USH1G gene related symptoms and diseases

All the information presented here about the USH1G gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to USH1G gene

Symptoms // Phenotype	% Cases
Hearing impairment	Very Common - Between 80% and 100% cases
Visual loss	Very Common - Between 80% and 100% cases
Rod-cone dystrophy	Very Common - Between 80% and 100% cases
Progressive visual loss	Very Common - Between 80% and 100% cases
Sensorineural hearing impairment	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with USH1G gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Vestibular dysfunction
Severe hearing impairment
Not very common - Between 30% and 50% cases
Iris hypopigmentation
Schizophrenia
Abnormal electroretinogram
Aplasia/Hypoplasia of the cerebellum
Decreased fertility
Scotoma

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to USH1G gene

Here you will find a list of rare diseases related to the USH1G. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

USHER SYNDROME, TYPE IG; USH1G

Description

Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. The syndrome is both clinically and genetically heterogeneous. Of the 3 different clinical types that have been described, USH1 (OMIM ), consisting of the association of profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa, is the most severe.

Most common symptoms of USHER SYNDROME, TYPE IG; USH1G

Hearing impairment
Sensorineural hearing impairment
Visual loss
Rod-cone dystrophy
Progressive visual loss

More info about USHER SYNDROME, TYPE IG; USH1G

SOURCES: MESH OMIM

USHER SYNDROME TYPE 1

Alternate names

USHER SYNDROME TYPE 1 Is also known as ush1, retinitis pigmentosa and congenital deafness, us1

Description

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 (OMIM ) 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 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

Most common symptoms of USHER SYNDROME TYPE 1

Intellectual disability
Global developmental delay
Hearing impairment
Ataxia
Sensorineural hearing impairment

More info about USHER SYNDROME TYPE 1

SOURCES: OMIM ORPHANET

Search interest in USH1G

Potential gene panels for USH1G gene

USH1G Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the USH1G gene.

USH1G gene related symptoms and diseases

Top 5 symptoms and clinical features associated to USH1G gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to USH1G gene

USHER SYNDROME, TYPE IG; USH1G

Description

Most common symptoms of USHER SYNDROME, TYPE IG; USH1G

USHER SYNDROME TYPE 1

Alternate names

Description

Most common symptoms of USHER SYNDROME TYPE 1

Search interest in USH1G

Potential gene panels for USH1G gene

USH1G Sequence Analysis (Prenatal Diagnosis) Panel

USH1G Sequence Analysis Panel

USH1G Deletion/Duplication Analysis Panel

USH1G Comprehensive - Sequence & Deletion/Duplication Analysis Panel

MitoMet®Plus aCGH Analysis Panel

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

NGS Hearing Loss Panel Panel

OtoSCOPE Panel

Hearing Loss Panel Panel

Ciliopathies Panel

OtoSeq Hearing Loss Panel by next-generation sequencing (NGS) Panel

Usher Syndrome Panel by next-generation sequencing Panel

USH1G sequencing Panel

OtoSeq Hearing Loss Deletion/Duplication Panel Panel

Usher Syndrome Deletion/Duplication Panel Panel

USH1G Deletion/duplication analysis Panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel

Audiome (hearing loss panel) Panel

Syndromic deafness (NGS panel for 62 genes) Panel

Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel

Usher syndrome (NGS panel for 12 genes) Panel

Usher Syndrome Sequencing Panel with CNV Detection Panel

Usher Syndrome Type 1 via USH1G Gene Sequencing with CNV Detection Panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

Syndromic Hearing Loss Panel Panel

Usher Syndrome Panel Panel

Usher Syndrome Panel

Sensorineural Hearing Loss Panel

Eye diseases comprehensive panel Panel

Retinal Dystrophy Panel Panel

USHER syndrome panel Panel

MVL Vision Panel Panel

Usher syndrome Panel

qCarrier Plus Panel

USHER SYNDROME and NON-SYNDROMIC DEAFNESS Panel

Eye Disorders: Comprehensive Sequencing Panel Panel

Usher Syndrome: Sequencing Panel Panel

Ciliopathies: Sequencing Panel Panel

Hearing Loss: Sequencing Panel Panel

Ciliopathies: Deletion/Duplication Panel Panel

Eye Disorders: Deletion/Duplication Panel Panel

Hearing Loss: Deletion/Duplication Panel Panel

Ciliopathies NGS Panel Panel

Hearing Loss NGS Panel Panel

Usher Syndrome NGS Panel Panel

USH1G Panel

Comprehensive Hearing Loss and Deafness Panel Panel

Retinal Dystrophy Panel Panel

Usher Syndrome Panel Panel

Syndromic Hearing Loss Panel Panel

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

USHER SYNDROME TYPE 1 Panel

USHER SYNDROME NGS PANEL Panel

Usher Syndrome and Nonsyndromic Deafness , Panel Massive Sequencing (NGS) 18 Genes Panel