush1 50


External Ids:

ICD10 via Orphanet27 H35.5
SNOMED-CT via Orphanet60 232057003
UMLS via Orphanet64 C0339533

Related Diseases for Usher Syndrome Type 1g

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

602097

Clinical features from OMIM:

602097,606943,612632,614869,614990,276900,276904,601067,602083

Symptoms:

50 (show all 18)
  • abnormal erg/electroretinogram/electroretinography
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • night blindness/hemeralopia
  • psychosis/schizophrenia/maniac disorder
  • enamel anomaly
  • hypermetropia
  • visual loss/blindness/amblyopia
  • sensorineural deafness/hearing loss
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ataxia/incoordination/trouble of the equilibrium
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • cataract/lens opacification
  • delirium/hallucination
  • retinitis pigmentosa/retinal pigmentary changes
  • autosomal recessive inheritance

Drugs & Therapeutics for Usher Syndrome Type 1g

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Usher Syndrome Type 1g

Genetic Tests for Usher Syndrome Type 1g

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21GeneTests, 23GTR
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Genetic tests related to Usher Syndrome Type 1g:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 1g21 USH1G
2 Usher Syndrome, Type 1g23

Anatomical Context for Usher Syndrome Type 1g

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34MalaCards
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MalaCards organs/tissues related to Usher Syndrome Type 1g:

34
Cerebellum, Eye

Animal Models for Usher Syndrome Type 1g or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Usher Syndrome Type 1g:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.3USH1C, MYO7A, CDH23
2MP:00053778.6PCDH15, USH1C, USH1G, MYO7A, CDH23
3MP:00053918.6CDH23, USH1C, USH1G, MYO7A, PCDH15
4MP:00053868.5USH1C, USH1G, MYO7A, PCDH15, CDH23
5MP:00036318.3USH1G, MYO7A, PCDH15, CDH23, USH1C

Publications for Usher Syndrome Type 1g

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53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome Type 1g:

65
id Symbol AA change Variation ID SNP ID
1USH1Gp.Leu48ProVAR_023739
2USH1Gp.Asp458ValVAR_060468

Clinvar genetic disease variations for Usher Syndrome Type 1g:

1
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Usher Syndrome Type 1g

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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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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17Gene Ontology
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Cellular components related to Usher Syndrome Type 1g according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synapseGO:0452029.3PCDH15, MYO7A, USH1C
2photoreceptor inner segmentGO:0019179.1MYO7A, CIB2, USH1C
3photoreceptor outer segmentGO:0017509.0PCDH15, USH1C, MYO7A
4stereociliumGO:0324208.9CDH23, USH1C, MYO7A, PCDH15

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:0424729.7USH1G, USH1C
2visual perceptionGO:0076019.7MYO7A, CDH23
3homophilic cell adhesionGO:0071569.3PCDH15, CDH23
4equilibrioceptionGO:0509578.7USH1C, CDH23, PCDH15, MYO7A, USH1G
5sensory perception of light stimulusGO:0509538.7CDH23, PCDH15, MYO7A, USH1G, USH1C
6sensory perception of soundGO:0076058.6CDH23, PCDH15, MYO7A, USH1G, USH1C
7photoreceptor cell maintenanceGO:0454948.5USH1C, USH1G, CIB2, PCDH15, CDH23

Molecular functions related to Usher Syndrome Type 1g according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055099.1CDH23, PCDH15, CIB2

Products for genes affiliated with Usher Syndrome Type 1g

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Usher Syndrome Type 1g

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet