USH1
MCID: USH015
MIFTS: 47

Usher Syndrome Type 1g (USH1) malady

Eye diseases, Ear diseases, Fetal diseases categories

Summaries for Usher Syndrome Type 1g

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46OMIM, 32MalaCards
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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 hypermetropia, cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia and psychosis/schizophrenia/maniac disorder. 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:46 602097, 606943, 612632, 614869, 614990 276900, 276904, 601067, 602083 more

Aliases & Classifications for Usher Syndrome Type 1g

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
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 48 46
usher syndrome, type 1g 46
usher syndrome, type ig 60
usher syndrome, type i 60
ush1 48


External Ids:

ICD10 via Orphanet26 H35.5
SNOMED-CT via Orphanet57 232057003
UMLS via Orphanet61 C0339533

Related Diseases for Usher Syndrome Type 1g

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Usher Syndrome Type 1g:



Diseases related to usher syndrome type 1g

Clinical Features for Usher Syndrome Type 1g

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

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

Clinical synopsis from OMIM:

602097

Symptoms:

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

Drugs & Therapeutics for Usher Syndrome Type 1g

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Usher Syndrome Type 1g

Drug clinical trials:

Search ClinicalTrials for Usher Syndrome Type 1g

Search NIH Clinical Center for Usher Syndrome Type 1g

Search CenterWatch for Usher Syndrome Type 1g

Genetic Tests for Usher Syndrome Type 1g

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Sources:
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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Sources:
32MalaCards
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MalaCards organs/tissues related to Usher Syndrome Type 1g:

32
Cerebellum, Eye

Animal Models for Usher Syndrome Type 1g or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Usher Syndrome Type 1g:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.3CDH23, MYO7A, USH1C
2MP:00053778.6PCDH15, CDH23, MYO7A, USH1G, USH1C
3MP:00053918.6USH1C, USH1G, MYO7A, CDH23, PCDH15
4MP:00053868.5USH1C, USH1G, MYO7A, CDH23, PCDH15
5MP:00036318.3USH1C, USH1G, MYO7A, CDH23, PCDH15

Publications for Usher Syndrome Type 1g

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Genetic Variations for Usher Syndrome Type 1g

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Usher Syndrome Type 1g:

62
id Symbol AA change Variation ID SNP ID
1USH1Gp.Leu48ProVAR_023739
2USH1Gp.Asp458ValVAR_060468

Expression for genes affiliated with Usher Syndrome Type 1g

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Sources:
1BioGPS, 15Gene 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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Sources:
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:0019179.1USH1C, CIB2, MYO7A
3photoreceptor outer segmentGO:0017509.0PCDH15, MYO7A, USH1C
4stereociliumGO:0324208.9PCDH15, CDH23, MYO7A, USH1C

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

idNameGO IDScoreTop Affiliating Genes
1homophilic cell adhesionGO:0071569.6PCDH15, CDH23
2inner ear morphogenesisGO:0424729.5USH1G, USH1C
3equilibrioceptionGO:0509578.7PCDH15, CDH23, MYO7A, USH1G, USH1C
4sensory perception of light stimulusGO:0509538.6USH1C, USH1G, MYO7A, CDH23, PCDH15
5sensory perception of soundGO:0076058.5USH1C, USH1G, MYO7A, CDH23, PCDH15
6photoreceptor cell maintenanceGO:0454948.4USH1C, USH1G, CIB2, CDH23, PCDH15

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055099.1PCDH15, CDH23, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet