Late-onset nephronophthisis

MedGen UID:: 1842314
•Concept ID:: C5681620
•: Disease or Syndrome

Synonym:	late-onset nephronophthisis
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0019742
Orphanet:	ORPHA93589

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLate-onset nephronophthisis

Abnormality of the urinary system
- Abnormality of the upper urinary tract
  - Abnormality of the kidney
    - Abnormal renal morphology
      - Abnormal renal medulla morphology
        Nephronophthisis
        Late-onset nephronophthisis

Recent clinical studies

Etiology

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group
Kidney Int 2023 Aug;104(2):378-387. Epub 2023 May 23 doi: 10.1016/j.kint.2023.05.007. PMID: 37230223

Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.

Schwarz H, Popp B, Airik R, Torabi N, Knaup KX, Stoeckert J, Wiech T, Amann K, Reis A, Schiffer M, Wiesener MS, Schueler M
Hum Mol Genet 2022 May 4;31(9):1357-1369. doi: 10.1093/hmg/ddab322. PMID: 34740236

Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice.

Omran H, Häffner K, Burth S, Fernandez C, Fargier B, Villaquiran A, Nothwang HG, Schnittger S, Lehrach H, Woo D, Brandis M, Sudbrak R, Hildebrandt F
J Am Soc Nephrol 2001 Jan;12(1):107-113. doi: 10.1681/ASN.V121107. PMID: 11134256

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Diagnosis

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family.

Wang Y, Chen F, Wang J, Zhao Y, Liu F
BMC Nephrol 2019 May 16;20(1):173. doi: 10.1186/s12882-019-1372-4. PMID: 31096956 Free PMC Article

Recent advances in the molecular diagnosis of polycystic kidney disease.

Bergmann C
Expert Rev Mol Diagn 2017 Dec;17(12):1037-1054. Epub 2017 Nov 16 doi: 10.1080/14737159.2017.1386099. PMID: 28952822

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A
Am J Hum Genet 2017 Feb 2;100(2):323-333. Epub 2017 Jan 12 doi: 10.1016/j.ajhg.2016.12.011. PMID: 28089251 Free PMC Article

Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B.

Apostolou T, Nikolopoulou N, Theodoridis M, Koumoustiotis V, Pavlopoulou E, Chondros D, Billis A
Nephrol Dial Transplant 2001 Dec;16(12):2412-5. doi: 10.1093/ndt/16.12.2412. PMID: 11733635

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