USH1H
MCID: USH043
MIFTS: 20

Usher Syndrome, Type Ih (USH1H)

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 57 72
Usher Syndrome, Type 1h 57 29 13
Ush1h 57 12
Usher Syndrome Type 1h 12
Usher Syndrome Type Ih 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110835
ICD10 33 H35.5
UMLS 72 C2675458

Summaries for Usher Syndrome, Type Ih

OMIM : 57 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, type i and usher syndrome. An important gene associated with Usher Syndrome, Type Ih is USH1H (Usher Syndrome 1H (Autosomal Recessive)). Affiliated tissues include eye and retina.

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 29

Anatomical Context for Usher Syndrome, Type Ih

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

41
Eye, Retina

Publications for Usher Syndrome, Type Ih

Articles related to Usher Syndrome, Type Ih:

# Title Authors PMID Year
1
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. 38 8
18505454 2009
2
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. 8
23023331 2012
3
Usher syndrome: an otoneurologic study. 8
2909824 1989
4
Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. 38
20236115 2010

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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