MCID: USH034
MIFTS: 21

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 52 12
Usher Syndrome 2d 70 27
Ush2d 24 70
 
Usher Syndrome, Type Ii 68
Usher Syndrome Type 2d 24

Characteristics:

HPO:

64
usher syndrome, type 2d:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 611383
MedGen37 C1568249
MeSH39 D052245

Summaries for Usher Syndrome, Type 2d

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OMIM:52 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:70 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 & Phenotypes for Usher Syndrome, Type 2d

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Symptoms by clinical synopsis from OMIM:

611383

Clinical features from OMIM:

611383

Human phenotypes related to Usher Syndrome, Type 2d:

 64
id Description HPO Frequency HPO Source Accession
1 hearing impairment64 HP:0000365
2 rod-cone dystrophy64 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 2d27
2 Usher Syndrome Type 2d24 WHRN

Anatomical Context for Usher Syndrome, Type 2d

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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)SNVPathogenicrs137852840GRCh37Chr 9, 117266775: 117266775
2WHRNDFNB31, IVS2DS, G-A, +1SNVPathogenicChr na, -1: -1
3WHRNDFNB31, 1-BP DEL, 737CdeletionPathogenicChr na, -1: -1
4WHRNDFNB31, 1-BP DUP, 680GinsertionPathogenicChr na, -1: -1
5WHRNNM_015404.3(WHRN): c.1267C> T (p.Arg423Ter)SNVPathogenicrs397517255GRCh37Chr 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
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