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

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Aliases & Descriptions for Usher Syndrome, Type Ij:

Name: Usher Syndrome, Type Ij 52 12 68
Usher Syndrome Type 1j 11 24 13
Usher's Syndrome Type 1j 70 27
 
Usher Syndrome Type Ij 11 70
Ush1j 11 70
Usher Syndrome 1j 70

Characteristics:

HPO:

64
usher syndrome, type ij:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



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OMIM52 614869
Disease Ontology11 DOID:0110836
ICD1030 H35.5
MeSH39 D052245

Summaries for Usher Syndrome, Type Ij

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OMIM:52 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 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).

Disease Ontology:11 An Usher syndrome type 1 that has material basis in caused by homozygous mutation in the CIB2 gene on chromosome 15q24.

UniProtKB/Swiss-Prot:70 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

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



Diseases related to usher syndrome, type ij

Symptoms & Phenotypes for Usher Syndrome, Type Ij

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Symptoms by clinical synopsis from OMIM:

614869

Clinical features from OMIM:

614869

Human phenotypes related to Usher Syndrome, Type Ij:

 64
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy64 HP:0000510
2 motor delay64 HP:0001270
3 vestibular dysfunction64 HP:0001751

Drugs & Therapeutics for Usher Syndrome, Type Ij

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Interventional clinical trials:

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

Genetic Tests for Usher Syndrome, Type Ij

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Genetic tests related to Usher Syndrome, Type Ij:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1j27
2 Usher Syndrome Type 1j24 CIB2

Anatomical Context for Usher Syndrome, Type Ij

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Publications for Usher Syndrome, Type Ij

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Variations for Usher Syndrome, Type Ij

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

70
id Symbol AA change Variation ID SNP ID
1CIB2p.Glu64AspVAR_069086rs145415848

Clinvar genetic disease variations for Usher Syndrome, Type Ij:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CIB2NM_ 006383.3(CIB2): c.192G> C (p.Glu64Asp)SNVPathogenicrs145415848GRCh37Chr 15, 78403513: 78403513

Expression for genes affiliated with Usher Syndrome, Type Ij

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

Pathways for genes affiliated with Usher Syndrome, Type Ij

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GO Terms for genes affiliated with Usher Syndrome, Type Ij

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

idNameGO IDScoreTop Affiliating Genes
1cell projectionGO:00429959.6CIB1, CIB2
2sarcolemmaGO:00423839.1CIB1, CIB2

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.1CIB1, CIB2

Sources for Usher Syndrome, Type Ij

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet