USH1
MCID: USH015
MIFTS: 49

Usher Syndrome Type 1g (USH1) malady

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

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47OMIM, 33MalaCards
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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:47 602097, 606943, 612632, 614869, 614990 276900, 276904, 601067, 602083 more

Aliases & Classifications for Usher Syndrome Type 1g

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49Orphanet, 20GeneTests, 22GTR, 47OMIM, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
usher syndrome type 1:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

usher syndrome type 1g 20 22
usher syndrome type 1 49 47
usher syndrome, type 1g 47
usher syndrome, type ig 62
usher syndrome, type i 62
ush1 49


External Ids:

ICD10 via Orphanet26 H35.5
SNOMED-CT via Orphanet59 232057003
UMLS via Orphanet63 C0339533

Related Diseases for Usher Syndrome Type 1g

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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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:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Usher Syndrome Type 1g

Search NIH Clinical Center for Usher Syndrome Type 1g

Genetic Tests for Usher Syndrome Type 1g

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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Usher Syndrome Type 1g:

33
Cerebellum, Eye

Animal Models for Usher Syndrome Type 1g or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Usher Syndrome Type 1g:

37
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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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

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, 15Gene Expression Omnibus DataSets
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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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16Gene 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
  • Lysates
  • Antibodies

Sources for Usher Syndrome Type 1g

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet