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Congenital disorder of glycosylation with developmental anomaly

MedGen UID:
1842970
•Concept ID:
C5680018
•
Disease or Syndrome
Synonym: CDG with developmental anomaly
 
Orphanet: ORPHA371235

Professional guidelines

PubMed

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A, Kini U
Genet Med 2023 Jan;25(1):37-48. Epub 2022 Nov 2 doi: 10.1016/j.gim.2022.09.007. PMID: 36322149Free PMC Article
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC
J Inherit Metab Dis 2022 Sep;45(5):969-980. Epub 2022 Jun 30 doi: 10.1002/jimd.12527. PMID: 35716054Free PMC Article
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article

Recent clinical studies

Etiology

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ, Price S, Su HC, Notarangelo G, Jiang P, Morawski A, Kanellopoulou C, Binder K, Mukherjee R, Anibal JT, Sellers B, Zheng L, He T, George AB, Pittaluga S, Powers A, Kleiner DE, Kapuria D, Ghany M, Hunsberger S, Cohen JI, Uzel G, Bergerson J, Wolfe L, Toro C, Gahl W, Folio LR, Matthews H, Angelus P, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Orrego-Arango J, Gutiérrez-Hincapié S, Patel NC, Raymond K, Patiroglu T, Unal E, Karakukcu M, Day AG, Mehta P, Masutani E, De Ravin SS, Malech HL, Altan-Bonnet G, Rao VK, Mann M, Lenardo MJ
J Clin Invest 2020 Jan 2;130(1):507-522. doi: 10.1172/JCI131116. PMID: 31714901Free PMC Article
Congenital muscular dystrophies.
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361
Congenital dyserythropoietic anemias.
Marks PW, Mitus AJ
Am J Hematol 1996 Jan;51(1):55-63. doi: 10.1002/(SICI)1096-8652(199601)51:1<55::AID-AJH9>3.0.CO;2-6. PMID: 8571938

Diagnosis

Congenital myasthenic syndromes.
Beeson D
Handb Clin Neurol 2024;203:69-88. doi: 10.1016/B978-0-323-90820-7.00013-6. PMID: 39174255
Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K
Front Endocrinol (Lausanne) 2023;14:1013874. Epub 2023 Mar 30 doi: 10.3389/fendo.2023.1013874. PMID: 37065762Free PMC Article
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
Congenital muscular dystrophies.
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361

Therapy

Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency.
Du A, Yang K, Zhou X, Ren L, Liu N, Zhou C, Liang J, Yan N, Gao G, Wang D
JCI Insight 2024 Oct 8;9(19) doi: 10.1172/jci.insight.183189. PMID: 39137042Free PMC Article
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
De Graef D, Ligezka AN, Rezents J, Mazza GL, Preston G, Schwartz K, Krzysciak W, Lam C, Edmondson AC, Johnsen C, Kozicz T, Morava E
Mol Genet Metab 2023 Jun;139(2):107606. Epub 2023 May 9 doi: 10.1016/j.ymgme.2023.107606. PMID: 37224763Free PMC Article
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B
Am J Hum Genet 2019 May 2;104(5):835-846. Epub 2019 Apr 11 doi: 10.1016/j.ajhg.2019.03.003. PMID: 30982613Free PMC Article
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E
Genet Med 2017 Nov;19(11):1226-1235. Epub 2017 Jun 15 doi: 10.1038/gim.2017.41. PMID: 28617415Free PMC Article

Prognosis

Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K
Front Endocrinol (Lausanne) 2023;14:1013874. Epub 2023 Mar 30 doi: 10.3389/fendo.2023.1013874. PMID: 37065762Free PMC Article
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
Yoldas Celik M, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, Durmaz A, Zeybek S, Canda E, Kalkan Ucar S, Coker M
J Pediatr Endocrinol Metab 2023 Jun 27;36(6):530-538. Epub 2023 Apr 13 doi: 10.1515/jpem-2022-0641. PMID: 37042760
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.
Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB
J Inherit Metab Dis 2020 Mar;43(2):223-233. Epub 2019 Nov 8 doi: 10.1002/jimd.12162. PMID: 31420886Free PMC Article
Congenital muscular dystrophies.
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361

Clinical prediction guides

Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K
Front Endocrinol (Lausanne) 2023;14:1013874. Epub 2023 Mar 30 doi: 10.3389/fendo.2023.1013874. PMID: 37065762Free PMC Article
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
Yoldas Celik M, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, Durmaz A, Zeybek S, Canda E, Kalkan Ucar S, Coker M
J Pediatr Endocrinol Metab 2023 Jun 27;36(6):530-538. Epub 2023 Apr 13 doi: 10.1515/jpem-2022-0641. PMID: 37042760
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ, Price S, Su HC, Notarangelo G, Jiang P, Morawski A, Kanellopoulou C, Binder K, Mukherjee R, Anibal JT, Sellers B, Zheng L, He T, George AB, Pittaluga S, Powers A, Kleiner DE, Kapuria D, Ghany M, Hunsberger S, Cohen JI, Uzel G, Bergerson J, Wolfe L, Toro C, Gahl W, Folio LR, Matthews H, Angelus P, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Orrego-Arango J, Gutiérrez-Hincapié S, Patel NC, Raymond K, Patiroglu T, Unal E, Karakukcu M, Day AG, Mehta P, Masutani E, De Ravin SS, Malech HL, Altan-Bonnet G, Rao VK, Mann M, Lenardo MJ
J Clin Invest 2020 Jan 2;130(1):507-522. doi: 10.1172/JCI131116. PMID: 31714901Free PMC Article
Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation.
Van Scherpenzeel M, Willems E, Lefeber DJ
Glycoconj J 2016 Jun;33(3):345-58. Epub 2016 Jan 7 doi: 10.1007/s10719-015-9639-x. PMID: 26739145Free PMC Article
Congenital dyserythropoietic anemias.
Marks PW, Mitus AJ
Am J Hematol 1996 Jan;51(1):55-63. doi: 10.1002/(SICI)1096-8652(199601)51:1<55::AID-AJH9>3.0.CO;2-6. PMID: 8571938

Recent systematic reviews

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free PMC Article
Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review.
Colantuono R, D'Acunto E, Melis D, Vajro P, Freeze HH, Mandato C
J Pediatr Gastroenterol Nutr 2021 Oct 1;73(4):444-454. doi: 10.1097/MPG.0000000000003209. PMID: 34173795Free PMC Article
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.
Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB
J Inherit Metab Dis 2020 Mar;43(2):223-233. Epub 2019 Nov 8 doi: 10.1002/jimd.12162. PMID: 31420886Free PMC Article
Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.
Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E
Expert Rev Mol Diagn 2014 Mar;14(2):217-24. Epub 2014 Feb 13 doi: 10.1586/14737159.2014.890052. PMID: 24524732

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