MCID: USH007
MIFTS: 36

Usher Syndrome, Type 1c malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Usher Syndrome, Type 1c

About this section

Aliases & Descriptions for Usher Syndrome, Type 1c:

Name: Usher Syndrome, Type 1c 51 47 12
Ush1c 47 24 69
Usher's Syndrome Type 1c 69 26
Usher Syndrome Type I Acadian Variety 69
Usher Syndrome, Acadian Variety 47
Usher Syndrome, Type Ic 67
 
Acadian Usher Syndrome 69
Usher Syndrome Type 1c 24
Usher Syndrome Type Ic 69
Usher Syndrome 1c 69
Ush 1c 24

Characteristics:

HPO:

63
usher syndrome, type 1c:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 276904
MedGen36 C1848604
MeSH38 D052245

Summaries for Usher Syndrome, Type 1c

About this section
OMIM:51 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with... (276904) more...

MalaCards based summary: Usher Syndrome, Type 1c, also known as ush1c, is related to deafness, autosomal recessive 18a and usher syndrome, type 1b, and has symptoms including rod-cone dystrophy, vestibular hypofunction and congenital sensorineural hearing impairment. An important gene associated with Usher Syndrome, Type 1c is USH1C (USH1 Protein Network Component Harmonin). Affiliated tissues include retina, and related mouse phenotype hearing/vestibular/ear.

NIH Rare Diseases:47 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

UniProtKB/Swiss-Prot:69 Usher syndrome 1C: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

Related Diseases for Usher Syndrome, Type 1c

About this section

Graphical network of diseases related to Usher Syndrome, Type 1c:



Diseases related to usher syndrome, type 1c

Symptoms for Usher Syndrome, Type 1c

About this section

Symptoms by clinical synopsis from OMIM:

276904

Clinical features from OMIM:

276904

Human phenotypes related to Usher Syndrome, Type 1c:

 63
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy63 HP:0000510
2 vestibular hypofunction63 HP:0001756
3 congenital sensorineural hearing impairment63 HP:0008527

Drugs & Therapeutics for Usher Syndrome, Type 1c

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Usher Syndrome, Type 1c

Genetic Tests for Usher Syndrome, Type 1c

About this section

Genetic tests related to Usher Syndrome, Type 1c:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1c26
2 Usher Syndrome Type 1c24 USH1C

Anatomical Context for Usher Syndrome, Type 1c

About this section

MalaCards organs/tissues related to Usher Syndrome, Type 1c:

35
Retina

Animal Models for Usher Syndrome, Type 1c or affiliated genes

About this section

MGI Mouse Phenotypes related to Usher Syndrome, Type 1c:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7MYO7A, USH1C, USH1G

Publications for Usher Syndrome, Type 1c

About this section

Articles related to Usher Syndrome, Type 1c:

idTitleAuthorsYear
1
Therapy strategies for Usher syndrome Type 1C in the retina. (24664766)
2014
2
PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. (21235327)
2011
3
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. (10973247)
2000
4
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. (9653658)
1998
5
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. (8828039)
1996

Variations for Usher Syndrome, Type 1c

About this section

Clinvar genetic disease variations for Usher Syndrome, Type 1c:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1USH1CNM_005709.3(USH1C): c.7C> T (p.Arg3Ter)SNVPathogenicrs876657624GRCh38Chr 11, 17544301: 17544301
2USH1CNM_153676.3: c.463C> TSNVLikely pathogenicChr na, -1: -1
3USH1CNM_153676.3: c.496+1G> ASNVPathogenicChr na, -1: -1
4USH1CNM_005709.3(USH1C): c.308G> A (p.Arg103His)SNVPathogenicrs397514500GRCh37Chr 11, 17552780: 17552780
5USH1CUSH1C, IVS16AS, G-T, -1SNVPathogenicChr na, -1: -1
6USH1CUSH1C, 1-BP DEL, 1220GdeletionPathogenicChr na, -1: -1
7USH1CUSH1C, IVS5AS, A DEL, -2deletionPathogenicChr na, -1: -1
8USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
9USH1CNM_005709.3(USH1C): c.496+59_496+103[9]NT expansionPathogenicrs387906330GRCh37Chr 11, 17548667: 17548711
10USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)SNVPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
11USH1CUSH1C, IVS1DS, G-T, +1SNVPathogenicChr na, -1: -1
12USH1CUSH1C, IVS5DS, G-A, +1SNVPathogenicChr na, -1: -1
13USH1CNM_005709.3(USH1C): c.91C> T (p.Arg31Ter)SNVPathogenicrs121908370GRCh37Chr 11, 17554815: 17554815

Expression for genes affiliated with Usher Syndrome, Type 1c

About this section
Search GEO for disease gene expression data for Usher Syndrome, Type 1c.

Pathways for genes affiliated with Usher Syndrome, Type 1c

About this section

GO Terms for genes affiliated with Usher Syndrome, Type 1c

About this section

Cellular components related to Usher Syndrome, Type 1c according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00017509.7MYO7A, USH1C
2photoreceptor connecting ciliumGO:00323919.6MYO7A, USH1G
3microvillusGO:00059029.6MYO7A, USH1C
4stereociliumGO:00324209.3MYO7A, USH1C
5synapseGO:00452029.2MYO7A, USH1C
6photoreceptor inner segmentGO:00019178.4MYO7A, USH1C, USH1G

Biological processes related to Usher Syndrome, Type 1c according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:00454949.5USH1C, USH1G
2inner ear receptor stereocilium organizationGO:00601229.4MYO7A, USH1G
3inner ear receptor cell differentiationGO:00601139.3MYO7A, USH1G
4inner ear morphogenesisGO:00424729.1MYO7A, USH1G
5sensory perception of light stimulusGO:00509539.0MYO7A, USH1C, USH1G
6equilibrioceptionGO:00509579.0MYO7A, USH1C, USH1G
7sensory perception of soundGO:00076058.4MYO7A, USH1C, USH1G

Molecular functions related to Usher Syndrome, Type 1c according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.3MYO7A, USH1C
2PDZ domain bindingGO:00301659.3LNX1, USHBP1
3spectrin bindingGO:00305078.6MYO7A, USH1C, USH1G

Sources for Usher Syndrome, Type 1c

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet