DFNMYP
MCID: DFN256
MIFTS: 30

Deafness and Myopia (DFNMYP)

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

Aliases & Classifications for Deafness and Myopia

MalaCards integrated aliases for Deafness and Myopia:

Name: Deafness and Myopia 56 12 25 73 36 29 6 71
High Myopia-Sensorineural Deafness Syndrome 12 52 25 58
Deafness and Myopia Syndrome 12 24 52 25
Dfnmyp 56 12 25 73
High Myopia and Sensorineural Deafness 25
Deafness, Cochlear, Plus 25
Myopia and Deafness 25

Characteristics:

Orphanet epidemiological data:

58
high myopia-sensorineural deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
deafness and myopia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111628
OMIM 56 221200
KEGG 36 H02355
MeSH 43 D006319
ICD10 via Orphanet 33 H90.5
Orphanet 58 ORPHA363396
UMLS 71 C3806275

Summaries for Deafness and 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). Affected individuals also have severe nearsightedness (high myopia). These individuals are able to see nearby objects clearly, but objects that are farther away appear blurry. The myopia is usually diagnosed by early childhood.

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, eye and thyroid, and related phenotypes are intellectual disability and proteinuria

Disease Ontology : 12 A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has material basis in homozygous or compound heterozygous mutation in SLITRK6 on chromosome 13q31.1.

NIH Rare Diseases : 52 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.

KEGG : 36 Deafness and myopia (DFNMYP) is severe congenital myopia and sensorineural hearing loss in the absence of other systemic, ocular, or connective tissue manifestations. DFNMYP is caused by mutations in SLITRK6. SLITRK family proteins control neurite outgrowth and regulate synaptic development.

UniProtKB/Swiss-Prot : 73 Deafness and myopia: An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia.

More information from OMIM: 221200
GeneReviews: NBK269029

Related Diseases for Deafness and Myopia

Graphical network of the top 20 diseases related to Deafness and Myopia:



Diseases related to Deafness and Myopia

Symptoms & Phenotypes for Deafness and Myopia

Human phenotypes related to Deafness and Myopia:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 proteinuria 31 HP:0000093
3 hematuria 31 HP:0000790
4 conductive hearing impairment 31 HP:0000405
5 high myopia 31 HP:0011003
6 profound hearing impairment 31 HP:0012715

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
high myopia

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

Clinical features from OMIM:

221200

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:

40
Brain, Eye, Thyroid

Publications for Deafness and Myopia

Articles related to Deafness and Myopia:

(show all 14)
# Title Authors PMID Year
1
SLITRK6 mutations cause myopia and deafness in humans and mice. 24 56 6
23543054 2013
2
A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans. 24 6
23946138 2014
3
Deafness and Myopia Syndrome 61 6
25590127 2015
4
CONGENITAL RENAL DISEASE, DEAFNESS AND MYOPIA IN ONE FAMILY. 61 56
14042467 1963
5
Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice. 56
21298075 2011
6
Cochlear deafness, myopia, and intellectual impairment in an Amish family. 56
5660029 1968
7
Novel candidate genes of thyroid tumourigenesis identified in Trk-T1 transgenic mice. 24
22454401 2012
8
Cochlear implantation in children with auditory neuropathy spectrum disorder: long-term outcomes. 24
22284837 2012
9
Selective control of inhibitory synapse development by Slitrk3-PTPδ trans-synaptic interaction. 24
22286174 2012
10
Differential expression of Slitrk family members in the mouse nervous system. 24
19924824 2009
11
Disorganized innervation and neuronal loss in the inner ear of Slitrk6-deficient mice. 24
19936227 2009
12
Slitrk6 expression profile in the mouse embryo and its relationship to that of Nlrr3. 24
14643680 2003
13
Identification and characterization of Slitrk, a novel neuronal transmembrane protein family controlling neurite outgrowth. 24
14550773 2003
14
A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family. 61
29551497 2018

Variations for Deafness and Myopia

ClinVar genetic disease variations for Deafness and Myopia:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLITRK6 NM_032229.3(SLITRK6):c.1240C>T (p.Gln414Ter)SNV Pathogenic 88860 rs587777069 13:86369404-86369404 13:85795269-85795269
2 SLITRK6 NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter)SNV Pathogenic 88861 rs587777070 13:86369754-86369754 13:85795619-85795619
3 SLITRK6 NM_032229.3(SLITRK6):c.541C>T (p.Arg181Ter)SNV Pathogenic 88862 rs587777071 13:86370103-86370103 13:85795968-85795968
4 SLITRK6 NM_032229.3(SLITRK6):c.1904G>A (p.Arg635His)SNV Uncertain significance 592101 rs79624852 13:86368740-86368740 13:85794605-85794605

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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