USH1J
MCID: USH031
MIFTS: 30

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 58 13 74
Usher Syndrome, Type 1j 30 6 41
Ush1j 58 12 76
Usher Syndrome Type 1j 12 15
Usher Syndrome Type Ij 12 76
Usher's Syndrome Type 1j 76
Usher Syndrome 1j 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
usher syndrome, type ij:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110836
OMIM 58 614869
MeSH 45 D052245
ICD10 34 H35.5
SNOMED-CT via HPO 70 258211005 28835009
UMLS 74 C3553944

Summaries for Usher Syndrome, Type Ij

OMIM : 58 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)

MalaCards based summary : Usher Syndrome, Type Ij, also known as usher syndrome, type 1j, is related to deafness, autosomal recessive 48 and retinitis pigmentosa-deafness syndrome. An important gene associated with Usher Syndrome, Type Ij is CIB2 (Calcium And Integrin Binding Family Member 2). Affiliated tissues include eye, 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 : 76 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

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:

33
# Description HPO Frequency HPO Source Accession
1 motor delay 33 HP:0001270
2 rod-cone dystrophy 33 HP:0000510
3 vestibular dysfunction 33 HP:0001751

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.23 CIB2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.23 CIB2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.23 CIB2 CIB4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.23 CIB4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.23 CIB4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.23 CIB2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.23 CIB4

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 30 CIB2

Anatomical Context for Usher Syndrome, Type Ij

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

42
Eye

Publications for Usher Syndrome, Type Ij

Articles related to Usher Syndrome, Type Ij:

# Title Authors Year
1
Preferential Binding of Mg2+ Over Ca2+ to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J. ( 30174586 )
2018
2
Variants in CIB2 cause DFNB48 and not USH1J. ( 29112224 )
2018
3
Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48. ( 23331261 )
2013
4
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. ( 23023331 )
2012
5
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. ( 18505454 )
2009

Variations for Usher Syndrome, Type Ij

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

76
# Symbol AA change Variation ID SNP ID
1 CIB2 p.Glu64Asp VAR_069086 rs145415848

ClinVar genetic disease variations for Usher Syndrome, Type Ij:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CIB2 NM_006383.3(CIB2): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs145415848 GRCh37 Chromosome 15, 78403513: 78403513
2 CIB2 NM_006383.3(CIB2): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs145415848 GRCh38 Chromosome 15, 78111171: 78111171

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:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 8.62 CIB1 CIB2

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

# Name GO ID Score Top Affiliating Genes
1 magnesium ion binding GO:0000287 8.96 CIB2 CIB4
2 calcium ion binding GO:0005509 8.8 CIB1 CIB2 CIB4

Sources for Usher Syndrome, Type Ij

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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