MYO7A gene related symptoms and diseases

All the information presented here about the MYO7A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, 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 MYO7A gene

Symptoms // Phenotype	% Cases
Hearing impairment	Common - Between 50% and 80% cases
Rod-cone dystrophy	Common - Between 50% and 80% cases
Sensorineural hearing impairment	Common - Between 50% and 80% cases
Vestibular dysfunction	Uncommon - Between 30% and 50% cases
Visual loss	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MYO7A gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Subcortical cerebral atrophy
Hemianopia
Iris hypopigmentation
Aplasia/Hypoplasia of the cerebellum
Abnormal electroretinogram
Schizophrenia
Abnormality of dental enamel
Hallucinations

And 43 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MYO7A gene

Here you will find a list of rare diseases related to the MYO7A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2

Alternate names

DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 Is also known as nsrd2, neurosensory nonsyndromic recessive deafness 2

Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2

Hearing impairment
Sensorineural hearing impairment
Rod-cone dystrophy
Vertigo
Retinal degeneration

More info about DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2

SOURCES: OMIM MESH

DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11

Description

Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by Sun et al., 2011).

Most common symptoms of DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11

Hearing impairment
Sensorineural hearing impairment
Edema
Rod-cone dystrophy
Vertigo

More info about DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11

SOURCES: OMIM MESH

USHER SYNDROME TYPE 2

Alternate names

USHER SYNDROME TYPE 2 Is also known as ush2

Description

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

Most common symptoms of USHER SYNDROME TYPE 2

Hearing impairment
Ataxia
Nystagmus
Sensorineural hearing impairment
Cataract

More info about USHER SYNDROME TYPE 2

SOURCES: ORPHANET 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

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA

Alternate names

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA Is also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, autosomal dominant isolated sensorineural deafness type dfna, autosomal dominant isolated sensorineural hearing loss type dfna, autosomal dominant isolated neurosensory deafness type dfna

More info about AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA

SOURCES: ORPHANET

AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB

Alternate names

AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB Is also known as autosomal recessive isolated sensorineural deafness type dfnb, autosomal recessive isolated neurosensory deafness type dfnb, autosomal recessive non-syndromic neurosensory deafness type dfnb

More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB

SOURCES: ORPHANET

Search interest in MYO7A

Potential gene panels for MYO7A gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

MYO7A gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MYO7A gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to MYO7A gene

DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2

Alternate names

Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2

DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11

Description

Most common symptoms of DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11

USHER SYNDROME TYPE 2

Alternate names

Description

Most common symptoms of USHER SYNDROME TYPE 2

USHER SYNDROME TYPE 1

Alternate names

Description

Most common symptoms of USHER SYNDROME TYPE 1

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA

Alternate names

AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB

Alternate names

Search interest in MYO7A

Potential gene panels for MYO7A gene

MitoMet®Plus aCGH Analysis Panel

MYO7A Sequence Analysis Panel

MYO7A Sequence Analysis (Familial Mutation/Variant Analysis) Panel

MYO7A Sequence Analysis (Prenatal Diagnosis) Panel

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

NGS Hearing Loss Panel Panel

OtoSCOPE Panel

Hearing Loss Panel Panel

Ciliopathies Panel

MYO7A Sequencing Panel

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

Usher Syndrome Panel by next-generation sequencing Panel

OtoSeq Hearing Loss Deletion/Duplication Panel Panel

Usher Syndrome Deletion/Duplication Panel Panel

MYO7A Deletion/duplication analysis Panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel

MYO7A. Complete sequencing Panel

Audiome (hearing loss panel) Panel

Syndromic deafness (NGS panel for 62 genes) Panel

Non syndromic deafness AD (NGS panel for 33 genes) Panel

Non syndromic deafness AR and XL (NGS panel for 56 genes) Panel

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

Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel

Usher syndrome (NGS panel for 12 genes) Panel

Usher syndrome type 1B (sequence analysis of MYO7A gene) Panel

Usher Syndrome Sequencing Panel with CNV Detection Panel

Usher Syndrome Type 1, Deafness, Autosomal Dominant 11 (DFNA11) and Deafness, Autosomal Recessive 2 (DFNB2) via MYO7A Gene Sequencing with CNV Detection Panel

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

Leber congenital amaurosis and related disorders Comprehensive panel Panel

Leber congenital amaurosis and related disorders Deletion / Duplication panel Panel

Leber congenital amaurosis and related disorders NGS panel Panel

Usher 1 Panel Panel

DFNB 2 Nonsyndromic Hearing Loss and Deafness Panel

DFNA11 Nonsyndromic Hearing Loss and Deafness Panel

Usher Syndrome Type 1B Panel

Deafness type 2 Panel

Deafness, non-syndromic sensorineural AR panel Panel

Deafness, autosomal dominant type 11 Panel

Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel Panel

Syndromic Hearing Loss Panel Panel

Hearing Loss, nonsyndromic, autosomal dominant and X-linked 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

Deafness, autosomal dominant 11 Panel

Deafness, autosomal recessive 2 Panel

Usher Syndrome 1B Panel