MCID: MND005
MIFTS: 17

Mondini Dysplasia

Categories: Ear diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Mondini Dysplasia

MalaCards integrated aliases for Mondini Dysplasia:

Name: Mondini Dysplasia 20 29
Familial Nonsyndromal Mondini Dysplasia 20

Classifications:



Summaries for Mondini Dysplasia

GARD : 20 Mondini dysplasia is a type of inner ear malformation that is present at birth ( congenital ). Individuals with Mondini dysplasia have one and a half coils of the cochlea instead of the normal two coils. It may occur in one ear (unilateral) or both ears (bilateral) and can cause varying degrees of sensorineural hearing loss, although most individuals have profound hearing loss. The condition can also predispose affected individuals to recurrent meningitis. It is caused by disruption in the embryonic development of the inner ear during the seventh week of gestation. The condition may be isolated (occurring with no other conditions or malformations) or may occur with other ear malformations or a number of syndromes. Treatment options may include surgical repair of the defect to prevent recurrent meningitis; amplification aids for those with residual hearing; and cochlear implantation.

MalaCards based summary : Mondini Dysplasia, also known as familial nonsyndromal mondini dysplasia, is related to deafness, autosomal recessive 4, with enlarged vestibular aqueduct and meningitis. An important gene associated with Mondini Dysplasia is SLC26A4 (Solute Carrier Family 26 Member 4).

Wikipedia : 73 Mondini dysplasia, also known as Mondini malformation and Mondini defect, is an abnormality of the inner... more...

Related Diseases for Mondini Dysplasia

Graphical network of the top 20 diseases related to Mondini Dysplasia:



Diseases related to Mondini Dysplasia

Symptoms & Phenotypes for Mondini Dysplasia

Drugs & Therapeutics for Mondini Dysplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of Familial Nonsyndromal Mondini Dysplasia Completed NCT00004336

Search NIH Clinical Center for Mondini Dysplasia

Genetic Tests for Mondini Dysplasia

Genetic tests related to Mondini Dysplasia:

# Genetic test Affiliating Genes
1 Mondini Dysplasia 29

Anatomical Context for Mondini Dysplasia

Publications for Mondini Dysplasia

Articles related to Mondini Dysplasia:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Mondini malformation associated with diastematomyelia and presenting with recurrent meningitis. 20 61
21421905 2011
2
Recurrent meningitis with Mondini dysplasia after the operation and vaccination. 61 20
20500457 2010
3
Recurrent bacterial meningitis in a child with mondini dysplasia. 61 20
19074357 2009
4
Mondini dysplasia and pyogenic meningitis. 20 61
15280618 2004
5
Cochlear implantation in Mondini dysplasia. 20 61
12624505 2003
6
Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3. 61 20
10979118 2000
7
Familial Mondini dysplasia. 20 61
9738759 1998
8
Cochlear implantation in children with Mondini dysplasia: our experience. 61
33568241 2021
9
Peristapedial bulb: an indicator of spontaneous CSF leak in cochlear candidates with Mondini dysplasia. 61
33641594 2021
10
Cerebrospinal fluid gusher in cochlear implant and its associated factors. 61
32329639 2020
11
Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss. 61
30842343 2019
12
Recurrent Streptococcus pneumoniae meningitis and Mondini dysplasia: Association or causation? 61
29706315 2019
13
Speech development in young children with Mondini dysplasia who had undergone cochlear implantation. 61
30554681 2019
14
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. 61
29739340 2018
15
Erratum: Utility of magnetic resonance cisternography with intrathecal gadolinium in detection of cerebrospinal fluid fistula associated with Mondini dysplasia in a patient with recurrent meningitis: Case report and literature review. 61
30009082 2018
16
Utility of magnetic resonance cisternography with intrathecal gadolinium in detection of cerebrospinal fluid fistula associated with Mondini dysplasia in a patient with recurrent meningitis: Case report and literature review. 61
29770252 2018
17
Pilot study of large-scale production of mutant pigs by ENU mutagenesis. 61
28639938 2017
18
Peripheral vestibular pathology in Mondini dysplasia. 61
27075694 2017
19
[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. 61
29372807 2017
20
Mondini dysplasia with recurrent bacterial meningitis caused by three different pathogens. 61
26542099 2015
21
Cerebrospinal fluid otorrhea and pseudomonal meningitis in a child with Mondini dysplasia: case report. 61
26201554 2015
22
[Clinical analysis of Mondini dysplasia with cerebrospinal fluid leakage and preliminary genetic research of it]. 61
26595997 2015
23
Recurrent Streptococcus Pneumoniae Meningitis in a Child with Split Hand and Foot Malformation and Undiagnosed Mondini Dysplasia. 61
26640357 2015
24
There is something in the ear: mondini dysplasia. 61
24929334 2014
25
[Malformations and abnormalities of the petrous portion of the temporal bone]. 61
24706250 2014
26
The development of auditory skills in young children with Mondini dysplasia after cochlear implantation. 61
25247792 2014
27
Recurrent bacterial meningitis in a child with mondini dysplasia. 61
25431719 2014
28
Use of the translabyrinthine approach to repair congenital spontaneous cerebrospinal fluid leakage in five Chinese patients with Mondini dysplasia. 61
24120183 2013
29
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. 61
23965030 2013
30
Cerebrospinal fluid otorrhea and recurrent bacterial meningitis in a pediatric case with Mondini dysplasia. 61
23521415 2013
31
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia. 61
23168687 2013
32
Mondini dysplasia presenting as otorrhea without meningitis. 61
23276442 2012
33
Etiology of unilateral hearing loss in a national hereditary deafness repository. 61
22534022 2012
34
Mondini dysplasia as a cause for recurrent bacterial meningitis: an early diagnosis. 61
22290862 2012
35
Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation. 61
22412181 2012
36
Recurrent bacterial meningitis in a child with hearing impairment, mondini dysplasia: a case report. 61
23456530 2012
37
[Clinical approach of trans-horizontal semicircular canal and vestibule for treatment of Mondini dysplasia with cerebrospinal fluid leakage]. 61
22509687 2012
38
[Investigation of SLC26A4 mutations associated with inner ear malformations]. 61
22509691 2012
39
Recurrent bacterial meningitis associated with Mondini dysplasia. 61
22036227 2011
40
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 61
21961810 2011
41
Cochlear implantation in Pendred syndrome. 61
21917203 2011
42
Cochlear implants in forty-eight children with cochlear and/or vestibular abnormality. 61
20980742 2011
43
Mondini dysplasia with paradoxical cerebrospinal fluid rhinorrhea. 61
21109092 2010
44
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. 61
20621367 2010
45
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). 61
20597900 2010
46
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. 61
20186814 2010
47
A case of Mondini dysplasia with recurrent Streptococcus pneumoniae meningitis. 61
19259698 2009
48
[Cochlear implant for malformations of the inner ear]. 61
19452138 2009
49
Delineating the hearing loss in children with enlarged vestibular aqueduct. 61
18665003 2008
50
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. 61
19040761 2008

Variations for Mondini Dysplasia

Expression for Mondini Dysplasia

Search GEO for disease gene expression data for Mondini Dysplasia.

Pathways for Mondini Dysplasia

GO Terms for Mondini Dysplasia

Sources for Mondini Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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