MCID: USH007
MIFTS: 41

Usher Syndrome, Type 1c

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

Aliases & Classifications for Usher Syndrome, Type 1c

MalaCards integrated aliases for Usher Syndrome, Type 1c:

Name: Usher Syndrome, Type 1c 54 50 29 13
Ush1c 12 50 24 71
Usher Syndrome Type 1c 12 24 14
Usher Syndrome Type I Acadian Variety 12 71
Usher Syndrome Type Ic 12 71
Usher Syndrome, Acadian Variety 50
Usher's Syndrome Type 1c 71
Usher Syndrome, Type Ic 69
Acadian Usher Syndrome 71
Usher Syndrome 1c 71
Ush 1c 24

Characteristics:

OMIM:

54
Miscellaneous:
later onset of hearing loss in some patients
first described in acadian population of louisiana
allelic to deafness, neurosensory, autosomal recessive 18

Inheritance:
autosomal recessive


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 unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (276900). (276904)

MalaCards based summary : Usher Syndrome, Type 1c, also known as ush1c, is related to deafness, autosomal recessive 18a and autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency, 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 phenotypes are Decreased shRNA abundance (Z-score < -2) and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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.

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.

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 33)
id Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 18a 25.4 ABCC8 CDH23 DLG4 DOCK2 DOCK4 KCNJ11
2 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 10.6 LNX1 USH1C
3 hyperphenylalaninemia, mild, non-bh4-deficient 10.5 CDH23 MYO7A
4 autosomal dominant nonsyndromic deafness 69 10.4 USH1C USH1G
5 deafness, autosomal recessive 23 10.4 MYO7A USH1C USH1G
6 bifid nose with or without anorectal and renal anomalies 10.4 CDH23 MYO7A
7 polycystic kidney disease 10.4
8 ectodermal dysplasia 6, hair/nail type 10.4 CDH23 MYO7A
9 usher syndrome 10.3
10 pituitary adenoma 10.3 CDH23 MYO7A USH1C
11 discrete papular lichen myxedematosus 10.3 CDH23 MYO7A USH1C
12 congenital muscular dystrophy due to lmna mutation 10.2 CDH23 MYO7A
13 writing disorder 10.2 ABCC8 KCNJ11
14 diabetes mellitus, transient neonatal, 3 10.2 ABCC8 KCNJ11
15 atrial fibrillation, familial, 12 10.2 ABCC8 KCNJ11
16 labyrinthine unilateral reactive loss 10.2 ABCC8 KCNJ11
17 hemoglobin zurich 10.1 ABCC8 KCNJ11
18 noonan syndrome 2 10.1 ABCC8 KCNJ11
19 autosomal recessive nonsyndromic deafness 8 10.1 CDH23 MYO7A
20 acute insulin response 10.1 ABCC8 KCNJ11
21 amelogenesis imperfecta, type ig 10.1 CDH23 MYO7A USH1C USH1G
22 deafness, autosomal recessive 12 10.1 CDH23 MYO7A USH1C USH1G
23 asthma-related traits 8 10.1 CDH23 MYO7A USH1C USH1G
24 retinitis pigmentosa 61 10.1 CDH23 MYO7A USH1C USH1G
25 trichohepatoenteric syndrome 1 10.1 CDH23 MYO7A USH1C USH1G
26 usher syndrome type 1h 10.0 CDH23 MYO7A USH1C USH1G
27 deafness, autosomal recessive 2 10.0 CDH23 MYO7A USH1C USH1G
28 autosomal recessive nonsyndromic deafness 10.0 CDH23 MYO7A USH1C USH1G
29 morning glory syndrome 10.0 ABCC8 KCNJ11
30 hyperinsulinism 9.9
31 neurogenic arthropathy 9.9 ABCC8 KCNJ11
32 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.6 ABCC8 KCNJ11
33 brugada syndrome 9.5 CDH23 LNX1 MYO7A USH1C USH1G USHBP1

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 via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
retinitis pigmentosa, progressive (prepubertal onset)
retinitis pigmentosa, sector type (in some patients)

Head And Neck- Ears:
sensorineural hearing loss, profound congenital
vestibular hypofunction


Clinical features from OMIM:

276904

Human phenotypes related to Usher Syndrome, Type 1c:

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

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 KCNJ11 DLG4
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 9.65 TJP1 USH1C USHBP1 ABCC8 CDH23 DLG4
2 hearing/vestibular/ear MP:0005377 9.46 CDH23 MYO7A USH1C USH1G
3 nervous system MP:0003631 9.17 CDH23 DLG4 KCNJ11 MYO7A TJP1 USH1C

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/Likely 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 GRCh37 Chromosome 11, 17565848: 17565848
11 USH1C NM_153676.3(USH1C): c.496+1G> A single nucleotide variant Pathogenic rs138138689 GRCh37 Chromosome 11, 17548769: 17548769
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

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 voltage-gated potassium channel complex GO:0008076 9.43 ABCC8 DLG4 KCNJ11
2 photoreceptor connecting cilium GO:0032391 9.37 MYO7A USH1G
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 cytosol GO:0005829 10.02 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 sensory perception of sound GO:0007605 9.65 CDH23 MYO7A TJP1 USH1C USH1G
2 inner ear morphogenesis GO:0042472 9.54 MYO7A USH1C USH1G
3 photoreceptor cell maintenance GO:0045494 9.5 CDH23 USH1C USH1G
4 negative regulation of insulin secretion GO:0046676 9.46 ABCC8 KCNJ11
5 inner ear receptor stereocilium organization GO:0060122 9.46 CDH23 MYO7A USH1C USH1G
6 auditory receptor cell differentiation GO:0042491 9.43 MYO7A USH1C
7 inner ear receptor cell differentiation GO:0060113 9.4 MYO7A USH1G
8 sensory perception of light stimulus GO:0050953 9.26 CDH23 MYO7A USH1C USH1G
9 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 protein C-terminus binding GO:0008022 9.46 DLG4 KCNJ11 PPP2CA TJP1
2 ATP-activated inward rectifier potassium channel activity GO:0015272 9.26 ABCC8 KCNJ11
3 spectrin binding GO:0030507 9.13 MYO7A USH1C USH1G
4 PDZ domain binding GO:0030165 8.92 DLG4 DOCK4 LNX1 USHBP1

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....