MCID: DFN308
MIFTS: 21

Deafness, Progressive, with Stapes Fixation

Categories: Bone diseases, Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Deafness, Progressive, with Stapes Fixation

MalaCards integrated aliases for Deafness, Progressive, with Stapes Fixation:

Name: Deafness, Progressive, with Stapes Fixation 56
Progressive Deafness with Stapes Fixation 52 58
Stapedo-Vestibular Ankylosis 52 58
Thies-Reis Syndrome 52 58
Deafness, Progressive with Stapes Fixation 29
Thies Reis Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
progressive deafness with stapes fixation
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
deafness, progressive, with stapes fixation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 601449
ICD10 via Orphanet 33 H74.3
UMLS via Orphanet 72 C1832354 C1844678
Orphanet 58 ORPHA3235
MedGen 41 C1832354
SNOMED-CT via HPO 68 194417009 258211005

Summaries for Deafness, Progressive, with Stapes Fixation

NIH Rare Diseases : 52 Progressive deafness with stapes fixation , also known as Thies Reis syndrome , is a form of conductive or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated, sound waves cannot pass through to the inner ear, resulting in loss of hearing. This condition may be associated with a number of conditions, including otosclerosis , Paget's disease and osteogenesis imperfecta , or it may be found in isolation. It may also result from chronic ear infections (otitis media with tympanosclerosis ). The progression of hearing loss is generally slow, rarely profound, and usually resolves following treatment. Conductive hearing loss can be restored through surgery or hearing aids. Sensorineural hearing loss can be managed with hearing aids or cochlear implants .

MalaCards based summary : Deafness, Progressive, with Stapes Fixation, also known as progressive deafness with stapes fixation, is related to ankylosis and meniere disease. Affiliated tissues include bone, and related phenotypes are bilateral conductive hearing impairment and stapes ankylosis

More information from OMIM: 601449

Related Diseases for Deafness, Progressive, with Stapes Fixation

Diseases related to Deafness, Progressive, with Stapes Fixation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ankylosis 10.8
2 meniere disease 10.4
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
4 otosclerosis 10.4
5 bone inflammation disease 10.4
6 mammary paget's disease 10.4

Graphical network of the top 20 diseases related to Deafness, Progressive, with Stapes Fixation:



Diseases related to Deafness, Progressive, with Stapes Fixation

Symptoms & Phenotypes for Deafness, Progressive, with Stapes Fixation

Human phenotypes related to Deafness, Progressive, with Stapes Fixation:

31
# Description HPO Frequency HPO Source Accession
1 bilateral conductive hearing impairment 31 HP:0008513
2 stapes ankylosis 31 HP:0000381

Symptoms via clinical synopsis from OMIM:

56
Ears:
stapes fixation
bilateral conductive hearing loss

Misc:
onset age 8 to 24 years

Clinical features from OMIM:

601449

Drugs & Therapeutics for Deafness, Progressive, with Stapes Fixation

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hearing Aid Versus Surgical Rehabilitation as Treatment of Otosclerosis: Pilot Study Completed NCT02456272

Search NIH Clinical Center for Deafness, Progressive, with Stapes Fixation

Genetic Tests for Deafness, Progressive, with Stapes Fixation

Genetic tests related to Deafness, Progressive, with Stapes Fixation:

# Genetic test Affiliating Genes
1 Deafness, Progressive with Stapes Fixation 29

Anatomical Context for Deafness, Progressive, with Stapes Fixation

MalaCards organs/tissues related to Deafness, Progressive, with Stapes Fixation:

40
Bone

Publications for Deafness, Progressive, with Stapes Fixation

Articles related to Deafness, Progressive, with Stapes Fixation:

# Title Authors PMID Year
1
Possible autosomal recessive inheritance of progressive hearing loss with stapes fixation. 56
8818948 1996
2
Stapedius tendon ossification: a rare cause of congenital conductive hearing loss. 56
1919348 1991
3
[Stapedo-Vestibular Ankylosis: Retrospective Study of Five Cases in São Tomé e Príncipe]. 61
29268065 2017
4
[Minor aplasia of the ear: anatomical findings and results of functional surgery]. 61
7645900 1994
5
[Ankylosis of the malleus head. Etiology, therapeutic indications and results]. 61
3706970 1986
6
[Stapedo-vestibular ankylosis associated with osteopathy of the promontory (author's transl)]. 61
315750 1979
7
[A peculiar stapedo-vestibular ankylosis]. 61
158066 1979
8
[Stapedo-vestibular ankylosis]. 61
919039 1977
9
[Diagnosis of the unilateral stapedo-vestibular ankylosis syndrome]. 61
123937 1975
10
[Association of Meniere's disease with a stapedo-vestibular ankylosis]. 61
5351224 1969

Variations for Deafness, Progressive, with Stapes Fixation

Expression for Deafness, Progressive, with Stapes Fixation

Search GEO for disease gene expression data for Deafness, Progressive, with Stapes Fixation.

Pathways for Deafness, Progressive, with Stapes Fixation

GO Terms for Deafness, Progressive, with Stapes Fixation

Sources for Deafness, Progressive, with Stapes Fixation

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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