nephronophthisis-like nephropathy 2
MONDO:0859175Mondo
Findings
No curated finding names nephronophthisis-like nephropathy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CoughHPOHP:0012735
- 2 of 2 reported patients
- Elevated circulating creatinine concentrationHPOHP:0003259
- 2 of 2 reported patients
- Periglomerular fibrosisHPOHP:0032417
- 2 of 2 reported patients
- PolydipsiaHPOHP:0001959
- 2 of 2 reported patients
- PolyuriaHPOHP:0000103
- 2 of 2 reported patients
- Pulmonary infiltratesHPOHP:0002113
- 2 of 2 reported patients
- Recurrent feverHPOHP:0001954
- 2 of 2 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 2 of 2 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 2 of 2 reported patients · Juvenile onset
- Tubular luminal dilatationHPOHP:0032622
- 2 of 2 reported patients
- BronchiectasisHPOHP:0002110
- 1 of 2 reported patients
- Renal insufficiencyHPOHP:0000083
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC41A1HGNC:19429
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of