US1
MCID: USH002
MIFTS: 46

Usher Syndrome Type I (US1) malady

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

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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 based summary: Usher Syndrome Type I, also known as usher syndrome, type 1e, 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)), and among its related pathways is Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include bone, and related mouse phenotypes are vision/eye and hearing/vestibular/ear.

GeneReviews summary for usher1

Aliases & Classifications for Usher Syndrome Type I

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Usher Syndrome Type I, Aliases & Descriptions:

Name: Usher Syndrome Type I 19
Usher Syndrome, Type 1e 42 20 22 46
Ush1 19 42
Retinitis Pigmentosa and Congenital Deafness 42
Usher Syndrome, Type I, French Variety 42
Usher Syndrome, Type 1a 42
Usher Syndrome, Type Ie 62
 
Usher Syndrome, Type 1 42
Usher Syndrome, Type I 62
Usher Syndrome Type 1 62
Ush1a 42
Ush1e 42
Us1 42


Classifications:



Related Diseases for Usher Syndrome Type I

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Graphical network of the top 20 diseases related to Usher Syndrome Type I:



Diseases related to usher syndrome type i

Symptoms for Usher Syndrome Type I

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Drugs & Therapeutics for Usher Syndrome Type I

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Drug clinical trials:

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Search NIH Clinical Center for Usher Syndrome Type I

Genetic Tests for Usher Syndrome Type I

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Genetic tests related to Usher Syndrome Type I:

id Genetic test Affiliating Genes
1 Usher Syndrome Type I20 USH1H
2 Usher Syndrome Type 1e20
3 Usher Syndrome, Type 122

Anatomical Context for Usher Syndrome Type I

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MalaCards organs/tissues related to Usher Syndrome Type I:

32
Bone

Animal Models for Usher Syndrome Type I or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome Type I:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.4CDH23, PCDH15, MYO7A, USH1G, USH1C
2MP:00053778.4USH1C, USH1G, MYO7A, ACTG1, PCDH15, CDH23
3MP:00053788.3USH1C, CDH23, PCDH15, ACTG1, MYO7A, OMP
4MP:00053868.0OMP, MYO7A, CDH23, PCDH15, USH1G, USH1C
5MP:00036317.9CDH23, PCDH15, ACTG1, MYO7A, OMP, USH1G

Publications for Usher Syndrome Type I

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Articles related to Usher Syndrome Type I:

(show all 30)
idTitleAuthorsYear
1
The giant spectrin I^V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. (23704327)
2013
2
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. (22690115)
2012
3
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. (22815625)
2012
4
Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids. (20639393)
2010
5
Long-term ophthalmic health care in Usher syndrome type I from an ICF perspective. (19280439)
2009
6
"Minimized rotational vestibular testing" as a screening procedure detecting vestibular areflexy in deaf children: screening cochlear implant candidates for Usher syndrome type I. (18058117)
2008
7
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. (18429043)
2008
8
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. (17361009)
2007
9
Photodynamic treatment of a secondary vasoproliferative tumour associated with sector retinitis pigmentosa and Usher syndrome type I. (17362466)
2007
10
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. (16470552)
2006
11
Quality of life and cochlear implantation in Usher syndrome type I. (16652078)
2006
12
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (15660226)
2005
13
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. (12588794)
2003
14
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. (12112664)
2002
15
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. (11941484)
2002
16
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (10930322)
2000
17
Histopathologic features of the temporal bone in usher syndrome type I. (10922238)
2000
18
The cochlear nuclei in two patients with Usher syndrome type I. (10595664)
1999
19
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. (10094549)
1999
20
Linkage analysis in Usher syndrome type I (USH1) families from Spain. (9610802)
1998
21
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. (9002666)
1997
22
Evidence for a fourth locus in Usher syndrome type I. (8825055)
1996
23
Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. (8128966)
1994
24
Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. (8474110)
1993
25
Usher Syndrome Type I (20301442)
1993
26
Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I. (8499899)
1993
27
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. (1478676)
1992
28
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. (1478677)
1992
29
Localization of two genes for Usher syndrome type I to chromosome 11. (1478678)
1992
30
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity. (1978628)
1990

Variations for Usher Syndrome Type I

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Expression for genes affiliated with Usher Syndrome Type I

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

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Pathways for genes affiliated with Usher Syndrome Type I

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Pathways related to Usher Syndrome Type I according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2ACTG1, MYO7A, SPTBN5

Compounds for genes affiliated with Usher Syndrome Type I

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GO Terms for genes affiliated with Usher Syndrome Type I

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:0019179.4USH1C, CIB2, MYO7A
2synapseGO:0452029.4PCDH15, MYO7A, USH1C
3photoreceptor outer segmentGO:0017509.1PCDH15, MYO7A, USH1C
4stereociliumGO:0324209.0CDH23, PCDH15, MYO7A, USH1C

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

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:0424729.9USH1G, USH1C
2equilibrioceptionGO:0509578.8CDH23, PCDH15, MYO7A, USH1G, USH1C
3sensory perception of light stimulusGO:0509538.7USH1C, USH1G, MYO7A, PCDH15, CDH23
4photoreceptor cell maintenanceGO:0454948.6USH1C, USH1G, CIB2, PCDH15, CDH23
5sensory perception of soundGO:0076058.4CDH23, PCDH15, MYO7A, USH1G, USH1C

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055098.5CDH23, PCDH15, CIB2, EML1

Products for genes affiliated with Usher Syndrome Type I

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Sources for Usher Syndrome Type I

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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