MCID: USH043
MIFTS: 19

Usher Syndrome, Type Ih

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

Aliases & Classifications for Usher Syndrome, Type Ih

MalaCards integrated aliases for Usher Syndrome, Type Ih:

Name: Usher Syndrome, Type Ih 58 74
Usher Syndrome, Type 1h 58 30 13
Ush1h 58 12
Usher Syndrome Type 1h 12
Usher Syndrome Type Ih 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110835
OMIM 58 612632
ICD10 34 H35.5
UMLS 74 C2675458

Summaries for Usher Syndrome, Type Ih

OMIM : 58 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (276900). (612632)

MalaCards based summary : Usher Syndrome, Type Ih, also known as usher syndrome, type 1h, is related to usher syndrome and usher syndrome, type id. An important gene associated with Usher Syndrome, Type Ih is USH1H (Usher Syndrome 1H (Autosomal Recessive)).

Disease Ontology : 12 An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.

Related Diseases for Usher Syndrome, Type Ih

Graphical network of the top 20 diseases related to Usher Syndrome, Type Ih:



Diseases related to Usher Syndrome, Type Ih

Symptoms & Phenotypes for Usher Syndrome, Type Ih

Clinical features from OMIM:

612632

Drugs & Therapeutics for Usher Syndrome, Type Ih

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

Genetic Tests for Usher Syndrome, Type Ih

Genetic tests related to Usher Syndrome, Type Ih:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 1h 30

Anatomical Context for Usher Syndrome, Type Ih

Publications for Usher Syndrome, Type Ih

Variations for Usher Syndrome, Type Ih

Expression for Usher Syndrome, Type Ih

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

Pathways for Usher Syndrome, Type Ih

GO Terms for Usher Syndrome, Type Ih

Sources for Usher Syndrome, Type Ih

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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