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

Aliases & Descriptions for Usher Syndrome, Type 1c:

Name: Usher Syndrome, Type 1c 54 50 13
Ush1c 12 50 24 66
Usher Syndrome Type 1c 12 24 14
Usher Syndrome Type I Acadian Variety 12 66
Usher's Syndrome Type 1c 66 29
Usher Syndrome Type Ic 12 66
Usher Syndrome, Acadian Variety 50
Usher Syndrome, Type Ic 69
Acadian Usher Syndrome 66
Usher Syndrome 1c 66
Ush 1c 24

Characteristics:

HPO:

32
usher syndrome, type 1c:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 276904
Disease Ontology 12 DOID:0110830
ICD10 33 H35.5
MedGen 40 C1848604
MeSH 42 D052245

Summaries for Usher Syndrome, Type 1c

OMIM : 54 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 congenital sensorineural hearing impairment, rod-cone dystrophy and vestibular hypofunction. An important gene associated with Usher Syndrome, Type 1c is USH1C (USH1 Protein Network Component Harmonin), and among its related pathways/superpathways are Tight junction and Regulation of gap junction activity. Affiliated tissues include retina, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and homeostasis/metabolism

Disease Ontology : 12 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 : 66 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

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)
id Related Disease Score Top Affiliating Genes
1 usher syndrome, type 1b 11.5
2 deafness, autosomal recessive 18a 11.5
3 polycystic kidney disease 10.4
4 usher syndrome 10.3
5 autoimmune retinopathy 10.2 LNX1 USH1C
6 charcot-marie-tooth disease, type 1d 10.2 CDH23 MYO7A
7 cardiomyopathy, dilated, 1kk 10.2 MYO7A USH1C USH1G
8 autosomal dominant nonsyndromic deafness 68 10.2 USH1C USH1G
9 deafness, autosomal recessive 23 10.1 CDH23 MYO7A USH1C
10 narcissistic personality disorder 10.1 CDH23 MYO7A USH1C
11 obesity susceptibility, adrb3-related 10.1 CDH23 MYO7A USH1C
12 nosophobia 10.1 ABCC8 KCNJ11
13 manitoba oculotrichoanal syndrome 10.1 CDH23 MYO7A
14 noonan syndrome 3 10.1 ABCC8 KCNJ11
15 ritscher-schinzel syndrome 2 10.1 ABCC8 KCNJ11
16 mitochondrial non-syndromic sensorineural deafness 10.1 CDH23 MYO7A USH1C
17 sjogren-larsson syndrome 10.1 CDH23 MYO7A
18 pierre robin syndrome 10.1 CDH23 MYO7A USH1C USH1G
19 usher syndrome, type 1f 10.1 CDH23 MYO7A USH1C USH1G
20 46xy sex reversal 3 10.1 CDH23 MYO7A USH1C USH1G
21 dyskeratosis congenita, autosomal dominant 1 10.1 CDH23 MYO7A USH1C USH1G
22 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 10.1 CDH23 MYO7A USH1C USH1G
23 xeroderma pigmentosum group e 10.1 CDH23 MYO7A USH1C USH1G
24 deafness, autosomal dominant 11 10.1 CDH23 MYO7A USH1C USH1G
25 labyrinthine unilateral reactive loss 10.0 ABCC8 KCNJ11
26 lissencephaly 10.0 CDH23 MYO7A USH1C USH1G USHBP1
27 hyperinsulinism 9.9
28 hemorrhagic fever 9.9 ABCC8 KCNJ11
29 fanconi anemia, complementation group f 8.2 ABCC8 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

Symptoms by clinical synopsis from OMIM:

276904

Clinical features from OMIM:

276904

Human phenotypes related to Usher Syndrome, Type 1c:

32
id Description HPO Frequency HPO Source Accession
1 congenital sensorineural hearing impairment 32 HP:0008527
2 rod-cone dystrophy 32 HP:0000510
3 vestibular hypofunction 32 HP:0001756

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.53 DOCK2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.53 DOCK2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.53 DOCK2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.53 KCNJ11 DLG4 DOCK2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.53 DOCK2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.53 KCNJ11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.53 KCNJ11
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.53 KCNJ11
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.53 DOCK2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.53 DOCK2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.53 DLG4 KCNJ11
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.53 KCNJ11
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.53 DOCK2

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.32 ABCC8 CDH23 DLG4 DOCK2 KCNJ11 MYO7A

Drugs & Therapeutics for Usher Syndrome, Type 1c

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

Genetic Tests for Usher Syndrome, Type 1c

Genetic tests related to Usher Syndrome, Type 1c:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1c 29
2 Usher Syndrome Type 1c 24 USH1C

Anatomical Context for Usher Syndrome, Type 1c

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

39
Retina

Publications for Usher Syndrome, Type 1c

Articles related to Usher Syndrome, Type 1c:

id Title Authors Year
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

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

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 USH1C USH1C, IVS5AS, A DEL, -2 deletion Pathogenic
2 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh37 Chromosome 11, 17552956: 17552956
3 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic rs151045328 GRCh37 Chromosome 11, 17552978: 17552978
4 USH1C USH1C, IVS1DS, G-T, +1 single nucleotide variant Pathogenic
5 USH1C USH1C, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
6 USH1C NM_005709.3(USH1C): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs121908370 GRCh37 Chromosome 11, 17554815: 17554815
7 USH1C NM_005709.3(USH1C): c.308G> A (p.Arg103His) single nucleotide variant Pathogenic rs397514500 GRCh37 Chromosome 11, 17552780: 17552780
8 USH1C USH1C, IVS16AS, G-T, -1 single nucleotide variant Pathogenic
9 USH1C USH1C, 1-BP DEL, 1220G deletion Pathogenic
10 USH1C NM_005709.3(USH1C): c.7C> T (p.Arg3Ter) single nucleotide variant Pathogenic rs876657624 GRCh38 Chromosome 11, 17544301: 17544301
11 USH1C NM_153676.3(USH1C): c.496+1G> A single nucleotide variant Pathogenic rs138138689 GRCh38 Chromosome 11, 17527222: 17527222
12 USH1C NM_153676.3(USH1C): c.463C> T (p.Arg155Ter) single nucleotide variant Likely pathogenic rs377145777 GRCh38 Chromosome 11, 17527256: 17527256

Expression for Usher Syndrome, Type 1c

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

Pathways for Usher Syndrome, Type 1c

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

id Super pathways Score Top Affiliating Genes
1 11.36 PPP2CA SRC TJP1
2
Show member pathways
9.4 SRC TJP1

GO Terms for Usher Syndrome, Type 1c

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

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 DOCK2 MYO7A PPP2CA SRC USH1C USH1G
2 voltage-gated potassium channel complex GO:0008076 9.5 ABCC8 DLG4 KCNJ11
3 ATP-sensitive potassium channel complex GO:0008282 9.16 ABCC8 KCNJ11
4 photoreceptor inner segment GO:0001917 9.13 MYO7A USH1C USH1G
5 stereocilium GO:0032420 8.92 CDH23 DOCK4 MYO7A USH1C
6 plasma membrane GO:0005886 10.1 ABCC8 CDH23 DLG4 DOCK4 KCNJ11 PPP2CA
7 cytosol GO:0005829 10 DLG4 DOCK2 DOCK4 KCNJ11 MYO7A PPP2CA

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

id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.76 ABCC8 KCNJ11 SRC TJP1
2 sensory perception of sound GO:0007605 9.65 CDH23 MYO7A TJP1 USH1C USH1G
3 inner ear morphogenesis GO:0042472 9.54 MYO7A USH1C USH1G
4 photoreceptor cell maintenance GO:0045494 9.5 CDH23 USH1C USH1G
5 negative regulation of insulin secretion GO:0046676 9.48 ABCC8 KCNJ11
6 inner ear receptor stereocilium organization GO:0060122 9.46 CDH23 MYO7A USH1C USH1G
7 auditory receptor cell differentiation GO:0042491 9.43 MYO7A USH1C
8 inner ear receptor cell differentiation GO:0060113 9.4 MYO7A USH1G
9 sensory perception of light stimulus GO:0050953 9.26 CDH23 MYO7A USH1C USH1G
10 equilibrioception GO:0050957 8.92 CDH23 MYO7A USH1C USH1G

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

id Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.5 ABCC8 KCNJ11 SRC
2 spectrin binding GO:0030507 9.33 MYO7A USH1C USH1G
3 ATP-activated inward rectifier potassium channel activity GO:0015272 9.26 ABCC8 KCNJ11
4 PDZ domain binding GO:0030165 9.26 DLG4 DOCK4 LNX1 USHBP1
5 protein C-terminus binding GO:0008022 9.02 DLG4 KCNJ11 PPP2CA SRC TJP1
6 protein binding GO:0005515 10.18 CDH23 DLG4 DOCK2 DOCK4 LNX1 MYO7A

Sources for Usher Syndrome, Type 1c

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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