MCID: USH030
MIFTS: 28

Usher Syndrome, Type Ik

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

Aliases & Classifications for Usher Syndrome, Type Ik

MalaCards integrated aliases for Usher Syndrome, Type Ik:

Name: Usher Syndrome, Type Ik 53 13 69
Usher Syndrome Type 1k 12 14
Ush1k 53 12
Usher Syndrome, Type 1k 28
Usher Syndrome Type Ik 12

Characteristics:

OMIM:

53
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:

OMIM 53 614990
Disease Ontology 12 DOID:0110837
ICD10 32 H35.5
MedGen 39 C3539124
SNOMED-CT via HPO 65 258211005 28835009
UMLS 69 C3539124

Summaries for Usher Syndrome, Type Ik

OMIM : 53 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, and has symptoms including rod-cone dystrophy, motor delay and vestibular dysfunction. An important gene associated with Usher Syndrome, Type Ik is USH1K (Usher Syndrome 1K (Autosomal Recessive)). Affiliated tissues include bone.

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

Symptoms & Phenotypes for Usher Syndrome, Type Ik

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
deafness, sensorineural, profound
vestibular dysfunction

Neurologic Central Nervous System:
delayed motor development

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


Clinical features from OMIM:

614990

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

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 28

Anatomical Context for Usher Syndrome, Type Ik

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

38
Bone

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 sensory perception of sound GO:0007605 9.16 FZD4 PCDH15
3 neuron differentiation GO:0030182 8.96 FZD4 RET
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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