ORPHA:718255

Y-linked non-syndromic genetic deafness

Synonyms: Non-syndromic genetic DFNY · Y-linked isolated neurosensory deafness · Y-linked isolated neurosensory hearing loss · Y-linked isolated sensorineural deafness · Y-linked isolated sensorineural hearing loss · Y-linked non-syndromic genetic hearing loss · Y-linked non-syndromic neurosensory deafness · Y-linked non-syndromic neurosensory hearing loss · Y-linked non-syndromic sensorineural deafness · Y-linked non-syndromic sensorineural hearing loss

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Y-linked
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Y-linked non-syndromic genetic deafness	Non-syndromic genetic DFNY · Y-linked isolated neurosensory deafness · Y-linked isolated neurosensory hearing loss · Y-linked isolated sensorineural deafness · Y-linked isolated sensorineural hearing loss · Y-linked non-syndromic genetic hearing loss · Y-linked non-syndromic neurosensory deafness · Y-linked non-syndromic neurosensory hearing loss · Y-linked non-syndromic sensorineural deafness · Y-linked non-syndromic sensorineural hearing loss
fr	Surdité génétique non syndromique liée au chromosome Y	Surdité de perception isolée liée au chromosome Y · Surdité de perception non syndromique liée au chromosome Y · Surdité neurosensorielle isolée liée au chromosome Y
de	Y-chromosomale nicht-syndromale genetische Schwerhörigkeit	Y-chromosomale isolierte neurosensorische Taubheit · Y-chromosomale isolierte sensorineurale Schwerhörigkeit · Y-chromosomaler isolierter neurosensorischer Hörverlust
es	Sordera genética no sindrómica ligada al cromosoma Y	Hipoacusia neurosensorial no sindrómica ligada al cromosoma Y · DFNY genética no sindrómica · Sordera neurosensorial aislada ligada al cromosoma Y · Hipoacusia neurosensorial aislada ligada al cromosoma Y · Hipoacusia genética no sindrómica ligada al cromosoma Y · Sordera neurosensorial no sindrómica ligada al cromosoma Y
it	Sordità genetica non sindromica legata all'Y	Sordità neurosensoriale non sindromica legata all'Y · Perdita dell'udito neurosensoriale non sindromica legata all'Y · DFNY genetica non sindromica · Sordità neurosensoriale isolata legata all'Y · Perdita dell'udito neurosensoriale isolata legata all'Y · Perdita dell'udito genetica non sindromica legata all'Y
nl	Y-gebonden niet-syndromale genetische doofheid	Y-gebonden niet-syndromaal neurosensorisch gehoorverlies · Y-gebonden niet-syndromaal sensorineuraal gehoorverlies · Y-gebonden geïsoleerd perceptief gehoorverlies · Y-gebonden niet-syndromaal perceptief gehoorverlies · Y-gebonden geïsoleerd neurosensorisch gehoorverlies · Y-gebonden niet-syndromaal genetisch gehoorverlies · Y-gebonden geïsoleerd sensorineuraal gehoorverlies · Y-gebonden niet-syndromale neurosensorische doofheid · Y-gebonden niet-syndromale sensorineurale doofheid · Niet-syndromale genetische DFNY · Y-gebonden geïsoleerde neurosensorische doofheid · Y-gebonden geïsoleerde sensorineurale doofheid
pt	Rare Y-linked non-syndromic sensorineural deafness type DFNY
pl	Y-linked non-syndromic genetic deafness	= en
cs	Y-linked non-syndromic genetic deafness	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	400043	BTNT		validated
OMIM	400047	BTNT		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98036Rare otorhinolaryngologic disease

Parents in the classifications (1):

ORPHA:87884Rare non-syndromic genetic deafness
rare genetic diseases; rare otorhinolaryngological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TBL1Y	Disease-causing germline mutation(s) in	Assessed	HGNC:18502	ENSG00000092377	400033	Yp11.2	transducin beta like 1 Y-linked	30341416[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/718255
This record as JSON: /data/d/718255.json