ORPHA:655

Nephronophthisis

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Status: active

A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Nephronophthisis
fr	Néphronophtise
de	Nephronophthise
es	Nefronoptisis
it	Nefronoftisi
nl	Nefronoftise
pt	Nefronoptise
pl	Nefronoftyza
cs	Juvenilní nefronoftíza
uk	Нефронофтіз
zh	肾消耗病
tr	Nefronofitiz

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	256100	E		validated
OMIM	602088	BTNT		validated
OMIM	604387	BTNT		validated
OMIM	606966	BTNT		validated
OMIM	611498	BTNT		validated
OMIM	613159	BTNT		validated
OMIM	613820	BTNT		validated
OMIM	613824	BTNT		validated
OMIM	614377	BTNT		validated
OMIM	615382	BTNT		validated
OMIM	615862	BTNT		validated
OMIM	617271	BTNT		validated
ICD-10	Q61.5	NTBT	attributed	validated
ICD-11	GB83	E	specific	validated
MONDO	0019005	E		validated
UMLS	C0687120	E		validated
GARD	206	E		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:93626Rare renal disease

Parents in the classifications (4):

ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases
ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
ORPHA:156162Renal ciliopathy
rare genetic diseases
ORPHA:156180Retinal ciliopathy due to mutation in nephronophthisis gene
rare genetic diseases

Children (3):

Genes

0 direct · 17 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GLIS2	ORPHA:93592Juvenile nephronophthisis	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:29450	ENSG00000126603	608539	16p13.3	GLIS family zinc finger 2	17618285[PMID]
MAPKBP1	ORPHA:93589Late-onset nephronophthisis	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]
MAPKBP1	ORPHA:93592Juvenile nephronophthisis	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	ORPHA:93591Infantile nephronophthisis	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:7907	ENSG00000113971	608002	3q22.1	nephrocystin 3	26184788[PMID]_18371931[PMID]
ADAMTS9	ORPHA:93592Juvenile nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:13202	ENSG00000163638	605421	3p14.1	ADAM metallopeptidase with thrombospondin type 1 motif 9	30609407[PMID]
ANKS6	ORPHA:93591Infantile nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:26724	ENSG00000165138	615370	9q22.33	ankyrin repeat and sterile alpha motif domain containing 6	23793029[PMID]
ANKS6	ORPHA:93592Juvenile nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:26724	ENSG00000165138	615370	9q22.33	ankyrin repeat and sterile alpha motif domain containing 6	23793029[PMID]
CEP83	ORPHA:93591Infantile nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:17966	ENSG00000173588	615847	12q22	centrosomal protein 83	24882706[PMID]
INVS	ORPHA:93591Infantile nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:17870	ENSG00000119509	243305	9q31.1	inversin
NEK8	ORPHA:93591Infantile nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:13387	ENSG00000160602	609799	17q11.2	NIMA related kinase 8	18199800[PMID]
NPHP1	ORPHA:93592Juvenile nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:7905	ENSG00000144061	607100	2q13	nephrocystin 1
NPHP3	ORPHA:93589Late-onset nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:7907	ENSG00000113971	608002	3q22.1	nephrocystin 3
NPHP4	ORPHA:93592Juvenile nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:19104	ENSG00000131697	607215	1p36.31	nephrocystin 4
TTC21B	ORPHA:93591Infantile nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:25660	ENSG00000123607	612014	2q24.3	tetratricopeptide repeat domain 21B	21258341[PMID]
WDR19	ORPHA:93592Juvenile nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:18340	ENSG00000157796	608151	4p14	WD repeat domain 19	22019273[PMID]
XPNPEP3	ORPHA:93589Late-onset nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:28052	ENSG00000196236	613553	22q13.2	X-prolyl aminopeptidase 3	20179356[PMID]
ZNF423	ORPHA:93591Infantile nephronophthisis	Disease-causing germline mutation(s) in	Assessed	HGNC:16762	ENSG00000102935	604557	16q12.1	zinc finger protein 423	22863007[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 100 000	1.25 / 100 000	Finland	Value and class	Validated	10196704[PMID]
Point prevalence	Unknown	—	Europe	Class only	Validated	[EXPERT]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

3 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0007703	Abnormality of retinal pigmentation
HP:0001903	Anemia
HP:0000083	Renal insufficiency

Sources for this card

Orphanet page: orpha.net/en/disease/detail/655
This record as JSON: /data/d/655.json