USH4
MCID: USH045
MIFTS: 12

Usher Syndrome, Type Iv (USH4)

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

Aliases & Classifications for Usher Syndrome, Type Iv

MalaCards integrated aliases for Usher Syndrome, Type Iv:

Name: Usher Syndrome, Type Iv 57 6
Ush4 57

Classifications:



External Ids:

OMIM 57 618144

Summaries for Usher Syndrome, Type Iv

OMIM : 57 An atypical form of Usher syndrome, here designated type IV, is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by Khateb et al., 2018). For a discussion of genetic heterogeneity of Usher syndrome, see 276900. (618144)

MalaCards based summary : Usher Syndrome, Type Iv, is also known as ush4. An important gene associated with Usher Syndrome, Type Iv is ARSG (Arylsulfatase G). Affiliated tissues include eye.

Related Diseases for Usher Syndrome, Type Iv

Symptoms & Phenotypes for Usher Syndrome, Type Iv

Clinical features from OMIM:

618144

Drugs & Therapeutics for Usher Syndrome, Type Iv

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type Iv

Genetic Tests for Usher Syndrome, Type Iv

Anatomical Context for Usher Syndrome, Type Iv

MalaCards organs/tissues related to Usher Syndrome, Type Iv:

41
Eye

Publications for Usher Syndrome, Type Iv

Variations for Usher Syndrome, Type Iv

ClinVar genetic disease variations for Usher Syndrome, Type Iv:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARSG NM_014960.4(ARSG): c.133G> T (p.Asp45Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 68307626: 68307626
2 ARSG NM_014960.4(ARSG): c.133G> T (p.Asp45Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 66303767: 66303767

Expression for Usher Syndrome, Type Iv

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

Pathways for Usher Syndrome, Type Iv

GO Terms for Usher Syndrome, Type Iv

Sources for Usher Syndrome, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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