MCID: USH034
MIFTS: 22

Usher Syndrome, Type 2d malady

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

Aliases & Classifications for Usher Syndrome, Type 2d

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Aliases & Descriptions for Usher Syndrome, Type 2d:

Name: Usher Syndrome, Type 2d 50 12
Usher Syndrome 2d 68 25
Ush2d 23 68
 
Usher Syndrome, Type Ii 66
Usher Syndrome Type 2d 23

Characteristics:

HPO:

62
usher syndrome, type 2d:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 611383
MedGen35 C1568249
MeSH37 D052245

Summaries for Usher Syndrome, Type 2d

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OMIM:50 Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by... (611383) more...

MalaCards based summary: Usher Syndrome, Type 2d, also known as usher syndrome 2d, is related to usher syndrome, type 2a, and has symptoms including hearing impairment and rod-cone dystrophy. An important gene associated with Usher Syndrome, Type 2d is WHRN (Whirlin).

UniProtKB/Swiss-Prot:68 Usher syndrome 2D: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.

Related Diseases for Usher Syndrome, Type 2d

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Symptoms for Usher Syndrome, Type 2d

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Symptoms by clinical synopsis from OMIM:

611383

Clinical features from OMIM:

611383

HPO human phenotypes related to Usher Syndrome, Type 2d:

id Description Frequency HPO Source Accession
1 hearing impairment HP:0000365
2 rod-cone dystrophy HP:0000510

Drugs & Therapeutics for Usher Syndrome, Type 2d

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Usher Syndrome, Type 2d

Genetic Tests for Usher Syndrome, Type 2d

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Genetic tests related to Usher Syndrome, Type 2d:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 2d25
2 Usher Syndrome Type 2d23 WHRN

Anatomical Context for Usher Syndrome, Type 2d

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Animal Models for Usher Syndrome, Type 2d or affiliated genes

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Publications for Usher Syndrome, Type 2d

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Variations for Usher Syndrome, Type 2d

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Clinvar genetic disease variations for Usher Syndrome, Type 2d:

5
id Gene Variation Type Significance SNP ID Assembly Location
1WHRNNM_015404.3(WHRN): c.307C> T (p.Gln103Ter)single nucleotide variantPathogenicrs137852840GRCh37Chr 9, 117266775: 117266775
2WHRNDFNB31, IVS2DS, G-A, +1single nucleotide variantPathogenic
3WHRNDFNB31, 1-BP DEL, 737CdeletionPathogenic
4WHRNDFNB31, 1-BP DUP, 680GinsertionPathogenic
5WHRNNM_015404.3(WHRN): c.1267C> T (p.Arg423Ter)single nucleotide variantPathogenicrs397517255GRCh37Chr 9, 117186763: 117186763
6WHRNNM_015404.3(WHRN): c.643delG (p.Val215Cysfs)deletionPathogenicrs397517258GRCh37Chr 9, 117241027: 117241027

Expression for genes affiliated with Usher Syndrome, Type 2d

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Search GEO for disease gene expression data for Usher Syndrome, Type 2d.

Pathways for genes affiliated with Usher Syndrome, Type 2d

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GO Terms for genes affiliated with Usher Syndrome, Type 2d

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Sources for Usher Syndrome, Type 2d

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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