MCID: USH007
MIFTS: 37

Usher Syndrome, Type 1c malady

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

Aliases & Classifications for Usher Syndrome, Type 1c

About this section

Aliases & Descriptions for Usher Syndrome, Type 1c:

Name: Usher Syndrome, Type 1c 49 11 45
Ush1c 45 22 67
Usher's Syndrome Type 1c 67 24
Usher Syndrome Type I Acadian Variety 67
Usher Syndrome, Acadian Variety 45
Usher Syndrome, Type Ic 65
 
Acadian Usher Syndrome 67
Usher Syndrome Type 1c 22
Usher Syndrome Type Ic 67
Usher Syndrome 1c 67
Ush 1c 22

Characteristics:

HPO:

61
usher syndrome, type 1c:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 276904
MedGen34 C1848604
MeSH36 D052245
UMLS65 C1848604

Summaries for Usher Syndrome, Type 1c

About this section
OMIM:49 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with... (276904) more...

MalaCards based summary: Usher Syndrome, Type 1c, also known as ush1c, is related to deafness, autosomal recessive 18a and usher syndrome, and has symptoms including congenital sensorineural hearing impairment, vestibular hypofunction and rod-cone dystrophy. An important gene associated with Usher Syndrome, Type 1c is USH1C (USH1 Protein Network Component Harmonin). Affiliated tissues include breast and eye, and related mouse phenotype hearing/vestibular/ear.

NIH Rare Diseases:45 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. three major types of usher syndrome have been described - types i, ii, and iii.  the different types are distinguished by their severity and the age when signs and symptoms appear. all three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. last updated: 3/3/2014

UniProtKB/Swiss-Prot:67 Usher syndrome 1C: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

Related Diseases for Usher Syndrome, Type 1c

About this section

Diseases in the Usher Syndrome family:

Usher Syndrome, Type 2a Usher Syndrome, Type 3a
Usher Syndrome, Type 2c Usher Syndrome Type 3b
Usher Syndrome, Type 2d Usher Syndrome, Type Ik
Usher Syndrome, Type 1d Usher Syndrome, Type 1f
usher syndrome, type 1c Usher Syndrome, Type 1b
Usher Syndrome, Type Ij Usher Syndrome, Type 1g
Usher Syndrome Type Ii Usher Syndrome, Type 2b
Usher Syndrome Type 1h Usher Syndrome Type 1j
Usher Syndrome Type 1k

Diseases related to Usher Syndrome, Type 1c via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1deafness, autosomal recessive 18a30.6LNX1, MYO7A, USH1C, USH1G, USHBP1
2usher syndrome11.6
3usher syndrome, type 1b11.6
4deafness, autosomal recessive11.5
5retinitis pigmentosa11.4
6retinal degeneration11.4
7autoimmune enteropathy11.4
8usher syndrome, type 1d11.3
9usher syndrome, type 1f11.3
10usher syndrome, type 1g11.3
11bardet-biedl syndrome11.3
12auditory system disease11.2
13inner ear disease11.2
14nonsyndromic hearing loss and deafness, autosomal recessive11.2
15dfnb18 nonsyndromic hearing loss and deafness11.2
16autosomal recessive non-syndromic sensorineural deafness type dfnb11.2
17polycystic kidney disease10.4
18hypertriglyceridemia10.4
19heart disease10.4
20priapism10.4
21sickle cell disease10.4
22leukemia10.3
23lymphoblastic leukemia10.3
24hypospadias10.3
25embryonal carcinoma10.3
26neuronitis10.3
27prostate cancer10.2
28anorexia nervosa10.2
29nephrotic syndrome10.2
30esophagitis10.2
31porphyria10.2
32prostatitis10.2
33granular cell tumor10.2
34cervicitis10.2
35adenocarcinoma10.2
36hypokalemia10.2
37malignant peripheral nerve sheath tumor10.2
38congenital porphyria10.2
39tetraploidy10.2
40autoimmune gastrointestinal dysmotility10.0LNX1, USH1C
41pulmonary tuberculosis9.8MYO7A, USH1C
42pyeloureteritis cystica9.7MYO7A, USH1C
43self-healing papular mucinosis9.7MYO7A, USH1C
44deafness, autosomal recessive 29.6MYO7A, USH1C, USH1G
45influenza9.6MYO7A, USH1C
46deafness, autosomal recessive 239.5MYO7A, USH1C, USH1G
47amelogenesis imperfecta, type ig9.5MYO7A, USH1C, USH1G
48familial partial lipodystrophy9.5MYO7A, USH1C, USH1G
49sacrococcygeal teratoma9.4MYO7A, USH1C, USH1G

Graphical network of the top 20 diseases related to Usher Syndrome, Type 1c:



Diseases related to usher syndrome, type 1c

Symptoms for Usher Syndrome, Type 1c

About this section

Symptoms by clinical synopsis from OMIM:

276904

Clinical features from OMIM:

276904

HPO human phenotypes related to Usher Syndrome, Type 1c:

id Description Frequency HPO Source Accession
1 congenital sensorineural hearing impairment HP:0008527
2 vestibular hypofunction HP:0001756
3 rod-cone dystrophy HP:0000510

Drugs & Therapeutics for Usher Syndrome, Type 1c

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Usher Syndrome, Type 1c

Genetic Tests for Usher Syndrome, Type 1c

About this section

Genetic tests related to Usher Syndrome, Type 1c:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 1c22 USH1C

Anatomical Context for Usher Syndrome, Type 1c

About this section

MalaCards organs/tissues related to Usher Syndrome, Type 1c:

33
Breast, Eye

Animal Models for Usher Syndrome, Type 1c or affiliated genes

About this section

MGI Mouse Phenotypes related to Usher Syndrome, Type 1c:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9MYO7A, USH1C, USH1G

Publications for Usher Syndrome, Type 1c

About this section

Articles related to Usher Syndrome, Type 1c:

idTitleAuthorsYear
1
Clinicopathological characteristics of odontogenic myxoma in nigerians. (22669829)
2011
2
Striatal Amphetamine-induced Dopamine Release in Schizotypal Personality Disorder. (15717985)
2005
3
Ral GTPases: corrupting the exocyst in cancer cells. (15953551)
2005
4
Hormone receptor measurements and survival in 1335 consecutive patients with primary invasive breast carcinoma. (9538134)
1998
5
Seminoma and squamous cell carcinomas in association with lymphopenia. (7727306)
1995

Variations for Usher Syndrome, Type 1c

About this section

Clinvar genetic disease variations for Usher Syndrome, Type 1c:

5
id Gene Variation Type Significance SNP ID Assembly Location
1USH1CNM_005709.3(USH1C): c.308G> A (p.Arg103His)single nucleotide variantPathogenicrs397514500GRCh37Chr 11, 17552780: 17552780
2USH1CUSH1C, IVS16AS, G-T, -1single nucleotide variantPathogenic
3USH1CUSH1C, 1-BP DEL, 1220GdeletionPathogenic
4USH1CUSH1C, IVS5AS, A DEL, -2deletionPathogenic
5USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
6USH1CNM_005709.3(USH1C): c.496+59_496+103[9]NT expansionPathogenicrs387906330GRCh37Chr 11, 17548667: 17548711
7USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)single nucleotide variantPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
8USH1CUSH1C, IVS1DS, G-T, +1single nucleotide variantPathogenic
9USH1CUSH1C, IVS5DS, G-A, +1single nucleotide variantPathogenic
10USH1CNM_005709.3(USH1C): c.91C> T (p.Arg31Ter)single nucleotide variantPathogenicrs121908370GRCh37Chr 11, 17554815: 17554815

Expression for genes affiliated with Usher Syndrome, Type 1c

About this section
Search GEO for disease gene expression data for Usher Syndrome, Type 1c.

Pathways for genes affiliated with Usher Syndrome, Type 1c

About this section

GO Terms for genes affiliated with Usher Syndrome, Type 1c

About this section

Molecular functions related to Usher Syndrome, Type 1c according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.4MYO7A, USH1C
2PDZ domain bindingGO:00301659.4LNX1, USHBP1

Sources for Usher Syndrome, Type 1c

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet