Congenital Disorder of Glycosylation, Type Id (CDG1D)

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OMIM®: ⁵⁷ Congenital disorders of glycosylation (CDGs) are 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. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017). For a discussion of the classification of CDGs, see CDG1A (212065). (601110) (Updated 08-Dec-2022)

MalaCards based summary: Congenital Disorder of Glycosylation, Type Id, also known as cdg1d, is related to developmental and epileptic encephalopathy 36 and congenital disorder of glycosylation, type in, and has symptoms including vomiting, diarrhea and seizures. An important gene associated with Congenital Disorder of Glycosylation, Type Id is ALG3 (ALG3 Alpha-1,3- Mannosyltransferase). Affiliated tissues include liver, brain and pons, and related phenotypes are abnormal enzyme/coenzyme activity and hypotonia

Orphanet: ⁵⁸ A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).

UniProtKB/Swiss-Prot: ⁷³ A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

Disease Ontology: ¹¹ A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has material basis in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Congenital Disorder of Glycosylation, Type Id