MCID: USH031
MIFTS: 21

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 51 12 67
Usher's Syndrome Type 1j 69 26
Usher Syndrome Type Ij 69
 
Usher Syndrome 1j 69
Ush1j 69

Characteristics:

HPO:

63
usher syndrome, type ij:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



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OMIM51 614869
MeSH38 D052245

Summaries for Usher Syndrome, Type Ij

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OMIM:51 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 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:69 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

Human phenotypes related to Usher Syndrome, Type Ij:

 63
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy63 HP:0000510
2 motor delay63 HP:0001270
3 vestibular dysfunction63 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 1j26

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:

69
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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Sources for Usher Syndrome, Type Ij

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet