MCID: USH030
MIFTS: 28

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 57 13 73
Usher Syndrome Type 1k 12 15
Ush1k 57 12
Usher Syndrome, Type 1k 29
Usher Syndrome Type Ik 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

OMIM 57 614990
Disease Ontology 12 DOID:0110837
ICD10 33 H35.5
MedGen 42 C3539124
SNOMED-CT via HPO 69 258211005 28835009
UMLS 73 C3539124

Summaries for Usher Syndrome, Type Ik

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). (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 bone, 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

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 motor delay 32 HP:0001270
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:

# 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:

41
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:

# 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

Molecular functions related to Usher Syndrome, Type Ik according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 8.62 FZD4 RET

Sources for Usher Syndrome, Type Ik

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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