USH1J
MCID: USH031
MIFTS: 36

Usher Syndrome, Type Ij (USH1J)

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

Aliases & Classifications for Usher Syndrome, Type Ij

MalaCards integrated aliases for Usher Syndrome, Type Ij:

Name: Usher Syndrome, Type Ij 57 13 70
Usher Syndrome, Type 1j 29 6 39
Ush1j 57 12 72
Usher Syndrome Type 1j 12 15
Usher Syndrome Type Ij 12 72
Usher's Syndrome Type 1j 72
Usher Syndrome 1j 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one pakistani family has been reported (last curated october 2012)


HPO:

31
usher syndrome, type ij:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110836
OMIM® 57 614869
OMIM Phenotypic Series 57 PS276900
MeSH 44 D052245
ICD10 32 H35.5
SNOMED-CT via HPO 68 258211005 28835009
UMLS 70 C3553944

Summaries for Usher Syndrome, Type Ij

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). (614869) (Updated 20-May-2021)

MalaCards based summary : Usher Syndrome, Type Ij, also known as usher syndrome, type 1j, is related to nonsyndromic deafness and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Usher Syndrome, Type Ij is CIB2 (Calcium And Integrin Binding Family Member 2). Affiliated tissues include eye and retina, and related phenotypes are motor delay and rod-cone dystrophy

Disease Ontology : 12 An Usher syndrome type 1 that has material basis in caused by homozygous mutation in the CIB2 gene on chromosome 15q24.

UniProtKB/Swiss-Prot : 72 Usher syndrome 1J: 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 Ij

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 Iv
Usher Syndrome, Type 1m Usher Syndrome Type 2
Usher Syndrome, Type 2b

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 30.0 PCDH15 MYO7A CDH23
2 yemenite deaf-blind hypopigmentation syndrome 29.3 USH2A MYO7A
3 deafness, autosomal recessive 48 29.0 WHRN PDZD7 MYO7A CIB4 CIB2
4 branchiootic syndrome 1 28.7 WHRN USH2A USH1G MYO7A CDH23
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.5 WHRN USH1G USH1C PCDH15 MYO7A CIB2
6 usher syndrome, type ih 28.3 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
7 sensorineural hearing loss 27.6 WHRN USH2A USH1G USH1C PDZD7 PCDH15
8 rare genetic deafness 27.5 WHRN USH2A USH1C PCDH15 MYO7A CLRN1
9 retinitis pigmentosa-deafness syndrome 27.5 WHRN USH2A USH1G USH1C PCDH15 MYO7A
10 usher syndrome 26.9 WHRN USH2A USH1G USH1C PDZD7 PCDH15
11 usher syndrome, type i 26.5 WHRN USH2A USH1G USH1C PDZD7 PCDH15
12 deafness, autosomal dominant 65 10.2 WHRN PCDH15
13 deafness, autosomal recessive 67 10.2 PCDH15 CIB2
14 acute hemorrhagic leukoencephalitis 10.1 USH1G CDH23
15 y-linked monogenic disease 10.1 PCDH15 CDH23
16 deafness, autosomal dominant 20 10.1 USH1G CDH23
17 deafness, autosomal dominant 48 10.1 MYO7A CIB2
18 autosomal recessive nonsyndromic deafness 36 10.0 WHRN USH1C PCDH15
19 dfnb1 10.0 PCDH15 MYO7A
20 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.0 PCDH15 CDH23
21 deafness, autosomal recessive 86 10.0 WHRN PCDH15 CDH23
22 deafness, autosomal dominant 36 10.0 PCDH15 CDH23
23 deafness, autosomal recessive 83 10.0 MYO7A CDH23
24 deafness, autosomal recessive 62 10.0 CDH23 ADGRV1
25 deafness, autosomal dominant 6 10.0 MYO7A CDH23
26 nonsyndromic retinitis pigmentosa 9.9 USH2A CLRN1
27 deafness, autosomal dominant 56 9.9 WHRN USH2A
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
29 deafness, autosomal recessive 100 9.9 MYO7A ADGRV1
30 deafness, autosomal recessive 7 9.9 MYO7A CDH23
31 deafness, autosomal recessive 30 9.9 WHRN PCDH15 MYO7A
32 usher syndrome, type ik 9.9 PCDH15 CLRN1 CIB2 CDH23
33 autosomal recessive nonsyndromic deafness 3 9.8 WHRN MYO7A CDH23
34 rare deafness 9.8 PCDH15 MYO7A CDH23
35 vestibular disease 9.8 PCDH15 MYO7A CDH23
36 deafness, autosomal recessive 57 9.8 WHRN PDZD7 CIB2 ADGRV1
37 stickler syndrome 9.8 WHRN USH1C PCDH15 CDH23
38 deafness, autosomal recessive 9 9.7 MYO7A CDH23
39 usher syndrome, type 2b 9.7 PDZD7 ADGRV1
40 late-onset retinal degeneration 9.7 WHRN USH2A ADGRV1
41 deafness, autosomal recessive 18a 9.6 USH1C PCDH15 MYO7A CDH23
42 choroid disease 9.6 USH2A MYO7A
43 stargardt disease 9.6 USH2A MYO7A CLRN1
44 non-syndromic genetic deafness 9.5 USH2A MYO7A CDH23
45 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 WHRN USH1C PCDH15 MYO7A CDH23
46 nonsyndromic hearing loss 9.3 USH2A PCDH15 MYO7A CDH23
47 retinal degeneration 9.3 USH2A USH1C MYO7A CDH23
48 usher syndrome, type ic 9.3 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
49 usher syndrome, type ig 9.3 WHRN USH1G USH1C PCDH15 MYO7A CDH23
50 autosomal dominant non-syndromic sensorineural deafness type dfna 9.2 USH1G PCDH15 MYO7A CIB2 CDH23 ADGRV1

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



Diseases related to Usher Syndrome, Type Ij

Symptoms & Phenotypes for Usher Syndrome, Type Ij

Human phenotypes related to Usher Syndrome, Type Ij:

31
# Description HPO Frequency HPO Source Accession
1 motor delay 31 HP:0001270
2 rod-cone dystrophy 31 HP:0000510
3 vestibular dysfunction 31 HP:0001751

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
vestibular dysfunction
deafness, sensorineural, profound

Head And Neck Eyes:
retinitis pigmentosa

Neurologic Central Nervous System:
delayed motor development

Clinical features from OMIM®:

614869 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Usher Syndrome, Type Ij:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
2 hearing/vestibular/ear MP:0005377 9.9 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
3 nervous system MP:0003631 9.7 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
4 vision/eye MP:0005391 9.36 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15

Drugs & Therapeutics for Usher Syndrome, Type Ij

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

Genetic Tests for Usher Syndrome, Type Ij

Genetic tests related to Usher Syndrome, Type Ij:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 1j 29 CIB2

Anatomical Context for Usher Syndrome, Type Ij

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

40
Eye, Retina

Publications for Usher Syndrome, Type Ij

Articles related to Usher Syndrome, Type Ij:

# Title Authors PMID Year
1
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. 6 57 61
23023331 2012
2
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. 57 6
18505454 2009
3
Usher syndrome: an otoneurologic study. 57
2909824 1989
4
Variants in CIB2 cause DFNB48 and not USH1J. 61
29112224 2018
5
Preferential Binding of Mg2+ Over Ca2+ to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J. 61
30174586 2018
6
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. 61
29084757 2017
7
Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice. 61
29255404 2017
8
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. 61
26173970 2016

Variations for Usher Syndrome, Type Ij

ClinVar genetic disease variations for Usher Syndrome, Type Ij:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CIB2 NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) SNV Pathogenic 39688 rs145415848 GRCh37: 15:78403513-78403513
GRCh38: 15:78111171-78111171
2 CIB2 NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) SNV Likely pathogenic 499480 rs370359511 GRCh37: 15:78397661-78397661
GRCh38: 15:78105319-78105319

UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type Ij:

72
# Symbol AA change Variation ID SNP ID
1 CIB2 p.Glu64Asp VAR_069086 rs145415848

Expression for Usher Syndrome, Type Ij

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

Pathways for Usher Syndrome, Type Ij

GO Terms for Usher Syndrome, Type Ij

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.22 WHRN USH2A USH1G USH1C PDZD7 PCDH15
2 cell projection GO:0042995 9.99 WHRN USH2A USH1C PDZD7 CIB2 ADGRV1
3 synapse GO:0045202 9.95 WHRN USH1C PCDH15 MYO7A ADGRV1
4 ciliary basal body GO:0036064 9.73 WHRN USH2A USH1G
5 photoreceptor outer segment GO:0001750 9.73 USH1C PCDH15 MYO7A CIB2
6 photoreceptor connecting cilium GO:0032391 9.73 WHRN USH2A USH1G USH1C PDZD7 MYO7A
7 microvillus GO:0005902 9.67 USH1C MYO7A CLRN1
8 USH2 complex GO:1990696 9.67 WHRN USH2A PDZD7 ADGRV1
9 stereocilium tip GO:0032426 9.63 WHRN USH1C PDZD7
10 stereocilia ankle link GO:0002141 9.62 WHRN USH2A PDZD7 ADGRV1
11 periciliary membrane compartment GO:1990075 9.58 WHRN USH2A ADGRV1
12 photoreceptor inner segment GO:0001917 9.56 WHRN USH2A USH1G USH1C PDZD7 MYO7A
13 stereocilia ankle link complex GO:0002142 9.55 WHRN USH2A USH1C PDZD7 ADGRV1
14 stereocilium bundle GO:0032421 9.54 WHRN USH2A
15 stereocilium membrane GO:0060171 9.48 USH2A ADGRV1
16 stereocilium GO:0032420 9.28 WHRN USH1C PDZD7 PCDH15 MYO7A CLRN1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.86 USH2A CLRN1 CDH23 ADGRV1
2 visual perception GO:0007601 9.85 USH2A MYO7A CLRN1 CDH23 ADGRV1
3 inner ear receptor cell stereocilium organization GO:0060122 9.8 WHRN USH1G USH1C MYO7A CDH23 ADGRV1
4 photoreceptor cell maintenance GO:0045494 9.76 USH2A USH1G USH1C PCDH15 CLRN1 CIB2
5 equilibrioception GO:0050957 9.73 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
6 establishment of protein localization GO:0045184 9.71 WHRN USH2A PDZD7 ADGRV1
7 inner ear morphogenesis GO:0042472 9.7 USH1G USH1C MYO7A
8 inner ear development GO:0048839 9.67 PCDH15 MYO7A ADGRV1
9 auditory receptor cell stereocilium organization GO:0060088 9.67 WHRN PDZD7 MYO7A CLRN1
10 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.65 WHRN PDZD7 ADGRV1
11 inner ear receptor cell differentiation GO:0060113 9.61 USH2A USH1G MYO7A
12 sensory perception of light stimulus GO:0050953 9.61 WHRN USH2A USH1G USH1C PCDH15 MYO7A
13 auditory receptor cell development GO:0060117 9.55 PDZD7 CLRN1
14 inner ear auditory receptor cell differentiation GO:0042491 9.54 USH1C MYO7A
15 maintenance of animal organ identity GO:0048496 9.51 USH2A ADGRV1
16 sensory perception of sound GO:0007605 9.32 WHRN USH2A USH1G USH1C PDZD7 PCDH15

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.35 PCDH15 CIB4 CIB2 CDH23 ADGRV1
2 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

Sources for Usher Syndrome, Type Ij

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....