Jaeken syndrome is an autosomal recessive congenital disorder of glycosylation type 1A. It is caused by mutations of the PMM2 gene.
Congenital disorder of glycosylation | ||||
Congenital disorder of glycosylation 1A | ||||
PMM2 | ||||
Congenital disorder of glycosylation 1L | ||||
Congenital disorder of glycosylation 1N | ||||
Gillessen-Kaesbach-Nishimura syndrome | ||||
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de Lonlay P et al. (2001) A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. |
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Jaeken J et al. (1993) The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? |
4. |
Petersen MB et al. (1993) Early manifestations of the carbohydrate-deficient glycoprotein syndrome. |
5. |
Van Geet C et al. (1993) A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome. |
6. |
Panneerselvam K et al. (1996) Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. |
7. |
Fiumara A et al. (1996) Familial Dandy-Walker variant in CDG syndrome. |
8. |
Matthijs G et al. (1996) Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1). |
9. |
Bjursell C et al. (1997) Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families. |
10. |
de Koning TJ et al. (1998) Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. |
11. |
Carchon H et al. (1999) Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency). |
13. |
None (2000) Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly. |
14. |
Imtiaz F et al. (2000) Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. |
15. |
Van Schaftingen E et al. (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. |
16. |
Drouin-Garraud V et al. (2001) Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. |
17. |
Van Geet C et al. (2001) Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications. |
18. |
Grunewald S et al. (2002) Congenital disorders of glycosylation: a review. |
19. |
Sala G et al. (2002) Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts. |
20. |
Silengo M et al. (2003) Hair changes in congenital disorders of glycosylation (CDG type 1). |
21. |
Marquardt T et al. (2003) Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. |
22. |
Schollen E et al. (2004) Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion. |
23. |
van de Kamp JM et al. (2007) Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. |
24. |
Coman D et al. (2008) Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. |
25. |
Coman D et al. (2008) The skeletal manifestations of the congenital disorders of glycosylation. |
26. |
Barone R et al. (2008) Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia. |
27. |
Kane MS et al. (2016) Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. |
28. |
Powell LD et al. (1994) Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? |
29. |
Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. |
30. |
Matthijs G et al. (1997) Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). |
31. |
Bjursell C et al. () Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. |
32. |
Matthijs G et al. (1999) Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). |
33. |
Böhles H et al. (2001) Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency). |
34. |
Briones P et al. (2002) Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. |
35. |
Neumann LM et al. (2003) Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation. |
36. |
Stibler H et al. (1978) Abnormal microheterogeneity of transferrin in serum and cerebrospinal fluid in alcoholism. |
37. |
Clayton PT et al. (1992) Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. |
38. |
Heyne K et al. (1992) [Diagnosis and nosology of glycanosis CDG ("carbohydrate deficient glycoprotein syndrome")]. |
39. |
Wada Y et al. (1992) Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. |
40. |
Ohno K et al. (1992) The carbohydrate deficient glycoprotein syndrome in three Japanese children. |
41. |
Harrison HH et al. (1992) Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis? |
42. |
Strömland K et al. (1990) Ocular pathology in disialotransferrin developmental deficiency syndrome. |
43. |
Andréasson S et al. (1991) Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome. |
44. |
Jaeken J et al. (1991) The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. |
45. |
Horslen SP et al. (1991) Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. |
46. |
Stibler H et al. (1990) Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. |
47. |
Kristiansson B et al. (1989) Disialotransferrin developmental deficiency syndrome. |
48. |
Jaeken J et al. (1987) An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins. |
49. |
Harding BN et al. (1988) Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. |
50. |
Agamanolis DP et al. (1986) Lipoprotein disorder, cirrhosis, and olivopontocerebellar degeneration in two siblings. |
51. |
Jaeken J et al. (1984) Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. |
52. |
Fiumara A et al. (1994) Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients. |
53. |
Martinsson T et al. (1994) Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. |
54. |
Hagberg BA et al. () Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. |
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OMIM.ORG article Omim 212065 |