MCID: USH030
MIFTS: 27

Usher Syndrome, Type Ik

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

Aliases & Classifications for Usher Syndrome, Type Ik

MalaCards integrated aliases for Usher Syndrome, Type Ik:

Name: Usher Syndrome, Type Ik 54 13 69
Usher Syndrome Type 1k 12 24 14
Ush1k 12 24
Usher Syndrome, Type 1k 29
Usher Syndrome Type Ik 12

Characteristics:

OMIM:

54
Miscellaneous:
two pakistani families have been reported (last curated december 2012)
onset at birth

Inheritance:
autosomal recessive


HPO:

32
usher syndrome, type ik:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 614990
Disease Ontology 12 DOID:0110837
ICD10 33 H35.5
SNOMED-CT via HPO 65 258211005 28835009

Summaries for Usher Syndrome, Type Ik

OMIM : 54
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 1b, and has symptoms including motor delay, rod-cone dystrophy 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

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
delayed motor development

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

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


Clinical features from OMIM:

614990

Human phenotypes related to Usher Syndrome, Type Ik:

32
id Description HPO Frequency HPO Source Accession
1 motor delay 32 HP:0001270
2 rod-cone dystrophy 32 HP:0000510
3 vestibular dysfunction 32 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:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1k 29
2 Usher Syndrome Type 1k 24

Anatomical Context for Usher Syndrome, Type Ik

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

39
Bone

Publications for Usher Syndrome, Type Ik

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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....