Nephronophthisis (NPHP) is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure. NPHP is the most frequent genetic cause of end-stage renal failure in the first 3 decades of life. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the urinary system
Autosomal recessive Autosomal dominant
17q11.2
Nephronophthisis (NPHP) is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure. NPHP is the most frequent genetic cause of end-stage renal failure in the first 3 decades of life. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613824.1 | Lebanon | Male | No | Cystic renal dysplasia; Enlarged kidney;... Cystic renal dysplasia; Enlarged kidney; Renal insufficiency; Anemia  | NM_178170.3:c.133C>T | Heterozygous | Autosomal, Dominant | Mehawej et al. 2022 | de novo variant |