US1
MCID: USH002
MIFTS: 30

Usher Syndrome Type I (US1) malady

Ear diseases category

Summaries for Usher Syndrome Type I

About this section
Sources:
42NIH Rare Diseases, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. three major types of usher syndrome have been described - types i, ii, and iii.  the different types are distinguished by their severity and the age when signs and symptoms appear. all three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. last updated: 3/3/2014

MalaCards: Usher Syndrome Type I, also known as usher syndrome, type 1, is related to usher syndrome and usher syndrome, type 1b. An important gene associated with Usher Syndrome Type I is USH1H (Usher syndrome 1H (autosomal recessive)). Related mouse phenotypes are behavior/neurological and vision/eye.

GeneReviews summary for usher1

Aliases & Classifications for Usher Syndrome Type I

About this section
Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear diseases


Aliases & Descriptions:

usher syndrome type i 19
usher syndrome, type 1 42 20 22
ush1 19 42
retinitis pigmentosa and congenital deafness 42
usher syndrome, type 1a 42
usher syndrome, type i 60
ush1a 42
us1 42


Related Diseases for Usher Syndrome Type I

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Usher Syndrome Type I:



Diseases related to usher syndrome type i

Clinical Features for Usher Syndrome Type I

About this section

Drugs & Therapeutics for Usher Syndrome Type I

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Usher Syndrome Type I

Drug clinical trials:

Search ClinicalTrials for Usher Syndrome Type I

Search NIH Clinical Center for Usher Syndrome Type I

Search CenterWatch for Usher Syndrome Type I

Genetic Tests for Usher Syndrome Type I

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Usher Syndrome Type I:

id Genetic test Affiliating Genes
1 Usher Syndrome Type I20 USH1H
2 Usher Syndrome, Type 122

Anatomical Context for Usher Syndrome Type I

About this section

Animal Models for Usher Syndrome Type I or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Usher Syndrome Type I:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.8USH1G, OMP, MYO7A, CDH23, PCDH15, ACTG1
2MP:00053917.7USH1C, USH1G, USH2A, MYO7A, CDH23, PCDH15
3MP:00053777.5ACTG1, USH1C, USH1G, USH2A, MYO7A, CDH23
4MP:00036317.1USH1C, USH1G, USH2A, OMP, MYO7A, CDH23

Publications for Usher Syndrome Type I

About this section

Genetic Variations for Usher Syndrome Type I

About this section

Expression for genes affiliated with Usher Syndrome Type I

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Usher Syndrome Type I

Search GEO for disease gene expression data for Usher Syndrome Type I.

Pathways for genes affiliated with Usher Syndrome Type I

About this section

Compounds for genes affiliated with Usher Syndrome Type I

About this section

GO Terms for genes affiliated with Usher Syndrome Type I

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Usher Syndrome Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:0019179.4USH1C, CIB2, MYO7A
2synapseGO:0452029.3PCDH15, MYO7A, USH1C
3photoreceptor outer segmentGO:0017509.0PCDH15, MYO7A, USH1C
4stereociliumGO:0324208.9PCDH15, CDH23, MYO7A, USH1C

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:0424729.8USH1G, USH1C
2inner ear receptor cell differentiationGO:0601139.6USH1G, USH2A
3response to stimulusGO:0508969.1CDH23, USH2A
4visual perceptionGO:0076019.0CDH23, MYO7A, USH2A
5equilibrioceptionGO:0509578.8USH1C, USH1G, MYO7A, CDH23, PCDH15
6sensory perception of light stimulusGO:0509538.2PCDH15, CDH23, MYO7A, USH2A, USH1G, USH1C
7sensory perception of soundGO:0076058.1USH1C, USH1G, USH2A, MYO7A, CDH23, PCDH15
8photoreceptor cell maintenanceGO:0454948.0USH1C, USH1G, USH2A, CIB2, CDH23, PCDH15

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055098.3PCDH15, CDH23, EML1, CIB2
2protein bindingGO:0055157.2USH1G, USH2A, CIB2, MYO7A, EML1, CDH23

Products for genes affiliated with Usher Syndrome Type I

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Usher Syndrome Type I

About this section
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