ORPHA:90641
Mitochondrial non-syndromic sensorineural deafness
Synonyms: Isolated mitochondrial neurosensory deafness · Isolated mitochondrial neurosensory hearing loss · Isolated mitochondrial sensorineural deafness · Isolated mitochondrial sensorineural hearing loss · Mitochondrial non-syndromic neurosensory deafness · Mitochondrial non-syndromic neurosensory hearing loss · Mitochondrial non-syndromic sensorineural hearing loss
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Childhood, Infancy
- Status
- active
This disease is described under Rare non-syndromic genetic deafness
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial non-syndromic sensorineural deafness | Isolated mitochondrial neurosensory deafness · Isolated mitochondrial neurosensory hearing loss · Isolated mitochondrial sensorineural deafness · Isolated mitochondrial sensorineural hearing loss · Mitochondrial non-syndromic neurosensory deafness · Mitochondrial non-syndromic neurosensory hearing loss · Mitochondrial non-syndromic sensorineural hearing loss |
| fr | Surdité neurosensorielle non syndromique mitochondriale | Surdité de perception isolée mitochondriale · Surdité de perception non syndromique mitochondriale · Surdité neurosensorielle mitochondriale isolée |
| de | Mitochondriale nicht-syndromale Schwerhörigkeit | Hörverlust, isolierter neurosensorischer, mitochondrial bedingter · Mitochondriale isolierte sensorineurale Taubheit · Mitochondrialer isolierter neurosensorischer Hörverlust · Mitochondriale nicht-syndromale neurosensorische Taubheit · Mitochondriale nicht-syndromale sensorineurale Schwerhörigkeit · Isolierte mitochondriale sensorineurale Schwerhörigkeit |
| es | Sordera neurosensorial mitocondrial no sindrómica | Hipoacusia neurosensorial mitocondrial aislada · Hipoacusia neurosensorial mitocondrial no sindrómica · Sordera neurosensorial mitocondrial aislada · Sordera neurosensorial mitocondrial no sindrómica |
| it | Sordità neurosensoriale mitocondriale non sindromica | Sordità neurosensoriale mitocondriale isolata · Perdita dell'udito neurosensoriale mitocondriale isolata · Perdita dell'udito neurosensoriale mitocondriale non sindromica |
| nl | Mitochondriale niet-syndromale sensorineurale doofheid | Geïsoleerd mitochondriaal neurosensorisch gehoorverlies · Geïsoleerd mitochondriaal sensorineuraal gehoorverlies · Geïsoleerde mitochondriale neurosensorische doofheid · Geïsoleerde mitochondriale sensorineurale doofheid · Mitochondriaal niet-syndromaal neurosensorisch gehoorverlies · Mitochondriaal niet-syndromaal sensorineuraal gehoorverlies · Mitochondriale niet-syndromale neurosensorische doofheid |
| pt | Surdez neurossensorial não-sindromática rara mitocondrial | Perda auditiva neurossensorial isolada mitocondrial · Perda auditiva neurossensorial não-sindromática mitocondrial · Surdez neurossensorial isolada mitocondrial · Surdez neurossensorial não-sindromática mitocondrial |
| pl | Mitochondrialna niesyndromiczna głuchota czuciowo-nerwowa | Izolowana mitochondrialna głuchota czuciowo-nerwowa · Izolowana mitochondrialna głuchota nerwowo-czuciowa · Rzadka mitochondrialna niesyndromiczna głuchota czuciowo-nerwowa |
| cs | Mitochondriální nesyndromová senzorineurální hluchota | Izolovaná mitochondriální senzorineurální hluchota |
| uk | Рідкісна мітохондріальна несиндромальна сенсоневральна глухота | Ізольована мітохондріальна нейросенсорна глухота · Ізольована мітохондріальна нейросенсорна приглухуватість · Ізольована мітохондріальна сенсоневральна глухота · Ізольована мітохондріальна сенсоневральна приглухуватість · Мітохондріальна несиндромальна нейросенсорна глухота · Мітохондріальна несиндромальна нейросенсорна приглухуватість · Мітохондріальна несиндромна сенсоневральна приглухуватість |
| zh | 线粒体非综合征性感音神经性聋 | 线粒体非综合征型感音神经性听觉丧失 |
| tr | Mitokondriyal sendromik olmayan sensörinöral sağırlık | İzole mitokondriyal nörosensöriyel sağırlık · İzole mitokondriyal sensörinöral sağırlık · İzole mitokondriyal nörosensöriyel işitme kaybı · İzole mitokondriyal sensörinöral işitme kaybı · Mitokondriyal sendromik olmayan nörosensöriyel sağırlık · Mitokondriyal sendromik olmayan nörosensöriyel işitme kaybı · Mitokondriyal sendromik olmayan sensörinöral işitme kaybı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221745 | BTNT | validated | |
| OMIM | 304400 | BTNT | validated | |
| OMIM | 500008 | E | validated | |
| OMIM | 580000 | BTNT | validated | |
| ICD-10 | H90.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | index | validated |
| MONDO | 0010779 | E | validated | |
| UMLS | C5780045 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:254776Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases - ORPHA:87884Rare non-syndromic genetic deafness
rare genetic diseases; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:168609Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure moved to · inactive
4
Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-ND4 | Candidate gene tested in | Not yet assessed | HGNC:7459 | ENSG00000198886 | 516003 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | 17723226[PMID] |
| MT-CO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7419 | ENSG00000198804 | 516030 | mitochondria | mitochondrially encoded cytochrome c oxidase I | 20301607[PMID] |
| MT-RNR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7470 | ENSG00000211459 | 561000 | mitochondria | mitochondrially encoded 12S rRNA | 20301607[PMID]_24148127[PMID] |
| MT-TH | Disease-causing germline mutation(s) in | Assessed | HGNC:7487 | ENSG00000210176 | 590040 | mitochondria | mitochondrially encoded tRNA-His (CAU/C) | 21931169[PMID] |
| MT-TS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7497 | ENSG00000210151 | 590080 | mitochondria | mitochondrially encoded tRNA-Ser (UCN) 1 | 20301607[PMID]_24148127[PMID] |
| POU3F4 | Disease-causing germline mutation(s) in | Assessed | HGNC:9217 | ENSG00000196767 | 300039 | Xq21.1 | POU class 3 homeobox 4 | 19930154[PMID] |
| TFB1M | Modifying germline mutation in | Assessed | HGNC:17037 | ENSG00000029639 | 607033 | 6q25.3 | transcription factor B1, mitochondrial | 23510774[PMID] |
| TRMU | Modifying germline mutation in | Assessed | HGNC:25481 | ENSG00000100416 | 610230 | 22q13.31 | tRNA mitochondrial 2-thiouridylase | 23510774[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90641
- This record as JSON: /data/d/90641.json