ORPHA:90625
X-linked non-syndromic genetic deafness
Synonyms: X-linked non-syndromic sensorineural deafness · X-linked non-syndromic sensorineural hearing loss · Non-syndromic genetic DFNX · X-linked isolated neurosensory deafness · X-linked isolated neurosensory hearing loss · X-linked isolated sensorineural deafness · X-linked isolated sensorineural hearing loss · X-linked non-syndromic genetic hearing loss · X-linked non-syndromic neurosensory deafness · X-linked non-syndromic neurosensory hearing loss
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- 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 | X-linked non-syndromic genetic deafness | X-linked non-syndromic sensorineural deafness · X-linked non-syndromic sensorineural hearing loss · Non-syndromic genetic DFNX · X-linked isolated neurosensory deafness · X-linked isolated neurosensory hearing loss · X-linked isolated sensorineural deafness · X-linked isolated sensorineural hearing loss · X-linked non-syndromic genetic hearing loss · X-linked non-syndromic neurosensory deafness · X-linked non-syndromic neurosensory hearing loss |
| fr | Surdité génétique non syndromique liée au chromosome X | Surdité de perception isolée liée au chromosome X · Surdité de perception non syndromique liée au chromosome X · Surdité neurosensorielle isolée liée au chromosome X |
| de | X-chromosomale nicht-syndromale Schwerhörigkeit | X-chromosomale isolierte sensorineurale Taubheit · Hörverlust, isolierter neurosensorischer, X-chromosomaler · X-chromosomale nicht-syndromale neurosensorische Taubheit · X-chromosomale nicht-syndromale sensorineurale Schwerhörigkeit · Hörverlust, nicht-syndromaler, Typ DFNX · X-chromosomaler isolierter neurosensorischer Hörverlust |
| es | Sordera genética no sindrómica ligada al cromosoma X | Hipoacusia genética no sindrómica ligada al cromosoma X · Sordera neurosensorial no sindrómica ligada al cromosoma X · DFNX genética no sindrómica · Hipoacusia neurosensorial aislada ligada al cromosoma X · Sordera neurosensorial aislada ligada al cromosoma X · Hipoacusia neurosensorial no sindrómica ligada al cromosoma X |
| it | Sordità genetica non sidromica legata all'X | Perdita dell'udito neurosensoriale non sindromica legata all'X · 'Sordità neurosensoriale isolata legata all'X, tipo DFN' · 'Sordità neurosensoriale non sindromica legata all'X, tipo DFN' · DFNX genetica non sindromica · Perdita dell'udito neurosensoriale non sindromica legata all'X, tipo DFN · Sordità neurosensoriale isolata legata all'X · Perdita dell'udito neurosensoriale isolata legata all'X · Perdita dell'udito genetica non sindromica legata all'X · Sordità neurosensoriale non sindromica legata all'X |
| nl | X-gebonden niet-syndromale genetische doofheid | Niet-syndromale genetische DFNX · X-gebonden niet-syndromale sensorineurale doofheid · X-gebonden niet-syndromaal sensorineuraal hgehoorverlies · X-gebonden geïsoleerde neurosensorische doofheid · X-gebonden geïsoleerd neurosensorisch gehoorverlies · X-gebonden geïsoleerde sensorineurale doofheid · X-gebonden geïsoleerd sensorineuraal gehoorverlies · X-gebonden niet-syndromaal genetisch gehoorverlies · X-gebonden niet-syndromale neurosensorische doofheid · X-gebonden niet-syndromaal neurosensorisch gehoorverlies |
| pt | Surdez neurossensorial não-sindromática rara ligada ao X tipo DFN | Perda auditiva neurossensorial isolada ligada ao X tipo DFN · Perda auditiva neurossensorial não-sindromática ligada ao X tipo DFN · Surdez neurossensorial isolada ligada ao X tipo DFN · Surdez neurossensorial não-sindromática ligada ao X tipo DFN |
| pl | Niesyndromiczna głuchota czuciowo-nerwowa typu DFN sprzężona z chromosomem X | Izolowana głuchota czuciowo-nerwowa typu DFN sprzężona z chromosomem X · Izolowana głuchota nerwowo-czuciowa typu DFN sprzężona z chromosomem X · Izolowana utrata słuchu czuciowo-nerwowa typu DFN sprzężona z chromosomem X · Izolowana utrata słuchu nerwowo-czuciowa typu DFN sprzężona z chromosomem X · Niesyndromiczna głuchota nerwowo-czuciowa typu DFN sprzężona z chromosomem X · Niesyndromiczna nerwowo-czuciowa utrata słuchu typu DFN sprzężona z chromosomem X · Niesyndromiczna utrata słuchu czuciowo-nerwowa typu DFN sprzężona z chromosomem X · Rzadka związana z chromosomem X niesyndromiczna głuchota czuciowo-nerwowa typu DFN |
| cs | X-vázaná nesyndromová senzorineurální hluchota (zkratka DFNX) | X-vázaná izolovaná senzorineurální hluchota · X-vázaná izolovaná senzorineurální ztráta sluchu · X-vázaná izolovaná senzorineurální hluchota, typ DFN · X-vázaná izolovaná senzorineurální ztráta sluchu, typ DFN · X-vázaná nesyndromická senzorineurální hluchota, typ DFN · X-vázaná nesyndromická senzorineurální ztráta sluchu, typ DFN |
| uk | Рідкісна несиндромальна сенсоневральна глухота, зчеплена з Х-хромосомою, тип DFN | Х-зчеплена ізольована нейросенсорна глухота типу DFN · Х-зчеплена ізольована нейросенсорна приглухуватість типу DFN · Х-зчеплена ізольована сенсоневральна глухота типу DFN · Х-зчеплена ізольована сенсоневральна приглухуватість типу DFN · Х-зчеплена несиндромальна нейросенсорна глухота типу DFN · Х-зчеплена несиндромальна нейросенсорна приглухуватість типу DFN · Х-зчеплена несиндромальна сенсоневральна приглухуватість типу DFN |
| zh | X-连锁非综合征型感音神经性耳聋DFN型 | X-连锁非综合征型感音神经性听觉丧失DFN型 |
| tr | X'e bağlı sendromik olmayan sensörinöral sağırlık tipi DFN | X'e bağlı izole nörosensoriyel sağırlık tip DFN · X'e bağlı izole sensörinöral sağırlık tip DFN · X'e bağlı izole nörosensör işitme kaybı tip DFN · X'e bağlı izole sensörinöral işitme kaybı tip DFN · X'e bağlı sendromik olmayan nörosensör sağırlık tip DFN · X'e bağlı sendromik olmayan nörosensör işitme kaybı tip DFN · X'e bağlı sendromik olmayan sensörinöral işitme kaybı tip DFN |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300030 | BTNT | validated | |
| OMIM | 300066 | BTNT | validated | |
| OMIM | 300914 | BTNT | validated | |
| OMIM | 304500 | BTNT | validated | |
| ICD-10 | H90.3 | NTBT | attributed | validated |
| ICD-11 | AB50 | NTBT | attributed | validated |
| MONDO | 0019586 | E | validated | |
| UMLS | C5680192 | 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 (1):
- ORPHA:87884Rare non-syndromic genetic deafness
rare genetic diseases; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:383X-linked mixed deafness with perilymphatic gusher moved to · inactive
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL4A6 | Disease-causing germline mutation(s) in | Assessed | HGNC:2208 | ENSG00000197565 | 303631 | Xq22.3 | collagen type IV alpha 6 chain | 23714752[PMID] |
| PRPS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9462 | ENSG00000147224 | 311850 | Xq22.3 | phosphoribosyl pyrophosphate synthetase 1 | 20301607[PMID]_24148127[PMID] |
| SMPX | Disease-causing germline mutation(s) in | Assessed | HGNC:11122 | ENSG00000091482 | 300226 | Xp22.12 | small muscle protein X-linked | 20301607[PMID]_24148127[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/90625
- This record as JSON: /data/d/90625.json