USH1H
MCID: USH043
MIFTS: 30

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 56 71
Usher Syndrome, Type 1h 56 29 13
Usher Syndrome Type 1h 12 15
Ush1h 56 12
Usher Syndrome Type Ih 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110835
OMIM 56 612632
OMIM Phenotypic Series 56 PS276900
ICD10 32 H35.5
UMLS 71 C2675458

Summaries for Usher Syndrome, Type Ih

OMIM : 56 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 deafness, autosomal recessive 48 and retinitis pigmentosa-deafness syndrome. An important gene associated with Usher Syndrome, Type Ih is USH1H (Usher Syndrome 1H (Autosomal Recessive)). Affiliated tissues include eye and retina, and related phenotypes are behavior/neurological and hearing/vestibular/ear

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

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome, Type Iv
Usher Syndrome, Type 1m Usher Syndrome Type 2
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome, Type Ih via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 48 29.3 WHRN MYO7A CIB2
2 retinitis pigmentosa-deafness syndrome 29.0 WHRN PCDH15 MYO7A CDH23
3 branchiootic syndrome 1 29.0 WHRN USH1G MYO7A CDH23
4 usher syndrome, type i 28.8 WHRN USH1H USH1G USH1C PCDH15 MYO7A
5 usher syndrome 28.8 WHRN USH1H USH1G USH1C PCDH15 MYO7A
6 usher syndrome, type id 28.8 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
7 usher syndrome, type ij 26.8 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
8 retinitis pigmentosa 26.8 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
10 neuroretinitis 10.1
11 retinitis 10.1
12 dfnb1 10.1 PCDH15 MYO7A
13 deafness, autosomal dominant 17 10.0 PCDH15 MYO7A
14 acute hemorrhagic leukoencephalitis 10.0 USH1G CDH23
15 deafness, autosomal dominant 48 10.0 MYO7A CIB2
16 drug-induced hearing loss 10.0 MYO7A CDH23
17 deafness, autosomal dominant 9 10.0 PCDH15 MYO7A
18 deafness, autosomal recessive 83 10.0 MYO7A CDH23
19 deafness, autosomal dominant 20 9.9 USH1G CDH23
20 deafness, autosomal dominant 36 9.9 PCDH15 CDH23
21 deafness, autosomal dominant 25 9.9 USH1C MYO7A
22 deafness, autosomal dominant 40 9.8 PCDH15 CDH23
23 vestibular disease 9.7 PCDH15 MYO7A CDH23
24 deafness, autosomal recessive 16 9.7 USH1C PCDH15 CDH23
25 hodgkin's lymphoma, nodular sclerosis 9.7 MYO7A CDH23
26 perrault syndrome 9.6 PCDH15 CLRN1 CDH23
27 deafness, autosomal recessive 30 9.5 WHRN PCDH15 MYO7A
28 autosomal recessive nonsyndromic deafness 36 9.5 WHRN USH1C PCDH15
29 usher syndrome, type ig 9.5 USH1G USH1C PCDH15 CDH23
30 autosomal recessive nonsyndromic deafness 3 9.4 WHRN MYO7A CDH23
31 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 USH1C PCDH15 MYO7A CDH23
32 usher syndrome, type iia 9.4 WHRN USH1C CDH23
33 baraitser-winter syndrome 9.3 WHRN CIB2 CDH23
34 usher syndrome, type ik 9.3 PCDH15 CLRN1 CIB2 CDH23
35 retinal degeneration 9.2 USH1C MYO7A CDH23
36 deafness, autosomal recessive 9.2 WHRN USH1C PCDH15 CIB2
37 autosomal recessive nonsyndromic deafness 9.2 WHRN PCDH15 MYO7A CDH23
38 usher syndrome, type iiib 9.1 WHRN USH1G MYO7A CLRN1
39 deafness, autosomal recessive 31 9.0 WHRN USH1G CLRN1 CIB2
40 bardet-biedl syndrome 8.8 WHRN USH1C PCDH15 MYO7A CDH23
41 retinal disease 8.7 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
42 deafness, autosomal recessive 23 8.6 WHRN USH1G USH1C PCDH15 MYO7A CDH23
43 deafness, autosomal dominant 11 8.6 WHRN USH1G USH1C PCDH15 MYO7A CDH23
44 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.4 WHRN USH1C PCDH15 MYO7A CIB2 CDH23
45 rare genetic deafness 8.4 WHRN USH1C PCDH15 MYO7A CLRN1 CDH23
46 deafness, autosomal recessive 2 8.2 WHRN USH1G USH1C PCDH15 MYO7A CIB2
47 auditory system disease 8.2 WHRN USH1G USH1C PCDH15 MYO7A CIB2
48 sensorineural hearing loss 8.2 WHRN USH1G USH1C PCDH15 MYO7A CIB2
49 deafness, autosomal recessive 12 8.1 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
50 usher syndrome, type ic 8.1 WHRN USH1G USH1C PCDH15 MYO7A CLRN1

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

MGI Mouse Phenotypes related to Usher Syndrome, Type Ih:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 CDH23 CIB2 CLRN1 MYO7A PCDH15 USH1C
2 hearing/vestibular/ear MP:0005377 9.76 CDH23 CIB2 CLRN1 MYO7A PCDH15 USH1C
3 nervous system MP:0003631 9.56 CDH23 CIB2 CLRN1 MYO7A PCDH15 USH1C
4 vision/eye MP:0005391 9.23 CDH23 CIB2 CLRN1 MYO7A PCDH15 USH1C

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:

40
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. 61 56
18505454 2009
2
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. 56
23023331 2012
3
Usher syndrome: an otoneurologic study. 56
2909824 1989
4
Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. 61
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

Cellular components related to Usher Syndrome, Type Ih according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.02 WHRN USH1G USH1C PCDH15 CLRN1 CIB2
2 synapse GO:0045202 9.76 WHRN USH1C PCDH15 MYO7A
3 photoreceptor outer segment GO:0001750 9.56 USH1C PCDH15 MYO7A CIB2
4 microvillus GO:0005902 9.54 USH1C MYO7A CLRN1
5 photoreceptor connecting cilium GO:0032391 9.46 WHRN USH1G USH1C MYO7A
6 stereocilium tip GO:0032426 9.43 WHRN USH1C
7 stereocilia ankle link complex GO:0002142 9.4 WHRN USH1C
8 photoreceptor inner segment GO:0001917 9.35 WHRN USH1G USH1C MYO7A CIB2
9 stereocilia ankle link GO:0002141 9.32 WHRN USH1C
10 stereocilium GO:0032420 9.17 WHRN USH1C PCDH15 MYO7A CLRN1 CIB2

Biological processes related to Usher Syndrome, Type Ih according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.87 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
2 visual perception GO:0007601 9.73 PCDH15 MYO7A CLRN1 CDH23
3 photoreceptor cell maintenance GO:0045494 9.73 USH1G USH1C PCDH15 CLRN1 CIB2 CDH23
4 auditory receptor cell stereocilium organization GO:0060088 9.67 WHRN PCDH15 MYO7A CLRN1
5 inner ear morphogenesis GO:0042472 9.63 USH1G USH1C MYO7A
6 inner ear receptor cell stereocilium organization GO:0060122 9.63 WHRN USH1G USH1C PCDH15 MYO7A CDH23
7 inner ear auditory receptor cell differentiation GO:0042491 9.58 USH1C PCDH15 MYO7A
8 inner ear development GO:0048839 9.51 PCDH15 MYO7A
9 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.49 WHRN PCDH15
10 inner ear receptor cell differentiation GO:0060113 9.48 USH1G MYO7A
11 equilibrioception GO:0050957 9.43 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
12 sensory perception of light stimulus GO:0050953 9.17 WHRN USH1G USH1C PCDH15 MYO7A CLRN1

Molecular functions related to Usher Syndrome, Type Ih according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.35 WHRN USH1G MYO7A CIB2 CDH23
2 protein-containing complex binding GO:0044877 9.33 PCDH15 MYO7A CIB2
3 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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