nail-patella-like renal disease
Findings
No curated finding names nail-patella-like renal disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A severe nephropathy characterized by renal dysfunction, proteinuria, edema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.
Definition from the Mondo Disease Ontology (MONDO:0009724), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Late onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
9 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.
- GlomerulopathyHPOHP:0100820
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- Very frequent (80% to 99% of cases)
- Microscopic hematuriaHPOHP:0002907
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- Renal insufficiencyHPOHP:0000083
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Focal segmental glomerulosclerosis
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.
- LMX1BHGNC:6654
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: nail-patella-like renal disease
- Also called
- focal segmental glomerulosclerosis 10Salcedo syndrome