USH1C
MCID: USH007
MIFTS: 42

Usher Syndrome, Type 1c (USH1C) 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 11 48 24 70
Usher Syndrome Type 1c 11 24 13
Usher Syndrome Type I Acadian Variety 11 70
Usher's Syndrome Type 1c 70 27
Usher Syndrome Type Ic 11 70
 
Usher Syndrome, Acadian Variety 48
Usher Syndrome, Type Ic 68
Acadian Usher Syndrome 70
Usher Syndrome 1c 70
Ush 1c 24

Characteristics:

HPO:

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

Classifications:



External Ids:

OMIM52 276904
Disease Ontology11 DOID:0110830
ICD1030 H35.5
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 usher syndrome, type 1b and deafness, autosomal recessive 18a, 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), and among its related pathways are Regulation of gap junction activity and Tight junction. Affiliated tissues include retina, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and homeostasis/metabolism.

Disease Ontology:11 An Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15.

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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Diseases in the Usher Syndrome family:

Usher Syndrome, Type 2a Usher Syndrome, Type 3a
Usher Syndrome, Type 2c Usher Syndrome Type 3b
Usher Syndrome, Type 2d Usher Syndrome, Type Ik
Usher Syndrome, Type 1d Usher Syndrome, Type 1f
usher syndrome, type 1c Usher Syndrome, Type 1b
Usher Syndrome, Type Ij Usher Syndrome, Type 1g
Usher Syndrome Type 2 Usher Syndrome Type 1h
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome, Type 1c via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1b11.5
2deafness, autosomal recessive 18a11.5
3polycystic kidney disease10.4
4usher syndrome10.3
5autoimmune retinopathy10.2LNX1, USH1C
6charcot-marie-tooth disease, type 1d10.2CDH23, MYO7A
7cardiomyopathy, dilated, 1kk10.2MYO7A, USH1C, USH1G
8autosomal dominant nonsyndromic deafness 6810.2USH1C, USH1G
9deafness, autosomal recessive 2310.1CDH23, MYO7A, USH1C
10narcissistic personality disorder10.1CDH23, MYO7A, USH1C
11obesity susceptibility, adrb3-related10.1CDH23, MYO7A, USH1C
12nosophobia10.1ABCC8, KCNJ11
13manitoba oculotrichoanal syndrome10.1CDH23, MYO7A
14noonan syndrome 310.1ABCC8, KCNJ11
15ritscher-schinzel syndrome 210.1ABCC8, KCNJ11
16mitochondrial non-syndromic sensorineural deafness10.1CDH23, MYO7A, USH1C
17sjogren-larsson syndrome10.1CDH23, MYO7A
18pierre robin syndrome10.1CDH23, MYO7A, USH1C, USH1G
19usher syndrome, type 1f10.1CDH23, MYO7A, USH1C, USH1G
2046xy sex reversal 310.1CDH23, MYO7A, USH1C, USH1G
21dyskeratosis congenita, autosomal dominant 110.1CDH23, MYO7A, USH1C, USH1G
22peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads10.1CDH23, MYO7A, USH1C, USH1G
23xeroderma pigmentosum group e10.1CDH23, MYO7A, USH1C, USH1G
24deafness, autosomal dominant 1110.1CDH23, MYO7A, USH1C, USH1G
25labyrinthine unilateral reactive loss10.0ABCC8, KCNJ11
26lissencephaly10.0CDH23, MYO7A, USH1C, USH1G, USHBP1
27hyperinsulinism9.9
28hemorrhagic fever9.9ABCC8, KCNJ11
29fanconi anemia, complementation group f8.2ABCC8, CDH23, DLG4, DOCK2, DOCK4, KCNJ11

Graphical network of the top 20 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

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-8410.1DLG4, DOCK2, KCNJ11

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.5ABCC8, CDH23, DLG4, DOCK2, KCNJ11, MYO7A

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
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. (28165476)
2017
2
Therapy strategies for Usher syndrome Type 1C in the retina. (24664766)
2014
3
PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. (21235327)
2011
4
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. (10973247)
2000
5
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
6
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 12)
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(USH1C): c.463C> T (p.Arg155Ter)SNVLikely pathogenicrs377145777GRCh38Chr 11, 17527256: 17527256
3USH1CNM_ 153676.3(USH1C): c.496+1G> ASNVPathogenicrs138138689GRCh38Chr 11, 17527222: 17527222
4USH1CNM_ 005709.3(USH1C): c.308G> A (p.Arg103His)SNVPathogenicrs397514500GRCh37Chr 11, 17552780: 17552780
5USH1CUSH1C, IVS16AS, G-T, -1SNVPathogenic
6USH1CUSH1C, 1-BP DEL, 1220GdeletionPathogenic
7USH1CUSH1C, IVS5AS, A DEL, -2deletionPathogenic
8USH1CNM_ 005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
9USH1CNM_ 005709.3(USH1C): c.216G> A (p.Val72=)SNVPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
10USH1CUSH1C, IVS1DS, G-T, +1SNVPathogenic
11USH1CUSH1C, IVS5DS, G-A, +1SNVPathogenic
12USH1CNM_ 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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Pathways related to Usher Syndrome, Type 1c according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4SRC, TJP1
28.8PPP2CA, SRC, TJP1

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
1photoreceptor inner segmentGO:000191710.5MYO7A, USH1C, USH1G
2ATP-sensitive potassium channel complexGO:000828210.4ABCC8, KCNJ11
3stereociliumGO:00324209.8CDH23, DOCK4, MYO7A, USH1C
4voltage-gated potassium channel complexGO:00080769.2ABCC8, DLG4, KCNJ11
5cytoskeletonGO:00058569.1DOCK2, MYO7A, PPP2CA, SRC, USH1C, USH1G
6plasma membraneGO:00058866.9ABCC8, CDH23, DLG4, DOCK4, KCNJ11, PPP2CA
7cytosolGO:00058296.6DLG4, DOCK2, DOCK4, KCNJ11, MYO7A, PPP2CA

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell differentiationGO:004249110.7MYO7A, USH1C
2inner ear receptor cell differentiationGO:006011310.6MYO7A, USH1G
3inner ear morphogenesisGO:004247210.4MYO7A, USH1C, USH1G
4photoreceptor cell maintenanceGO:004549410.3CDH23, USH1C, USH1G
5negative regulation of insulin secretionGO:004667610.3ABCC8, KCNJ11
6equilibrioceptionGO:005095710.0CDH23, MYO7A, USH1C, USH1G
7inner ear receptor stereocilium organizationGO:006012210.0CDH23, MYO7A, USH1C, USH1G
8sensory perception of light stimulusGO:00509539.9CDH23, MYO7A, USH1C, USH1G
9response to drugGO:00424939.1ABCC8, KCNJ11, SRC, TJP1
10sensory perception of soundGO:00076058.9CDH23, MYO7A, TJP1, USH1C, USH1G

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

idNameGO IDScoreTop Affiliating Genes
1ATP-activated inward rectifier potassium channel activityGO:001527210.4ABCC8, KCNJ11
2PDZ domain bindingGO:003016510.1DLG4, DOCK4, LNX1, USHBP1
3ion channel bindingGO:00443259.9ABCC8, KCNJ11, SRC
4spectrin bindingGO:00305079.7MYO7A, USH1C, USH1G
5protein C-terminus bindingGO:00080228.4DLG4, KCNJ11, PPP2CA, SRC, TJP1
6protein bindingGO:00055156.0CDH23, DLG4, DOCK2, DOCK4, LNX1, MYO7A

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