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Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency

MedGen UID:
398779
•Concept ID:
C2713392
•
Disease or Syndrome
Synonyms: Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase; Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency; Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency; Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
SNOMED CT: Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency (79385002)
 
OMIM®: 309000

Professional guidelines

PubMed

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.
Zhang L, Wang S, Mao R, Fu H, Wang J, Shen H, Lu Z, Chen J, Bao Y, Feng C, Lai EY, Ye Q, Mao J
Genet Res (Camb) 2022;2022:1473260. Epub 2022 Jul 19 doi: 10.1155/2022/1473260. PMID: 35919034Free PMC Article
Genotype and phenotype studies of Lowe syndrome in three families in Taiwan.
Chen KJ, Wu HR, Chao MC, Chang TM, Chien JW, Chen M, Ma GC, Ke YY
Pediatr Neonatol 2021 May;62(3):327-328. Epub 2021 Feb 6 doi: 10.1016/j.pedneo.2021.01.012. PMID: 33745830
Clinical utility gene card for: Lowe syndrome.
Bökenkamp A, Levtchenko E, Recker F, Ludwig M
Eur J Hum Genet 2015 Jun;23(6):889-. Epub 2014 Sep 3 doi: 10.1038/ejhg.2014.177. PMID: 25182134Free PMC Article

Recent clinical studies

Etiology

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.
Zhang L, Wang S, Mao R, Fu H, Wang J, Shen H, Lu Z, Chen J, Bao Y, Feng C, Lai EY, Ye Q, Mao J
Genet Res (Camb) 2022;2022:1473260. Epub 2022 Jul 19 doi: 10.1155/2022/1473260. PMID: 35919034Free PMC Article
Phosphoinositides in autophagy: current roles and future insights.
Palamiuc L, Ravi A, Emerling BM
FEBS J 2020 Jan;287(2):222-238. Epub 2019 Nov 21 doi: 10.1111/febs.15127. PMID: 31693781Free PMC Article
Clinical Approach to Proximal Renal Tubular Acidosis in Children.
Finer G, Landau D
Adv Chronic Kidney Dis 2018 Jul;25(4):351-357. doi: 10.1053/j.ackd.2018.05.006. PMID: 30139461
The structure of phosphoinositide phosphatases: Insights into substrate specificity and catalysis.
Hsu F, Mao Y
Biochim Biophys Acta 2015 Jun;1851(6):698-710. Epub 2014 Sep 28 doi: 10.1016/j.bbalip.2014.09.015. PMID: 25264170Free PMC Article
Novel OCRL mutations in Chinese children with Lowe syndrome.
Zhang YQ, Wang F, Ding J, Yan H, Yang YL
World J Pediatr 2013 Feb;9(1):53-7. Epub 2013 Feb 7 doi: 10.1007/s12519-013-0406-4. PMID: 23389333

Diagnosis

Multiple odontogenic keratocysts in a patient with Lowe syndrome: a first case report and literature review.
Pedraza RM, Bezerra HKF, Magaña LC, Montaña LCP, Lino YR, Salazar AG, Simões E Silva AC, Martelli-Júnior H
Oral Surg Oral Med Oral Pathol Oral Radiol 2023 Dec;136(6):e171-e176. Epub 2023 Jul 11 doi: 10.1016/j.oooo.2023.07.008. PMID: 37891120
Inherited Fanconi syndrome.
Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC
World J Pediatr 2023 Jul;19(7):619-634. Epub 2023 Feb 2 doi: 10.1007/s12519-023-00685-y. PMID: 36729281
Corneal Keloid in Lowe Syndrome.
Martin GC, Putterman M, Dureau P
Ophthalmology 2022 Jun;129(6):625. doi: 10.1016/j.ophtha.2021.12.006. PMID: 35598901
Clinical Approach to Proximal Renal Tubular Acidosis in Children.
Finer G, Landau D
Adv Chronic Kidney Dis 2018 Jul;25(4):351-357. doi: 10.1053/j.ackd.2018.05.006. PMID: 30139461
The oculocerebrorenal syndrome of Lowe.
Lavin CW, McKeown CA
Int Ophthalmol Clin 1993 Spring;33(2):179-91. doi: 10.1097/00004397-199303320-00017. PMID: 8325732

Therapy

Onset mechanism of a female patient with Dent disease 2.
Okamoto T, Sakakibara N, Nozu K, Takahashi T, Hayashi A, Sato Y, Nagano C, Matsuo M, Iijima K, Manabe A
Clin Exp Nephrol 2020 Oct;24(10):946-954. Epub 2020 Jul 14 doi: 10.1007/s10157-020-01926-4. PMID: 32666344
Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome.
Mikhail M, Modabber M, Koenekoop RK, Braverman N, Khan A
Eye (Lond) 2016 Sep;30(9):1272-3. Epub 2016 May 27 doi: 10.1038/eye.2016.100. PMID: 27229703Free PMC Article
Oculocerebrorenal Lowe syndrome: a literature review and two case reports.
Rodrigues Santos MT, Watanabe MM, Manzano FS, Lopes CH, Masiero D
Spec Care Dentist 2007 May-Jun;27(3):108-11. doi: 10.1111/j.1754-4505.2007.tb01750.x. PMID: 17658186
Pathogenesis of cataracts in patients with Lowe's syndrome.
Tripathi RC, Cibis GW, Tripathi BJ
Ophthalmology 1986 Aug;93(8):1046-51. doi: 10.1016/s0161-6420(86)33622-4. PMID: 3763153
Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.
Hittner HM, Carroll AJ, Prchal JT
Am J Hum Genet 1982 Nov;34(6):966-71. PMID: 7180850Free PMC Article

Prognosis

Inherited Fanconi syndrome.
Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC
World J Pediatr 2023 Jul;19(7):619-634. Epub 2023 Feb 2 doi: 10.1007/s12519-023-00685-y. PMID: 36729281
RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.
Zhang X, Qiu W, Liu H, Ye X, Sun Y, Fan Y, Yu Y
Ann Hum Genet 2020 Nov;84(6):456-462. Epub 2020 Aug 10 doi: 10.1111/ahg.12400. PMID: 32776513
Muscle involvement in Dent disease 2.
Park E, Choi HJ, Lee JM, Ahn YH, Kang HG, Choi YM, Park SJ, Cho HY, Park YH, Lee SJ, Ha IS, Cheong HI
Pediatr Nephrol 2014 Nov;29(11):2127-32. Epub 2014 Jun 7 doi: 10.1007/s00467-014-2841-4. PMID: 24912603
Lowe syndrome.
Loi M
Orphanet J Rare Dis 2006 May 18;1:16. doi: 10.1186/1750-1172-1-16. PMID: 16722554Free PMC Article
Corneal keloid in Lowe's syndrome.
Cibis GW, Tripathi RC, Tripathi BJ, Harris DJ
Arch Ophthalmol 1982 Nov;100(11):1795-9. doi: 10.1001/archopht.1982.01030040775013. PMID: 7138348

Clinical prediction guides

Multiple odontogenic keratocysts in a patient with Lowe syndrome: a first case report and literature review.
Pedraza RM, Bezerra HKF, Magaña LC, Montaña LCP, Lino YR, Salazar AG, Simões E Silva AC, Martelli-Júnior H
Oral Surg Oral Med Oral Pathol Oral Radiol 2023 Dec;136(6):e171-e176. Epub 2023 Jul 11 doi: 10.1016/j.oooo.2023.07.008. PMID: 37891120
Ophthalmological finding in a patient with lowe syndrome.
Tomčíková D, Gerinec A, Bzdúch V, Krásnik V, Bušányová B, Brennerová K
Cesk Slov Oftalmol 2018 Winter;74(3):104-106. doi: 10.31348/2018/1/4-3-2018. PMID: 30650973
Muscle involvement in Dent disease 2.
Park E, Choi HJ, Lee JM, Ahn YH, Kang HG, Choi YM, Park SJ, Cho HY, Park YH, Lee SJ, Ha IS, Cheong HI
Pediatr Nephrol 2014 Nov;29(11):2127-32. Epub 2014 Jun 7 doi: 10.1007/s00467-014-2841-4. PMID: 24912603
Mutations in OCRL1 gene in Indian children with Lowe syndrome.
Sethi SK, Bagga A, Gulati A, Hari P, Gupta N, Lunardi J
Clin Exp Nephrol 2008 Oct;12(5):358-362. Epub 2008 May 24 doi: 10.1007/s10157-008-0059-0. PMID: 18500547
Molecular confirmation of carriers for Lowe syndrome.
Lin T, Lewis RA, Nussbaum RL
Ophthalmology 1999 Jan;106(1):119-22. doi: 10.1016/S0161-6420(99)90012-X. PMID: 9917791

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