MCID: DFN256
MIFTS: 25

Deafness and Myopia

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

Aliases & Classifications for Deafness and Myopia

MalaCards integrated aliases for Deafness and Myopia:

Name: Deafness and Myopia 57 25 75 29 6 73
High Myopia-Sensorineural Deafness Syndrome 53 25 59
Deafness and Myopia Syndrome 24 53 25
Dfnmyp 57 25 75
High Myopia and Sensorineural Deafness 25
Deafness, Cochlear, Plus 25
Myopia and Deafness 25

Characteristics:

Orphanet epidemiological data:

59
high myopia-sensorineural deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
deafness and myopia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 221200
Orphanet 59 ORPHA363396
ICD10 via Orphanet 34 H90.5
MeSH 44 D006319
UMLS 73 C3806275

Summaries for Deafness and Myopia

NIH Rare Diseases : 53 Deafness and myopia syndrome is rare condition that affects both hearing and vision. Beginning at birth or in early infancy, people with this condition have moderate to profound hearing loss in both ears that generally becomes worse over time. Affected people also develop severe myopia (nearsightedness) later in infancy or early childhood. Deafness and myopia syndrome is caused by changes (mutations) in the SLITRK6 gene and is inherited in an autosomal recessive manner. Treatment aims to improve hearing loss and correct myopia. Cochlear implantation may be an option for some affected people.

MalaCards based summary : Deafness and Myopia, also known as high myopia-sensorineural deafness syndrome, is related to epiphyseal dysplasia of femoral head, myopia, and deafness and epiphyseal dysplasia, multiple, with myopia and conductive deafness. An important gene associated with Deafness and Myopia is SLITRK6 (SLIT And NTRK Like Family Member 6). Affiliated tissues include brain and eye, and related phenotypes are proteinuria and conductive hearing impairment

UniProtKB/Swiss-Prot : 75 Deafness and myopia: An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia.

Genetics Home Reference : 25 Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be caused by auditory neuropathy, which is a problem with the transmission of sound (auditory) signals from the inner ear to the brain. The hearing loss is either present at birth (congenital) or begins in infancy, before the child learns to speak (prelingual).

Description from OMIM: 221200
GeneReviews: NBK269029

Related Diseases for Deafness and Myopia

Diseases related to Deafness and Myopia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epiphyseal dysplasia of femoral head, myopia, and deafness 12.0
2 epiphyseal dysplasia, multiple, with myopia and conductive deafness 11.2
3 myopia 9.9

Symptoms & Phenotypes for Deafness and Myopia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, prelingual sensorineural, moderate to severe
symmetric deterioration of hearing loss and speech reception with age
severe to profound hearing impairment by early adulthood
absent distortion product otoacoustic emissions (oaes)
absent ipsilateral middle ear muscle reflexes (in older patients)
more
Head And Neck Eyes:
high myopia


Clinical features from OMIM:

221200

Human phenotypes related to Deafness and Myopia:

32
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 conductive hearing impairment 32 HP:0000405
3 hematuria 32 HP:0000790
4 intellectual disability 32 HP:0001249
5 high myopia 32 HP:0011003

Drugs & Therapeutics for Deafness and Myopia

Search Clinical Trials , NIH Clinical Center for Deafness and Myopia

Genetic Tests for Deafness and Myopia

Genetic tests related to Deafness and Myopia:

# Genetic test Affiliating Genes
1 Deafness and Myopia 29 SLITRK6

Anatomical Context for Deafness and Myopia

MalaCards organs/tissues related to Deafness and Myopia:

41
Brain, Eye

Publications for Deafness and Myopia

Articles related to Deafness and Myopia:

# Title Authors Year
1
A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family. ( 29551497 )
2018
2
Deafness and Myopia Syndrome ( 25590127 )
1993

Variations for Deafness and Myopia

ClinVar genetic disease variations for Deafness and Myopia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLITRK6 NM_032229.2(SLITRK6): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs587777069 GRCh37 Chromosome 13, 86369404: 86369404
2 SLITRK6 NM_032229.2(SLITRK6): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs587777069 GRCh38 Chromosome 13, 85795269: 85795269
3 SLITRK6 NM_032229.2(SLITRK6): c.890C> A (p.Ser297Ter) single nucleotide variant Pathogenic rs587777070 GRCh37 Chromosome 13, 86369754: 86369754
4 SLITRK6 NM_032229.2(SLITRK6): c.890C> A (p.Ser297Ter) single nucleotide variant Pathogenic rs587777070 GRCh38 Chromosome 13, 85795619: 85795619
5 SLITRK6 NM_032229.2(SLITRK6): c.541C> T (p.Arg181Ter) single nucleotide variant Pathogenic rs587777071 GRCh37 Chromosome 13, 86370103: 86370103
6 SLITRK6 NM_032229.2(SLITRK6): c.541C> T (p.Arg181Ter) single nucleotide variant Pathogenic rs587777071 GRCh38 Chromosome 13, 85795968: 85795968

Expression for Deafness and Myopia

Search GEO for disease gene expression data for Deafness and Myopia.

Pathways for Deafness and Myopia

GO Terms for Deafness and Myopia

Sources for Deafness and Myopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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