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 57 71
Usher Syndrome, Type 1h 57 29 13
Usher Syndrome Type 1h 12 15
Ush1h 57 12
Usher Syndrome Type Ih 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110835
OMIM® 57 612632
OMIM Phenotypic Series 57 PS276900
ICD10 32 H35.5
UMLS 71 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) (Updated 05-Mar-2021)

MalaCards based summary : Usher Syndrome, Type Ih, also known as usher syndrome, type 1h, is related to usher syndrome, type id and branchiootic syndrome 1. 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 68)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type id 29.3 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
2 branchiootic syndrome 1 29.2 WHRN USH1G MYO7A CDH23
3 deafness, autosomal recessive 48 29.2 WHRN MYO7A CIB2
4 usher syndrome 28.8 WHRN USH1H USH1G USH1C PCDH15 MYO7A
5 usher syndrome, type i 28.6 WHRN USH1H USH1G USH1C PCDH15 MYO7A
6 retinitis pigmentosa-deafness syndrome 28.1 WHRN USH1C PCDH15 MYO7A CLRN1 CDH23
7 retinitis pigmentosa 27.2 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
8 usher syndrome, type ij 27.2 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
9 dfnb1 10.1 PCDH15 MYO7A
10 y-linked monogenic disease 10.1 PCDH15 CDH23
11 acute hemorrhagic leukoencephalitis 10.1 USH1G CDH23
12 deafness, autosomal recessive 83 10.0 MYO7A CDH23
13 deafness, autosomal dominant 6 10.0 MYO7A CDH23
14 deafness, autosomal dominant 20 10.0 USH1G CDH23
15 deafness, autosomal dominant 65 10.0 WHRN PCDH15
16 deafness, autosomal recessive 100 10.0 MYO7A ADGRV1
17 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.0 PCDH15 CDH23
18 deafness, autosomal recessive 7 10.0 MYO7A CDH23
19 deafness, autosomal dominant 36 10.0 PCDH15 CDH23
20 deafness, autosomal recessive 62 9.9 CDH23 ADGRV1
21 neuroretinitis 9.9
22 retinitis 9.9
23 deafness, autosomal recessive 9 9.9 MYO7A CDH23
24 deafness, autosomal dominant 48 9.9 MYO7A CIB2
25 vestibular disease 9.9 PCDH15 MYO7A CDH23
26 deafness, autosomal recessive 67 9.9 PCDH15 CIB2
27 non-syndromic genetic deafness 9.9 MYO7A CDH23
28 nonsyndromic hearing loss 9.9 PCDH15 MYO7A CDH23
29 autosomal recessive nonsyndromic deafness 36 9.8 WHRN USH1C PCDH15
30 deafness, autosomal recessive 30 9.8 WHRN PCDH15 MYO7A
31 deafness, autosomal recessive 86 9.8 WHRN PCDH15 CDH23
32 autosomal recessive nonsyndromic deafness 3 9.7 WHRN MYO7A CDH23
33 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 USH1G PCDH15 MYO7A
34 deafness, autosomal recessive 18a 9.7 USH1C PCDH15 MYO7A CDH23
35 inner ear disease 9.7 USH1C PCDH15 MYO7A CDH23
36 late-onset retinal degeneration 9.6 WHRN ADGRV1
37 stickler syndrome 9.6 WHRN USH1C PCDH15 CDH23
38 autosomal recessive nonsyndromic deafness 9.5 WHRN PCDH15 MYO7A CDH23
39 deafness, autosomal recessive 57 9.5 WHRN CIB2 ADGRV1
40 usher syndrome, type ik 9.4 PCDH15 CLRN1 CIB2 CDH23
41 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.3 WHRN USH1C PCDH15 MYO7A CDH23
42 usher syndrome, type ic 9.3 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
43 deafness, autosomal recessive 31 9.3 WHRN CLRN1 CIB2 ADGRV1
44 deafness, autosomal recessive 9.3 WHRN USH1G USH1C PCDH15 CIB2
45 leber plus disease 9.3 WHRN USH1C MYO7A CLRN1 ADGRV1
46 usher syndrome, type ig 9.2 WHRN USH1G USH1C PCDH15 MYO7A CDH23
47 cone-rod dystrophy 2 9.1 USH1C PCDH15 MYO7A CLRN1 CDH23 ADGRV1
48 usher syndrome, type iia 9.1 WHRN USH1C PCDH15 MYO7A CDH23 ADGRV1
49 retinal disease 9.0 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
50 usher syndrome, type iiib 9.0 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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Usher Syndrome, Type Ih:

46
# 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 9.81 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
3 nervous system MP:0003631 9.61 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
4 vision/eye MP:0005391 9.28 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. 57 61
18505454 2009
2
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. 57
23023331 2012
3
Usher syndrome: an otoneurologic study. 57
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 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.11 WHRN USH1G USH1C PCDH15 CLRN1 CIB2
2 synapse GO:0045202 9.88 WHRN USH1C PCDH15 MYO7A ADGRV1
3 photoreceptor outer segment GO:0001750 9.62 USH1C PCDH15 MYO7A CIB2
4 microvillus GO:0005902 9.61 USH1C MYO7A CLRN1
5 stereocilium tip GO:0032426 9.49 WHRN USH1C
6 periciliary membrane compartment GO:1990075 9.46 WHRN ADGRV1
7 photoreceptor connecting cilium GO:0032391 9.46 WHRN USH1G USH1C MYO7A
8 stereocilia ankle link complex GO:0002142 9.43 WHRN USH1C ADGRV1
9 photoreceptor inner segment GO:0001917 9.43 WHRN USH1G USH1C MYO7A CIB2 ADGRV1
10 USH2 complex GO:1990696 9.4 WHRN ADGRV1
11 stereocilia ankle link GO:0002141 9.37 WHRN ADGRV1
12 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 13)
# Name GO ID Score Top Affiliating Genes
1 inner ear receptor cell stereocilium organization GO:0060122 9.8 WHRN USH1G USH1C MYO7A CDH23 ADGRV1
2 equilibrioception GO:0050957 9.73 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
3 visual perception GO:0007601 9.71 MYO7A CLRN1 CDH23 ADGRV1
4 photoreceptor cell maintenance GO:0045494 9.7 USH1G USH1C PCDH15 CLRN1 CIB2 CDH23
5 inner ear morphogenesis GO:0042472 9.63 USH1G USH1C MYO7A
6 inner ear development GO:0048839 9.61 PCDH15 MYO7A ADGRV1
7 sensory perception of light stimulus GO:0050953 9.56 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
8 auditory receptor cell stereocilium organization GO:0060088 9.54 WHRN MYO7A CLRN1
9 establishment of protein localization GO:0045184 9.52 WHRN ADGRV1
10 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.51 WHRN ADGRV1
11 inner ear receptor cell differentiation GO:0060113 9.49 USH1G MYO7A
12 inner ear auditory receptor cell differentiation GO:0042491 9.48 USH1C MYO7A
13 sensory perception of sound GO:0007605 9.23 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 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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