USH1J
MCID: USH031
MIFTS: 27

Usher Syndrome, Type Ij (USH1J) malady

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

Aliases & Classifications for Usher Syndrome, Type Ij

Aliases & Descriptions for Usher Syndrome, Type Ij:

Name: Usher Syndrome, Type Ij 54 13 69
Usher Syndrome Type 1j 12 24 14
Usher's Syndrome Type 1j 66 29
Usher Syndrome Type Ij 12 66
Ush1j 12 66
Usher Syndrome 1j 66

Characteristics:

HPO:

32
usher syndrome, type ij:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 614869
Disease Ontology 12 DOID:0110836
ICD10 33 H35.5
MeSH 42 D052245

Summaries for Usher Syndrome, Type Ij

OMIM : 54 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with... (614869) more...

MalaCards based summary : Usher Syndrome, Type Ij, also known as usher syndrome type 1j, is related to usher syndrome, type 1b and usher syndrome, and has symptoms including motor delay, rod-cone dystrophy and vestibular dysfunction. An important gene associated with Usher Syndrome, Type Ij is CIB2 (Calcium And Integrin Binding Family Member 2).

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 : 66 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 by clinical synopsis from OMIM:

614869

Clinical features from OMIM:

614869

Human phenotypes related to Usher Syndrome, Type Ij:

32
id Description HPO Frequency HPO Source Accession
1 motor delay 32 HP:0001270
2 rod-cone dystrophy 32 HP:0000510
3 vestibular dysfunction 32 HP:0001751

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:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1j 29
2 Usher Syndrome Type 1j 24 CIB2

Anatomical Context for Usher Syndrome, Type Ij

Publications for Usher Syndrome, Type Ij

Variations for Usher Syndrome, Type Ij

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

66
id Symbol AA change Variation ID SNP ID
1 CIB2 p.Glu64Asp VAR_069086 rs145415848

ClinVar genetic disease variations for Usher Syndrome, Type Ij:

6
id 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:

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.96 CIB1 CIB2
2 sarcolemma GO:0042383 8.62 CIB1 CIB2

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.62 CIB1 CIB2

Sources for Usher Syndrome, Type Ij

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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