MCID: USH031
MIFTS: 26

Usher Syndrome, Type Ij 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 50 12
Usher's Syndrome Type 1j 68 25
Usher Syndrome Type Ij 68
 
Usher Syndrome 1j 68
Ush1j 68

Characteristics:

HPO:

62
usher syndrome, type ij:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 614869
MeSH37 D052245

Summaries for Usher Syndrome, Type Ij

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OMIM:50 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's syndrome type 1j, is related to usher syndrome, type 1b and usher syndrome, type ij, 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).

UniProtKB/Swiss-Prot:68 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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Symptoms for Usher Syndrome, Type Ij

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Symptoms by clinical synopsis from OMIM:

614869

Clinical features from OMIM:

614869

HPO human phenotypes related to Usher Syndrome, Type Ij:

id Description Frequency HPO Source Accession
1 rod-cone dystrophy HP:0000510
2 motor delay HP:0001270
3 vestibular dysfunction 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 1j25

Anatomical Context for Usher Syndrome, Type Ij

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Animal Models for Usher Syndrome, Type Ij or affiliated genes

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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:

68
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)single nucleotide variantPathogenicrs145415848GRCh37Chr 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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Sources for Usher Syndrome, Type Ij

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet