Congenital disorder of glycosylation type 1A
A genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of ASPARAGINE (N)-linked glycans or OLIGOSACCHARIDES on GLYCOPROTEINS. Affected individuals exhibit a range of growth, neuromuscular, eye, liver, immunologic, and gastrointestinal abnormalities; 20% die in the first year of life due to infections, HEPATIC INSUFFICIENCY or CARDIOMYOPATHY. Mutations have been identified in the PMM2 gene for type Ia. OMIM: 212065
Also Known As:
Carbohydrate-Deficient Glycoprotein Syndrome Type Ia; Carbohydrate-deficient glycoprotein syndrome type 1A; Congenital Disorder of Glycosylation Type Ia; Congenital Disorder of Glycosylation, Type Ia; Jaeken syndrome; PMM2 deficiency; Phosphomannomutase 2 deficiency; Pmm2-CDG
Networked: 113
relevant articles (2 outcomes,
7 trials/studies)
Relationship Network
Bio-Agent Context: Research Results
Experts
1. | Jaeken, Jaak:
16 articles
(02/2022 - 04/2011)
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2. | Morava, Eva:
16 articles
(01/2022 - 01/2012)
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3. | Serrano, Mercedes:
11 articles
(01/2021 - 10/2015)
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4. | Pérez, Belén:
9 articles
(10/2022 - 10/2015)
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5. | Witters, Peter:
6 articles
(12/2021 - 01/2019)
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6. | Barone, Rita:
6 articles
(08/2021 - 08/2011)
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7. | Cuadras, Daniel:
6 articles
(01/2019 - 10/2015)
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8. | Pérez-Dueñas, Belén:
6 articles
(12/2018 - 10/2015)
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9. | De Lonlay, Pascale:
5 articles
(09/2022 - 12/2014)
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10. | Cassiman, David:
5 articles
(12/2021 - 03/2014)
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Related Diseases
1. | Ataxia (Dyssynergia)
10/26/2015
- " We aim to assess the validity of the International Cooperative Ataxia Rating Scale (ICARS) in children and adolescents with genetically confirmed PMM2-CDG deficiency. " 08/01/2021
- " Twenty-six PMM2-CDG patients (12 males; mean age 13 ± 11.1 years) underwent a standardized assessment to measure ADL, ataxia (brief ataxia rating scale, BARS) and phenotype severity (Nijmegen CDG rating scale, NCRS). " 10/11/2022
- " Here, a novel genetic variation causing PMM2-CDG is reported. CASE PRESENTATION: We report the case of a French child, from healthy and unrelated parents, presenting congenital ataxia with hypotonia, hyperlaxity, inverted nipples, as well as altered coagulation parameters and liver function. " 12/01/2021
- " In the child with PMM2-CDG on epalrestat treatment, ataxia scores improved together with significant growth improvement. " 02/22/2018
- " CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients. "
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2. | Hemorrhage
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3. | Congenital Disorders of Glycosylation
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4. | Atrophy
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5. | Stroke (Strokes)
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Related Drugs and Biologics
Related Therapies and Procedures