ORPHA:93589

Late-onset nephronophthisis

This disease is described under Nephronophthisis

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Late-onset nephronophthisis
fr	Néphronophtise tardive
de	Nephronophthise, spät beginnende Form
es	Nefronoptisis de inicio tardío
it	Nefronoftisi a esordio tardivo
nl	Laat beginnende nefronoftise
pt	Nefronoftise de início tardio	Doença renal quística medular autossómica recessiva de início tardio
pl	Nefronoftyza o późnym początku
cs	Nefronoftíza s pozdním nástupem
uk	Пізній нефронофтіз
zh	迟发型肾结核
tr	Geç başlangıçlı nefronofthisis

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	604387	BTNT		validated
OMIM	613159	BTNT		validated
OMIM	617271	BTNT		validated
ICD-10	Q61.5	NTBT	attributed	validated
ICD-11	GB83	NTBT	attributed	validated
MONDO	0019742	E		validated
UMLS	C5681620	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:655Nephronophthisis
rare genetic diseases; rare renal diseases; rare transplant-related disorders

No children.

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MAPKBP1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:29536	ENSG00000137802	616786	15q15.1	mitogen-activated protein kinase binding protein 1	28089251[PMID]
NPHP3	Disease-causing germline mutation(s) in	Assessed	HGNC:7907	ENSG00000113971	608002	3q22.1	nephrocystin 3
XPNPEP3	Disease-causing germline mutation(s) in	Assessed	HGNC:28052	ENSG00000196236	613553	22q13.2	X-prolyl aminopeptidase 3	20179356[PMID]

0 records

No prevalence record in this release.

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