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ALG9-associated autosomal dominant polycystic kidney disease

MedGen UID:
987306
•Concept ID:
CN305626
•
Disease or Syndrome
Synonyms: ALG9 autosomal dominant polycystic kidney disease; ALG9 related autosomal dominant polycystic kidney disease; ALG9-associated ADPKD; Autosomal Dominant Polycystic Kidney Disease - ALG9; autosomal dominant polycystic kidney disease caused by mutation in ALG9
 
Monarch Initiative: MONDO:0700000

Definition

Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene. [from MONDO]

Recent clinical studies

Etiology

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R, Baatz S, Nemitz-Kliemchen M, Frank V, Petzold F, Sewerin S, Popp B, Münch J, Neuber S, Bergmann C, Halbritter J
Genet Med 2020 Aug;22(8):1374-1383. Epub 2020 May 13 doi: 10.1038/s41436-020-0816-3. PMID: 32398770Free PMC Article

Diagnosis

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R, Baatz S, Nemitz-Kliemchen M, Frank V, Petzold F, Sewerin S, Popp B, Münch J, Neuber S, Bergmann C, Halbritter J
Genet Med 2020 Aug;22(8):1374-1383. Epub 2020 May 13 doi: 10.1038/s41436-020-0816-3. PMID: 32398770Free PMC Article

Therapy

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R, Baatz S, Nemitz-Kliemchen M, Frank V, Petzold F, Sewerin S, Popp B, Münch J, Neuber S, Bergmann C, Halbritter J
Genet Med 2020 Aug;22(8):1374-1383. Epub 2020 May 13 doi: 10.1038/s41436-020-0816-3. PMID: 32398770Free PMC Article

Prognosis

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R, Baatz S, Nemitz-Kliemchen M, Frank V, Petzold F, Sewerin S, Popp B, Münch J, Neuber S, Bergmann C, Halbritter J
Genet Med 2020 Aug;22(8):1374-1383. Epub 2020 May 13 doi: 10.1038/s41436-020-0816-3. PMID: 32398770Free PMC Article

Clinical prediction guides

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R, Baatz S, Nemitz-Kliemchen M, Frank V, Petzold F, Sewerin S, Popp B, Münch J, Neuber S, Bergmann C, Halbritter J
Genet Med 2020 Aug;22(8):1374-1383. Epub 2020 May 13 doi: 10.1038/s41436-020-0816-3. PMID: 32398770Free PMC Article

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