MCID: USH039
MIFTS: 41

Usher Syndrome, Type Ic

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

Aliases & Classifications for Usher Syndrome, Type Ic

MalaCards integrated aliases for Usher Syndrome, Type Ic:

Name: Usher Syndrome, Type Ic 57 73
Usher Syndrome, Type 1c 57 76 53 29 13 6 40
Ush1c 57 12 53 75
Usher Syndrome Type I Acadian Variety 12 75
Usher Syndrome Type 1c 12 15
Usher Syndrome Type Ic 12 75
Usher Syndrome, Type I, Acadian Variety 57
Usher Syndrome, Acadian Variety 53
Usher's Syndrome Type 1c 75
Acadian Usher Syndrome 75
Usher Syndrome 1c 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
usher syndrome, type ic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 276904
Disease Ontology 12 DOID:0110830
ICD10 33 H35.5
MedGen 42 C1848604
MeSH 44 D052245
SNOMED-CT via HPO 69 258211005 28835009 700453005
UMLS 73 C1848604

Summaries for Usher Syndrome, Type Ic

OMIM : 57 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 Ic, also known as usher syndrome, type 1c, is related to retinitis pigmentosa-deafness syndrome and usher syndrome. An important gene associated with Usher Syndrome, Type Ic is USH1C (USH1 Protein Network Component Harmonin), and among its related pathways/superpathways are Integration of energy metabolism and FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include retina, and related phenotypes are rod-cone dystrophy and vestibular hypofunction

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Related Diseases for Usher Syndrome, Type Ic

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome Type 2
Usher Syndrome, Type 2b

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 31.0 CDH23 MYO7A
2 usher syndrome 30.1 CDH23 MYO7A USH1C USHBP1
3 deafness, autosomal recessive 18a 11.7
4 polycystic kidney disease 10.5
5 usher syndrome, type ig 10.5 CDH23 MYO7A
6 deafness, autosomal recessive 23 10.4 CDH23 MYO7A
7 deafness, autosomal recessive 85 10.4 CDH23 MYO7A
8 deafness, autosomal recessive 83 10.4 CDH23 MYO7A
9 deafness, autosomal recessive 12 10.4 CDH23 MYO7A
10 autosomal recessive nonsyndromic deafness 3 10.3 CDH23 MYO7A
11 usher syndrome, type if 10.2 CDH23 MYO7A USH1C
12 usher syndrome, type id 10.2 CDH23 MYO7A USH1C
13 usher syndrome, type iid 10.2 CDH23 MYO7A USH1C
14 usher syndrome, type iiia 10.2 CDH23 MYO7A USH1C
15 usher syndrome, type iic 10.2 CDH23 MYO7A USH1C
16 deafness, autosomal dominant 6 10.2 CDH23 MYO7A
17 usher syndrome type 2 10.2 CDH23 MYO7A USH1C
18 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.2 CDH23 MYO7A USH1C
19 usher syndrome, type i 10.2 CDH23 MYO7A USH1C
20 munchausen by proxy 10.0 ABCC8 KCNJ11
21 cardiomyopathy, dilated, 1o 10.0 ABCC8 KCNJ11
22 nonsyndromic deafness 10.0 CDH23 MYO7A USH1C
23 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 ABCC8 KCNJ11
24 factitious disorder 10.0 ABCC8 KCNJ11
25 hyperinsulinemic hypoglycemia, familial, 2 10.0 ABCC8 KCNJ11
26 acute insulin response 9.9 ABCC8 KCNJ11
27 cantu syndrome 9.9 ABCC8 KCNJ11
28 monogenic diabetes 9.9 ABCC8 KCNJ11
29 pancreatic agenesis 9.8 ABCC8 KCNJ11
30 endocrine pancreas disease 9.8 ABCC8 KCNJ11
31 inner ear disease 9.7 CDH23 MYO7A
32 pancreas disease 9.7 ABCC8 KCNJ11
33 diabetes mellitus, transient neonatal, 1 9.6 ABCC8 KCNJ11
34 hyperinsulinemic hypoglycemia 9.5 ABCC8 KCNJ11

Graphical network of the top 20 diseases related to Usher Syndrome, Type Ic:



Diseases related to Usher Syndrome, Type Ic

Symptoms & Phenotypes for Usher Syndrome, Type Ic

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
sensorineural hearing loss, profound congenital
vestibular hypofunction

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


Clinical features from OMIM:

276904

Human phenotypes related to Usher Syndrome, Type Ic:

32
# 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 Ic according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.5 DOCK2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.5 DOCK2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.5 DLG4 DOCK2 KCNJ11
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.5 DOCK2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.5 KCNJ11
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.5 KCNJ11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.5 KCNJ11
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.5 DOCK2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.5 DOCK2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.5 DLG4 KCNJ11
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.5 KCNJ11
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.5 DOCK2

MGI Mouse Phenotypes related to Usher Syndrome, Type Ic:

46
# 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 Ic

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type Ic

Genetic Tests for Usher Syndrome, Type Ic

Genetic tests related to Usher Syndrome, Type Ic:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 1c 29 USH1C

Anatomical Context for Usher Syndrome, Type Ic

MalaCards organs/tissues related to Usher Syndrome, Type Ic:

41
Retina

Publications for Usher Syndrome, Type Ic

Articles related to Usher Syndrome, Type Ic:

# Title Authors Year
1
Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. ( 29037661 )
2018
2
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. ( 28165476 )
2017
3
Therapy strategies for Usher syndrome Type 1C in the retina. ( 24664766 )
2014
4
PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. ( 21235327 )
2011
5
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. ( 12107438 )
2002
6
Two families from New England with usher syndrome type IC with distinct haplotypes. ( 11239869 )
2001
7
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. ( 10973247 )
2000
8
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
9
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. ( 8828039 )
1996
10
Fine mapping of the usher syndrome type IC to chromosome 11p14 and identification of flanking markers by haplotype analysis. ( 9238080 )
1995

Variations for Usher Syndrome, Type Ic

ClinVar genetic disease variations for Usher Syndrome, Type Ic:

6
(show all 19)
# 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.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh38 Chromosome 11, 17531409: 17531409
4 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic rs151045328 GRCh37 Chromosome 11, 17552978: 17552978
5 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic rs151045328 GRCh38 Chromosome 11, 17531431: 17531431
6 USH1C USH1C, IVS1DS, G-T, +1 single nucleotide variant Pathogenic
7 USH1C USH1C, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
8 USH1C NM_005709.3(USH1C): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs121908370 GRCh37 Chromosome 11, 17554815: 17554815
9 USH1C NM_005709.3(USH1C): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs121908370 GRCh38 Chromosome 11, 17533268: 17533268
10 USH1C NM_005709.3(USH1C): c.308G> A (p.Arg103His) single nucleotide variant Pathogenic rs397514500 GRCh37 Chromosome 11, 17552780: 17552780
11 USH1C NM_005709.3(USH1C): c.308G> A (p.Arg103His) single nucleotide variant Pathogenic rs397514500 GRCh38 Chromosome 11, 17531233: 17531233
12 USH1C USH1C, IVS16AS, G-T, -1 single nucleotide variant Pathogenic
13 USH1C USH1C, 1-BP DEL, 1220G deletion Pathogenic
14 USH1C NM_005709.3(USH1C): c.7C> T (p.Arg3Ter) single nucleotide variant Pathogenic rs876657624 GRCh38 Chromosome 11, 17544301: 17544301
15 USH1C NM_005709.3(USH1C): c.7C> T (p.Arg3Ter) single nucleotide variant Pathogenic rs876657624 GRCh37 Chromosome 11, 17565848: 17565848
16 USH1C NM_153676.3(USH1C): c.496+1G> A single nucleotide variant Pathogenic rs138138689 GRCh37 Chromosome 11, 17548769: 17548769
17 USH1C NM_153676.3(USH1C): c.496+1G> A single nucleotide variant Pathogenic rs138138689 GRCh38 Chromosome 11, 17527222: 17527222
18 USH1C NM_153676.3(USH1C): c.463C> T (p.Arg155Ter) single nucleotide variant Likely pathogenic rs377145777 GRCh38 Chromosome 11, 17527256: 17527256
19 USH1C NM_153676.3(USH1C): c.463C> T (p.Arg155Ter) single nucleotide variant Likely pathogenic rs377145777 GRCh37 Chromosome 11, 17548803: 17548803

Expression for Usher Syndrome, Type Ic

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

Pathways for Usher Syndrome, Type Ic

GO Terms for Usher Syndrome, Type Ic

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.81 DLG4 DOCK2 DOCK4 KCNJ11 MYO7A PPP2CA
2 intercalated disc GO:0014704 9.37 KCNJ11 TJP1
3 photoreceptor inner segment GO:0001917 9.32 MYO7A USH1C
4 photoreceptor connecting cilium GO:0032391 9.26 MYO7A USH1C
5 inward rectifying potassium channel GO:0008282 8.96 ABCC8 KCNJ11
6 stereocilium GO:0032420 8.92 CDH23 DOCK4 MYO7A USH1C

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.56 CDH23 MYO7A TJP1 USH1C
2 photoreceptor cell maintenance GO:0045494 9.37 CDH23 USH1C
3 inner ear receptor cell stereocilium organization GO:0060122 9.33 CDH23 MYO7A USH1C
4 inner ear auditory receptor cell differentiation GO:0042491 9.32 MYO7A USH1C
5 sensory perception of light stimulus GO:0050953 9.13 CDH23 MYO7A USH1C
6 equilibrioception GO:0050957 8.8 CDH23 MYO7A USH1C

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

# Name GO ID Score Top Affiliating Genes
1 PDZ domain binding GO:0030165 9.33 DLG4 DOCK4 USHBP1
2 spectrin binding GO:0030507 9.26 MYO7A USH1C
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 ABCC8 KCNJ11
4 protein C-terminus binding GO:0008022 8.92 DLG4 KCNJ11 PPP2CA TJP1

Sources for Usher Syndrome, Type Ic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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