MCID: USH031
MIFTS: 30

Usher Syndrome, Type Ij

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

Aliases & Classifications for Usher Syndrome, Type Ij

MalaCards integrated aliases for Usher Syndrome, Type Ij:

Name: Usher Syndrome, Type Ij 53 13 69
Ush1j 53 12 71
Usher Syndrome Type 1j 12 14
Usher Syndrome Type Ij 12 71
Usher's Syndrome Type 1j 71
Usher Syndrome, Type 1j 28
Usher Syndrome 1j 71

Characteristics:

OMIM:

53
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:

OMIM 53 614869
Disease Ontology 12 DOID:0110836
ICD10 32 H35.5
MeSH 41 D052245
SNOMED-CT via HPO 65 258211005 28835009
UMLS 69 C3553944

Summaries for Usher Syndrome, Type Ij

OMIM : 53 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 ush1j, is related to deafness, autosomal recessive 48 and retinitis pigmentosa-deafness syndrome, and has symptoms including rod-cone dystrophy, motor delay and vestibular dysfunction. An important gene associated with Usher Syndrome, Type Ij is CIB2 (Calcium And Integrin Binding Family Member 2). Related phenotypes are Decreased viability and Decreased viability

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 : 71 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

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEars:
deafness, sensorineural, profound
vestibular dysfunction

NeurologicCentralNervousSystem:
delayed motor development

HeadAndNeckEyes:
retinitis pigmentosa


Clinical features from OMIM:

614869

Human phenotypes related to Usher Syndrome, Type Ij:

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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.26 CIB2
2 Decreased viability GR00221-A-2 9.26 CIB2
3 Decreased viability GR00221-A-3 9.26 CIB2 CIB4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.23 CIB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.23 CIB2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.23 CIB2 CIB4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.23 CIB4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.23 CIB4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.23 CIB2
10 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 28 CIB2

Anatomical Context for Usher Syndrome, Type Ij

Publications for Usher Syndrome, Type Ij

Articles related to Usher Syndrome, Type Ij:

# Title Authors Year
1
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
2
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. ( 23023331 )
2012

Variations for Usher Syndrome, Type Ij

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

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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