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 58 13 74
Usher Syndrome Type 1k 12 15
Ush1k 58 12
Usher Syndrome, Type 1k 30
Usher Syndrome Type Ik 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
usher syndrome, type ik:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110837
OMIM 58 614990
ICD10 34 H35.5
MedGen 43 C3539124
SNOMED-CT via HPO 70 258211005 28835009
UMLS 74 C3539124

Summaries for Usher Syndrome, Type Ik

OMIM : 58 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, and related phenotypes are motor delay and rod-cone dystrophy

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

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:

33
# Description HPO Frequency HPO Source Accession
1 motor delay 33 HP:0001270
2 rod-cone dystrophy 33 HP:0000510
3 vestibular dysfunction 33 HP:0001751

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 FZD4 GJD4 PCDH15 RET

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 30

Anatomical Context for Usher Syndrome, Type Ik

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

42
Eye

Publications for Usher Syndrome, Type Ik

Articles related to Usher Syndrome, Type Ik:

# Title Authors Year
1
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. ( 22718019 )
2012

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

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

# Name GO ID Score Top Affiliating Genes
1 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.26 PCDH15 RET
2 neuron differentiation GO:0030182 9.16 FZD4 RET
3 sensory perception of sound GO:0007605 8.96 FZD4 PCDH15
4 cellular response to retinoic acid GO:0071300 8.62 FZD4 RET

Sources for Usher Syndrome, Type Ik

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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