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

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Aliases & Descriptions for Usher Syndrome, Type 1c:

Name: Usher Syndrome, Type 1c 52 48 12
Ush1c 48 24 70
Usher's Syndrome Type 1c 70 27
Usher Syndrome Type I Acadian Variety 70
Usher Syndrome, Acadian Variety 48
Usher Syndrome, Type Ic 68
 
Acadian Usher Syndrome 70
Usher Syndrome Type 1c 24
Usher Syndrome Type Ic 70
Usher Syndrome 1c 70
Ush 1c 24

Characteristics:

HPO:

64
usher syndrome, type 1c:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 276904
MedGen37 C1848604
MeSH39 D052245

Summaries for Usher Syndrome, Type 1c

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OMIM:52 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:48 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:70 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

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



Diseases related to usher syndrome, type 1c

Symptoms & Phenotypes for Usher Syndrome, Type 1c

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Symptoms by clinical synopsis from OMIM:

276904

Clinical features from OMIM:

276904

Human phenotypes related to Usher Syndrome, Type 1c:

 64
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy64 HP:0000510
2 vestibular hypofunction64 HP:0001756
3 congenital sensorineural hearing impairment64 HP:0008527

MGI Mouse Phenotypes related to Usher Syndrome, Type 1c according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7MYO7A, USH1C, USH1G

Drugs & Therapeutics for Usher Syndrome, Type 1c

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Interventional clinical trials:

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

Genetic Tests for Usher Syndrome, Type 1c

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Genetic tests related to Usher Syndrome, Type 1c:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1c27
2 Usher Syndrome Type 1c24 USH1C

Anatomical Context for Usher Syndrome, Type 1c

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

36
Retina

Publications for Usher Syndrome, Type 1c

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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

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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

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

Pathways for genes affiliated with Usher Syndrome, Type 1c

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

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

idNameGO IDScoreTop Affiliating Genes
1microvillusGO:00059029.9MYO7A, USH1C
2photoreceptor outer segmentGO:00017509.9MYO7A, USH1C
3stereociliumGO:00324209.8MYO7A, USH1C
4photoreceptor connecting ciliumGO:00323919.8MYO7A, USH1G
5photoreceptor inner segmentGO:00019179.3MYO7A, USH1C, USH1G
6synapseGO:00452029.2MYO7A, USH1C

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:004549410.1USH1C, USH1G
2inner ear morphogenesisGO:00424729.7MYO7A, USH1G
3inner ear receptor cell differentiationGO:00601139.7MYO7A, USH1G
4inner ear receptor stereocilium organizationGO:00601229.7MYO7A, USH1G
5equilibrioceptionGO:00509579.3MYO7A, USH1C, USH1G
6sensory perception of light stimulusGO:00509539.2MYO7A, USH1C, USH1G
7sensory perception of soundGO:00076058.7MYO7A, USH1C, USH1G

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.7MYO7A, USH1C
2PDZ domain bindingGO:00301659.7LNX1, USHBP1
3spectrin bindingGO:00305078.7MYO7A, USH1C, USH1G

Sources for Usher Syndrome, Type 1c

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet