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MVK-Related Disorders

MedGen UID:
893630
•Concept ID:
CN239294
•
Disease or Syndrome

Recent clinical studies

Etiology

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Dvaladze A, Tavares E, Di Scipio M, Nimmo G, Grudzinska-Pechhacker MK, Paton T, Tumber A, Li S, Eileen C, Ertl-Wagner B, Mamak E, Hoffmann G, Marshall CR, Haas D, Mayatepek E, Schulze A, Heon E, Vincent A
Clin Genet 2022 Dec;102(6):524-529. Epub 2022 Aug 14 doi: 10.1111/cge.14207. PMID: 35916082

Diagnosis

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Dvaladze A, Tavares E, Di Scipio M, Nimmo G, Grudzinska-Pechhacker MK, Paton T, Tumber A, Li S, Eileen C, Ertl-Wagner B, Mamak E, Hoffmann G, Marshall CR, Haas D, Mayatepek E, Schulze A, Heon E, Vincent A
Clin Genet 2022 Dec;102(6):524-529. Epub 2022 Aug 14 doi: 10.1111/cge.14207. PMID: 35916082

Prognosis

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Dvaladze A, Tavares E, Di Scipio M, Nimmo G, Grudzinska-Pechhacker MK, Paton T, Tumber A, Li S, Eileen C, Ertl-Wagner B, Mamak E, Hoffmann G, Marshall CR, Haas D, Mayatepek E, Schulze A, Heon E, Vincent A
Clin Genet 2022 Dec;102(6):524-529. Epub 2022 Aug 14 doi: 10.1111/cge.14207. PMID: 35916082

Clinical prediction guides

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Dvaladze A, Tavares E, Di Scipio M, Nimmo G, Grudzinska-Pechhacker MK, Paton T, Tumber A, Li S, Eileen C, Ertl-Wagner B, Mamak E, Hoffmann G, Marshall CR, Haas D, Mayatepek E, Schulze A, Heon E, Vincent A
Clin Genet 2022 Dec;102(6):524-529. Epub 2022 Aug 14 doi: 10.1111/cge.14207. PMID: 35916082

Supplemental Content

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