MCID: USH022
MIFTS: 38

Usher Syndrome, Type 1g malady

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

Aliases & Classifications for Usher Syndrome, Type 1g

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Aliases & Descriptions for Usher Syndrome, Type 1g:

Name: Usher Syndrome, Type 1g 49 11
Usher's Syndrome Type 1g 67 24
Ush1g 22 67
Usher Syndrome, Type Ig 65
 
Usher Syndrome Type Ig 67
Usher Syndrome Type 1g 22
Usher Syndrome 1g 67
Ush 1g 22

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM49 606943
MedGen34 C1847089
MeSH36 D052245
UMLS65 C1847089

Summaries for Usher Syndrome, Type 1g

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UniProtKB/Swiss-Prot:67 Usher syndrome 1G: 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.

MalaCards based summary: Usher Syndrome, Type 1g, also known as usher's syndrome type 1g, is related to usher syndrome and usher syndrome, type 1b, and has symptoms including sensorineural hearing impairment, rod-cone dystrophy and vestibular dysfunction. An important gene associated with Usher Syndrome, Type 1g is USH1G (USH1 Protein Network Component Sans). Affiliated tissues include bone, heart and eye, and related mouse phenotypes are adipose tissue and vision/eye.

OMIM:49 Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive... (606943) more...

Related Diseases for Usher Syndrome, Type 1g

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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 1g via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome11.8
2usher syndrome, type 1b11.6
3usher syndrome, type 1f11.4
4usher syndrome, type 1c11.4
5retinitis pigmentosa11.4
6gastric cancer10.3
7fabry disease10.3
8budd-chiari syndrome10.3
9neuromyelitis optica10.3
10ulcerative colitis10.3
11colitis10.3
12japanese encephalitis10.3
13encephalitis10.3
14tetraploidy10.3
15dhdds-cdg9.7MYO7A, PCDH15
16influenza9.7MYO7A, USH1C
17deafness, autosomal recessive 129.6CDH23, PCDH15, USH1C
18deafness, autosomal recessive 18a9.5MYO7A, USH1C, USH1G
19embryonal testis carcinoma9.5MYO7A, PCDH15
20intermittent squint9.4CDH23, PCDH15, USH1C
21pulmonary tuberculosis9.4CDH23, MYO7A, USH1C
22autosomal dominant nonsyndromic deafness9.3CDH23, MYO7A, PCDH15
23deafness, autosomal recessive 239.2MYO7A, PCDH15, USH1C, USH1G
24pyeloureteritis cystica9.1CDH23, MYO7A, PCDH15, USH1C
25self-healing papular mucinosis9.1CDH23, MYO7A, PCDH15, USH1C
26deafness, autosomal recessive 28.9CDH23, MYO7A, PCDH15, USH1C, USH1G
27amelogenesis imperfecta, type ig8.9CDH23, MYO7A, PCDH15, USH1C, USH1G
28familial partial lipodystrophy8.9CDH23, MYO7A, PCDH15, USH1C, USH1G
29sacrococcygeal teratoma8.8CDH23, MYO7A, PCDH15, USH1C, USH1G

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



Diseases related to usher syndrome, type 1g

Symptoms for Usher Syndrome, Type 1g

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Symptoms by clinical synopsis from OMIM:

606943

Clinical features from OMIM:

606943

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

id Description Frequency HPO Source Accession
1 sensorineural hearing impairment HP:0000407
2 rod-cone dystrophy HP:0000510
3 vestibular dysfunction HP:0001751
4 hypoplasia of the nasal bone HP:0004646

Drugs & Therapeutics for Usher Syndrome, Type 1g

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Interventional clinical trials:

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

Genetic Tests for Usher Syndrome, Type 1g

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Genetic tests related to Usher Syndrome, Type 1g:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 1g22 USH1G

Anatomical Context for Usher Syndrome, Type 1g

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

33
Bone, Heart, Eye

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.4CDH23, MYO7A, USH1C
2MP:00053917.7CDH23, MYO7A, PCDH15, USH1C, USH1G
3MP:00053867.6CDH23, MYO7A, PCDH15, USH1C, USH1G
4MP:00036317.5CDH23, MYO7A, PCDH15, USH1C, USH1G
5MP:00053777.5CDH23, MYO7A, PCDH15, USH1C, USH1G

Publications for Usher Syndrome, Type 1g

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Articles related to Usher Syndrome, Type 1g:

idTitleAuthorsYear
1
Abnormalities of the coronary arteries, neural structures and conduction system of the heart observed postmortem in the eosinophilia-myalgia syndrome, with a discussion of comparative findings from the toxic oil syndrome. (2130570)
1991

Variations for Usher Syndrome, Type 1g

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UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 1g:

67
id Symbol AA change Variation ID SNP ID
1USH1Gp.Leu48ProVAR_023739
2USH1Gp.Asp458ValVAR_060468

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1USH1GNM_173477.4(USH1G): c.143T> C (p.Leu48Pro)single nucleotide variantPathogenicrs104894651GRCh37Chr 17, 72919026: 72919026
2USH1GNM_173477.4(USH1G): c.186_187delCA (p.Ile63Leufs)deletionPathogenicrs730880268GRCh37Chr 17, 72916744: 72916745
3USH1GNM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs)deletionPathogenicrs397515345GRCh37Chr 17, 72916080: 72916099
4USH1GNM_173477.4(USH1G): c.394dupG (p.Val132Glyfs)duplicationPathogenicrs587776546GRCh37Chr 17, 72916537: 72916537
5USH1GNM_173477.4(USH1G): c.113G> A (p.Trp38Ter)single nucleotide variantPathogenicrs104894652GRCh37Chr 17, 72919056: 72919056
6USH1GUSH1G, 15-BP DEL, NT163deletionPathogenic
7USH1GNM_173477.4(USH1G): c.1373A> T (p.Asp458Val)single nucleotide variantLikely pathogenicrs397517925GRCh37Chr 17, 72915558: 72915558
8PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
9PCDH15NM_033056.3(PCDH15): c.394dupG (p.Glu132Glyfs)duplicationPathogenicrs397515566GRCh37Chr 10, 56128960: 56128960

Expression for genes affiliated with Usher Syndrome, Type 1g

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Search GEO for disease gene expression data for Usher Syndrome, Type 1g.

Pathways for genes affiliated with Usher Syndrome, Type 1g

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

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Cellular components related to Usher Syndrome, Type 1g according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057378.2MYO7A, PCDH15, USH1C, USH1G

Biological processes related to Usher Syndrome, Type 1g according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:00454949.3CDH23, PCDH15
2sensory perception of light stimulusGO:00509538.8CDH23, PCDH15, USH1C

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.1MYO7A, USH1C

Sources for Usher Syndrome, Type 1g

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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