USH1H
MCID: USH043
MIFTS: 31

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 retinitis pigmentosa-deafness syndrome and deafness, autosomal recessive 48. 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 71)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 30.2 WHRN CDH23
2 deafness, autosomal recessive 48 29.3 WHRN PCDH15 MYO7A CIB2
3 branchiootic syndrome 1 29.0 WHRN USH2A USH1G MYO7A CDH23
4 usher syndrome, type i 28.2 WHRN USH2A USH1H USH1G USH1C PCDH15
5 usher syndrome 28.2 WHRN USH2A USH1H USH1G USH1C PCDH15
6 usher syndrome, type id 28.2 WHRN USH2A USH1G USH1C PCDH15 MYO7A
7 usher syndrome, type ij 26.1 WHRN USH2A USH1G USH1C PCDH15 MYO7A
8 retinitis pigmentosa 26.1 WHRN USH2A USH1G USH1C PCDH15 MYO7A
9 dfnb1 10.2 PCDH15 MYO7A
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
11 neuroretinitis 10.1
12 retinitis 10.1
13 y-linked monogenic disease 10.1 PCDH15 CDH23
14 deafness, autosomal dominant 6 10.1 MYO7A CDH23
15 deafness, autosomal recessive 83 10.1 MYO7A CDH23
16 deafness, autosomal dominant 65 10.0 WHRN PCDH15
17 nonsyndromic retinitis pigmentosa 10.0 USH2A CLRN1
18 deafness, autosomal dominant 36 10.0 PCDH15 CDH23
19 deafness, autosomal dominant 20 10.0 USH1G CDH23
20 deafness, autosomal dominant 48 10.0 MYO7A CIB2
21 acute hemorrhagic leukoencephalitis 9.9 USH1G MYO7A CDH23
22 deafness, autosomal recessive 67 9.9 PCDH15 CIB2
23 deafness, autosomal recessive 7 9.9 MYO7A CDH23
24 vestibular disease 9.9 PCDH15 MYO7A CDH23
25 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 9.9 PCDH15 CDH23
26 deafness, autosomal recessive 16 9.9 USH1C PCDH15 CDH23
27 deafness, autosomal dominant 56 9.9 WHRN USH2A
28 deafness, autosomal recessive 30 9.9 WHRN PCDH15 MYO7A
29 autosomal recessive nonsyndromic deafness 3 9.8 WHRN MYO7A CDH23
30 deafness, autosomal recessive 86 9.8 WHRN PCDH15 CDH23
31 yemenite deaf-blind hypopigmentation syndrome 9.7 USH2A MYO7A
32 stargardt disease 9.7 USH2A MYO7A CLRN1
33 deafness, autosomal recessive 100 9.7 MYO7A ADGRV1
34 deafness, autosomal recessive 62 9.7 CDH23 ADGRV1
35 deafness, autosomal recessive 18a 9.7 USH1C PCDH15 MYO7A CDH23
36 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 USH1C PCDH15 MYO7A CDH23
37 deafness, autosomal recessive 57 9.6 WHRN USH1C CIB2
38 choroid disease 9.6 USH2A MYO7A
39 autosomal recessive nonsyndromic deafness 9.6 WHRN PCDH15 MYO7A CDH23
40 nonsyndromic hearing loss 9.5 USH2A PCDH15 MYO7A CDH23
41 autosomal recessive nonsyndromic deafness 36 9.5 WHRN USH1C PCDH15 CDH23
42 deafness, autosomal recessive 9.5 WHRN USH1C PCDH15 CIB2
43 retinal degeneration 9.5 USH2A USH1C MYO7A CDH23
44 usher syndrome, type ik 9.4 PCDH15 CLRN1 CIB2 CDH23
45 late-onset retinal degeneration 9.3 WHRN USH2A ADGRV1
46 usher syndrome, type ig 9.3 WHRN USH1G USH1C PCDH15 CDH23
47 deafness, autosomal dominant 11 9.1 WHRN USH1G USH1C PCDH15 MYO7A CDH23
48 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.8 WHRN USH1C PCDH15 MYO7A CIB2 CDH23
49 usher syndrome, type ic 8.8 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
50 leber plus disease 8.8 WHRN USH2A MYO7A CLRN1 ADGRV1

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 9.91 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
2 hearing/vestibular/ear MP:0005377 9.85 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
3 nervous system MP:0003631 9.65 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
4 vision/eye MP:0005391 9.32 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15

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
The small EF-hand protein CALML4 functions as a critical myosin light chain within the intermicrovillar adhesion complex. 61
32209652 2020
5
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:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 WHRN USH2A USH1G USH1C PCDH15 CLRN1
2 cell projection GO:0042995 9.96 WHRN USH2A USH1C CIB2 ADGRV1
3 synapse GO:0045202 9.89 WHRN USH1C PCDH15 MYO7A ADGRV1
4 photoreceptor outer segment GO:0001750 9.73 USH1C PCDH15 MYO7A CIB2
5 photoreceptor connecting cilium GO:0032391 9.72 WHRN USH2A USH1G USH1C MYO7A
6 ciliary basal body GO:0036064 9.71 WHRN USH2A USH1G
7 microvillus GO:0005902 9.65 USH1C MYO7A CLRN1
8 periciliary membrane compartment GO:1990075 9.58 WHRN USH2A ADGRV1
9 stereocilia ankle link complex GO:0002142 9.56 WHRN USH2A USH1C ADGRV1
10 stereocilium tip GO:0032426 9.55 WHRN USH1C
11 USH2 complex GO:1990696 9.54 WHRN USH2A ADGRV1
12 stereocilium bundle GO:0032421 9.51 WHRN USH2A
13 photoreceptor inner segment GO:0001917 9.5 WHRN USH2A USH1G USH1C MYO7A CIB2
14 stereocilium membrane GO:0060171 9.46 USH2A ADGRV1
15 stereocilia ankle link GO:0002141 9.46 WHRN USH2A USH1C ADGRV1
16 stereocilium GO:0032420 9.23 WHRN USH1C PCDH15 MYO7A CLRN1 CIB2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.88 USH2A PCDH15 MYO7A CLRN1 CDH23 ADGRV1
2 response to stimulus GO:0050896 9.87 USH2A CLRN1 CDH23 ADGRV1
3 equilibrioception GO:0050957 9.8 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
4 inner ear receptor cell stereocilium organization GO:0060122 9.8 WHRN USH1G USH1C PCDH15 MYO7A CDH23
5 photoreceptor cell maintenance GO:0045494 9.76 USH2A USH1G USH1C PCDH15 CLRN1 CIB2
6 actin filament organization GO:0007015 9.73 PCDH15 MYO7A CLRN1
7 inner ear morphogenesis GO:0042472 9.71 USH1G USH1C MYO7A
8 inner ear development GO:0048839 9.69 PCDH15 MYO7A ADGRV1
9 establishment of protein localization GO:0045184 9.67 WHRN USH2A ADGRV1
10 auditory receptor cell stereocilium organization GO:0060088 9.67 WHRN PCDH15 MYO7A CLRN1
11 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.65 WHRN PCDH15 ADGRV1
12 inner ear auditory receptor cell differentiation GO:0042491 9.63 USH1C PCDH15 MYO7A
13 inner ear receptor cell differentiation GO:0060113 9.61 USH2A USH1G MYO7A
14 sensory perception of light stimulus GO:0050953 9.61 WHRN USH2A USH1G USH1C PCDH15 MYO7A
15 inner ear receptor cell development GO:0060119 9.55 WHRN USH1C
16 maintenance of animal organ identity GO:0048496 9.52 USH2A ADGRV1
17 sensory perception of sound GO:0007605 9.28 WHRN USH2A USH1G USH1C PCDH15 MYO7A

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 PCDH15 CIB2 CDH23 ADGRV1
2 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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