ORPHA:93591

Infantile nephronophthisis

Synonyms: Autosomal recessive infantile NPHP · Autosomal recessive infantile nephronophthisis

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Age of onset: Antenatal, Childhood, Infancy, Neonatal
Status: active

A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Infantile nephronophthisis	Autosomal recessive infantile NPHP · Autosomal recessive infantile nephronophthisis
fr	Néphronophtise infantile	Néphronophtise infantile autosomique récessive
de	Nephronophthise, infantile Form	Autosomal-rezessive infantile NPHP · Autosomal-rezessive infantile Nephronophthise
es	Nefronoptisis infantil	NPHP infantil autosómica recesiva · Nefronoptisis infantil autosómica recesiva
it	Nefronoftisi infantile	NPHP infantile autosomica recessiva · Nefronoftisi infantile autosomia recessiva
nl	Infantiele nefronoftise	Autosomaal recessieve infantiele NPHP · Autosomaal recessieve infantiele nefronoftise
pt	Nefronoptise da infância	Doença renal quística medular da infância autossómica recessiva
pl	Nefronoftyza dziecięca	Autosomalna recesywna dziecięca NPHP · Autosomalna recesywna nefronoftyza dziecięca
cs	Dětská forma nefronoftízy	Autozomálně recesivní dětská forma NPHP · Autozomálně recesivní dětská nefronoftíza
uk	Дитячий нефронофтіз	Аутосомно-рецесивний дитячий нефронофтіз · Аутосомно-рецесивна інфантильна НПНП
zh	婴儿型肾结核	常染色体隐性遗传性婴儿型肾结核
tr	İnfantil nefronoftiz	Otozomal çekinik infantil NPHP · Otozomal çekinik infantil nefronofitizis

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	602088	BTNT		validated
OMIM	615382	BTNT		validated
ICD-10	Q61.5	NTBT	attributed	validated
ICD-11	GB83	NTBT	attributed	validated
MONDO	0011190	E		validated
UMLS	C1865872	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 (1):

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

No children.

Genes

7 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NPHP3	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:7907	ENSG00000113971	608002	3q22.1	nephrocystin 3	26184788[PMID]_18371931[PMID]
ANKS6	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	Disease-causing germline mutation(s) in	Assessed	HGNC:17966	ENSG00000173588	615847	12q22	centrosomal protein 83	24882706[PMID]
INVS	Disease-causing germline mutation(s) in	Assessed	HGNC:17870	ENSG00000119509	243305	9q31.1	inversin
NEK8	Disease-causing germline mutation(s) in	Assessed	HGNC:13387	ENSG00000160602	609799	17q11.2	NIMA related kinase 8	18199800[PMID]
TTC21B	Disease-causing germline mutation(s) in	Assessed	HGNC:25660	ENSG00000123607	612014	2q24.3	tetratricopeptide repeat domain 21B	21258341[PMID]
ZNF423	Disease-causing germline mutation(s) in	Assessed	HGNC:16762	ENSG00000102935	604557	16q12.1	zinc finger protein 423	22863007[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Europe	Class only	Validated	European Rare Kidney Diseases Reference Network[OTHER]

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

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/93591
This record as JSON: /data/d/93591.json