USH1K
MCID: USH030
MIFTS: 29

Usher Syndrome, Type Ik (USH1K)

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

Aliases & Classifications for Usher Syndrome, Type Ik

MalaCards integrated aliases for Usher Syndrome, Type Ik:

Name: Usher Syndrome, Type Ik 56 13 71
Usher Syndrome Type 1k 12 15
Ush1k 56 12
Usher Syndrome, Type 1k 29
Usher Syndrome Type Ik 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two pakistani families have been reported (last curated december 2012)


HPO:

31
usher syndrome, type ik:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110837
OMIM 56 614990
OMIM Phenotypic Series 56 PS276900
ICD10 32 H35.5
MedGen 41 C3539124
SNOMED-CT via HPO 68 258211005 28835009
UMLS 71 C3539124

Summaries for Usher Syndrome, Type Ik

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). (614990)

MalaCards based summary : Usher Syndrome, Type Ik, also known as usher syndrome type 1k, is related to usher syndrome and usher syndrome, type i. An important gene associated with Usher Syndrome, Type Ik is USH1K (Usher Syndrome 1K (Autosomal Recessive)). Affiliated tissues include eye, bone and retina, and related phenotypes are rod-cone dystrophy and motor delay

Disease Ontology : 12 An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.

Related Diseases for Usher Syndrome, Type Ik

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 Ik via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 30.6 USH1K PCDH15 CLRN1 CIB2 CDH23
2 usher syndrome, type i 30.4 USH1K PCDH15 CLRN1 CIB2 CDH23
3 deafness, autosomal recessive 33 30.2 LRRC18 GJD4
4 retinitis pigmentosa-deafness syndrome 30.1 PCDH15 CDH23
5 retinitis pigmentosa 28.6 PCDH15 CLRN1 CIB2 CDH23
6 branchiootic syndrome 1 10.1
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
8 neuroretinitis 10.1
9 retinitis 10.1
10 deafness, autosomal recessive 10.1 PCDH15 CIB2
11 deafness, autosomal recessive 96 10.0 LRRC18 GJD4
12 deafness, autosomal dominant 36 9.9 PCDH15 CDH23
13 deafness, autosomal recessive 16 9.9 PCDH15 CDH23
14 deafness, autosomal dominant 11 9.9 PCDH15 CDH23
15 usher syndrome, type ig 9.9 PCDH15 CDH23
16 deafness, autosomal dominant 40 9.8 PCDH15 CDH23
17 vestibular disease 9.8 PCDH15 CDH23
18 baraitser-winter syndrome 9.7 CIB2 CDH23
19 autosomal recessive nonsyndromic deafness 9.7 PCDH15 CDH23
20 deafness, autosomal recessive 31 9.7 CLRN1 CIB2
21 deafness, autosomal recessive 2 9.6 PCDH15 CIB2 CDH23
22 auditory system disease 9.6 PCDH15 CIB2 CDH23
23 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 PCDH15 CIB2 CDH23
24 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 PCDH15 CDH23
25 usher syndrome, type ic 9.4 PCDH15 CLRN1 CDH23
26 deafness, autosomal recessive 12 9.4 PCDH15 CLRN1 CDH23
27 perrault syndrome 9.3 PCDH15 CLRN1 CDH23
28 rare genetic deafness 9.3 PCDH15 CLRN1 CDH23
29 deafness, autosomal recessive 23 9.3 PCDH15 LRRC18 GJD4 CDH23
30 sensorineural hearing loss 9.2 PCDH15 CIB2 CDH23
31 retinal disease 9.2 PCDH15 CLRN1 CDH23
32 usher syndrome, type ih 9.0 PCDH15 CLRN1 CIB2 CDH23
33 usher syndrome, type ij 9.0 PCDH15 CLRN1 CIB2 CDH23
34 usher syndrome, type iid 9.0 PCDH15 CLRN1 CIB2 CDH23
35 usher syndrome, type if 9.0 PCDH15 CLRN1 CIB2 CDH23
36 usher syndrome, type iic 9.0 PCDH15 CLRN1 CIB2 CDH23
37 usher syndrome, type id 9.0 PCDH15 CLRN1 CIB2 CDH23
38 usher syndrome type 2 9.0 PCDH15 CLRN1 CIB2 CDH23
39 usher syndrome, type iiia 9.0 PCDH15 CLRN1 CIB2 CDH23
40 autosomal dominant nonsyndromic deafness 9.0 PCDH15 CLRN1 CIB2 CDH23
41 nonsyndromic deafness 9.0 PCDH15 CLRN1 CIB2 CDH23
42 fundus dystrophy 8.9 PCDH15 CLRN1 CIB2 CDH23

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



Diseases related to Usher Syndrome, Type Ik

Symptoms & Phenotypes for Usher Syndrome, Type Ik

Human phenotypes related to Usher Syndrome, Type Ik:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 motor delay 31 HP:0001270
3 vestibular dysfunction 31 HP:0001751

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
vestibular dysfunction
deafness, sensorineural, profound

Head And Neck Eyes:
retinitis pigmentosa
bone spicules
narrowing of retinal blood vessels
waxy appearance of optic disc

Neurologic Central Nervous System:
delayed motor development

Clinical features from OMIM:

614990

MGI Mouse Phenotypes related to Usher Syndrome, Type Ik:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 CDH23 CIB2 CLRN1 PCDH15

Drugs & Therapeutics for Usher Syndrome, Type Ik

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

Genetic Tests for Usher Syndrome, Type Ik

Genetic tests related to Usher Syndrome, Type Ik:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 1k 29

Anatomical Context for Usher Syndrome, Type Ik

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

40
Eye, Bone, Retina

Publications for Usher Syndrome, Type Ik

Articles related to Usher Syndrome, Type Ik:

# Title Authors PMID Year
1
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. 61 56
22718019 2012
2
Usher syndrome: an otoneurologic study. 56
2909824 1989

Variations for Usher Syndrome, Type Ik

Expression for Usher Syndrome, Type Ik

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

Pathways for Usher Syndrome, Type Ik

GO Terms for Usher Syndrome, Type Ik

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 PCDH15 CIB2
2 stereocilium GO:0032420 8.92 PCDH15 CLRN1 CIB2 CDH23

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.58 PCDH15 CLRN1 CDH23
2 sensory perception of sound GO:0007605 9.5 PCDH15 CLRN1 CDH23
3 actin filament organization GO:0007015 9.46 PCDH15 CLRN1
4 locomotory behavior GO:0007626 9.43 PCDH15 CDH23
5 inner ear receptor cell stereocilium organization GO:0060122 9.37 PCDH15 CDH23
6 sensory perception of light stimulus GO:0050953 9.33 PCDH15 CLRN1 CDH23
7 auditory receptor cell stereocilium organization GO:0060088 9.26 PCDH15 CLRN1
8 equilibrioception GO:0050957 9.13 PCDH15 CLRN1 CDH23
9 photoreceptor cell maintenance GO:0045494 8.92 PCDH15 CLRN1 CIB2 CDH23

Sources for Usher Syndrome, Type Ik

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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