MCID: USH030
MIFTS: 24

Usher Syndrome, Type Ik malady

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

Aliases & Classifications for Usher Syndrome, Type Ik

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Aliases & Descriptions for Usher Syndrome, Type Ik:

Name: Usher Syndrome, Type Ik 52 12 68
Usher Syndrome Type 1k 11 24 27 13
 
Ush1k 11 24
Usher Syndrome Type Ik 11

Characteristics:

HPO:

64
usher syndrome, type ik:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 614990
Disease Ontology11 DOID:0110837
ICD1030 H35.5

Summaries for Usher Syndrome, Type Ik

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OMIM:52 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with... (614990) more...

MalaCards based summary: Usher Syndrome, Type Ik, also known as usher syndrome type 1k, is related to usher syndrome, type 1b and usher syndrome, 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)).

Disease Ontology:11 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

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Symptoms & Phenotypes for Usher Syndrome, Type Ik

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Symptoms by clinical synopsis from OMIM:

614990

Clinical features from OMIM:

614990

Human phenotypes related to Usher Syndrome, Type Ik:

 64
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy64 HP:0000510
2 motor delay64 HP:0001270
3 vestibular dysfunction64 HP:0001751

Drugs & Therapeutics for Usher Syndrome, Type Ik

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Interventional clinical trials:

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

Genetic Tests for Usher Syndrome, Type Ik

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Genetic tests related to Usher Syndrome, Type Ik:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1k27
2 Usher Syndrome Type 1k24

Anatomical Context for Usher Syndrome, Type Ik

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Publications for Usher Syndrome, Type Ik

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Variations for Usher Syndrome, Type Ik

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Expression for genes affiliated with Usher Syndrome, Type Ik

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

Pathways for genes affiliated with Usher Syndrome, Type Ik

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GO Terms for genes affiliated with Usher Syndrome, Type Ik

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

idNameGO IDScoreTop Affiliating Genes
1homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071569.7PCDH15, RET
2cellular response to retinoic acidGO:00713009.7FZD4, RET
3neuron differentiationGO:00301829.6FZD4, RET
4sensory perception of soundGO:00076059.3FZD4, PCDH15

Sources for Usher Syndrome, Type Ik

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet