Human Disease Model Report: congenital disorder of glycosylation, type Ij

General Information

Name

congenital disorder of glycosylation, type Ij

FlyBase ID

FBhh0001482

Disease Ontology Term

congenital disorder of glycosylation Ij

Parent Disease

congenital disorders of glycosylation, type I

OMIM

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J

Overview

This report describes congenital disorder of glycosylation, type Ij, a subtype of congenital disorders of glycosylation, type I that exhibits autosomal recessive inheritance. The human gene implicated is DPAGT1, which encodes an enzyme in the N-linked protein glycosylation pathway. There is a single high-scoring fly ortholog, Dmel\Alg7, for which classical alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.

The human DPAGT1 gene has not been introduced into flies.

RNAi knockdown of Dmel\Alg7 in the developing eye results in a neurodegenerative phenotype.

[updated Nov. 2022 by FlyBase; FBrf0222196]

Disease Summary Information

Parent Disease Summary: congenital disorders of glycosylation, type I

Symptoms and phenotype

Specific Disease Summary: congenital disorder of glycosylation, type Ij

OMIM report

[CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J](https://omim.org/entry/608093)

Human gene(s) implicated

[DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; DPAGT1](https://omim.org/entry/191350)

Symptoms and phenotype

Congenital disorder of glycosylation, type Ij is characterized by hypotonia, intractable seizures, developmental delay, skeletal anomalies, and microcephaly. [Gene Reviews, Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview; 2022.11.03]

(FlyBase Curators, 2013-)

Genetics

Congenital disorder of glycosylation type Ij is caused by homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP- GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. [from MIM:608093; 2022.11.03]

(OMIM, 2013-)

Cellular phenotype and pathology

Molecular information

The DPAGT1 gene encodes Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1, which catalyzes the initial step of dolichol-linked oligosaccharide biosynthesis in the N-linked protein glycosylation pathway: transfers GlcNAc-1-P from UDP-GlcNAc onto the carrier lipid dolichyl phosphate (P-dolichol), yielding GlcNAc-P-P-dolichol. [from Uniprot:Q9H3H5; 2022.11.03]

(FlyBase Curators, 2013-)

External links

Gene2Function (human gene): DPAGT1
Gene Cards: DPAGT1
GeneReviews, NCBI Bookshelf: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
MedlinePlus (gene): DPAGT1
KEGG Disease Pathways: Congenital disorders of glycosylation type I
MARRVEL (human gene): DPAGT1
NCBI MedGen: DPAGT1-congenital disorder of glycosylation
NCBI (Entrez) gene: DPAGT1; dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
National Organization for Rare Disorders: Congenital Disorders of Glycosylation
National Organization for Rare Disorders: NIH GARD Information: DPAGT1-CDG (CDG-Ij)

Disease synonyms

CDG1J

CDG Ij

DPAGT1-CDG (CDG-Ij)

Related Diseases

Related human health report(s)

Related Specific Diseases

OMIM phenotypic series

Congenital disorders of glycosylation, type I

Disease

Associated Human gene(s)

Drosophila model

Human transgene in Drosophila

[ARCL2A](https://omim.org/entry/219200)

[ATP6V0A2](https://omim.org/entry/611716)

[CDG1A](https://omim.org/entry/212065)

[PMM2](https://omim.org/entry/601785)

congenital disorder of glycosylation, type Ia

[CDG1AA](https://omim.org/entry/617082)

[NUS1](https://omim.org/entry/610463)

[CDG1B](https://omim.org/entry/602579)

[MPI](https://omim.org/entry/154550)

[CDG1C](https://omim.org/entry/603147)

[ALG6](https://omim.org/entry/604566)

[CDG1D](https://omim.org/entry/601110)

[ALG3](https://omim.org/entry/608750)

[CDG1E](https://omim.org/entry/608799)

[DPM1](https://omim.org/entry/603503)

[CDG1F](https://omim.org/entry/609180)

[MPDU1](https://omim.org/entry/604041)

[CDG1G](https://omim.org/entry/607143)

[ALG12](https://omim.org/entry/607144)

[CDG1H](https://omim.org/entry/608104)

[ALG8](https://omim.org/entry/608103)

[CDG1I](https://omim.org/entry/607906)

[ALG2](https://omim.org/entry/607905)

[CDG1J](https://omim.org/entry/608093)

[DPAGT1](https://omim.org/entry/191350)

congenital disorder of glycosylation, type Ij

[CDG1K](https://omim.org/entry/608540)

[ALG1](https://omim.org/entry/605907)

[CDG1L](https://omim.org/entry/608776)

[ALG9](https://omim.org/entry/606941)

[CDG1M](https://omim.org/entry/610768)

[DOLK](https://omim.org/entry/610746)

[CDG1N](https://omim.org/entry/612015)

[RFT1](https://omim.org/entry/611908)

[CDG1P](https://omim.org/entry/613661)

[ALG11](https://omim.org/entry/613666)

[CDG1Q](https://omim.org/entry/612379)

[SRD5A3](https://omim.org/entry/611715)

[CDG1R](https://omim.org/entry/614507)

[DDOST](https://omim.org/entry/602202)

[CDG1T](https://omim.org/entry/614921)

[PGM1](https://omim.org/entry/171900)

[CDG1U](https://omim.org/entry/615042)

[DPM2](https://omim.org/entry/603564)

[CDG1WAR](https://omim.org/entry/615596)

[STT3A](https://omim.org/entry/601134)

[CDG1X](https://omim.org/entry/615597)

[STT3B](https://omim.org/entry/608605)

[CDG1Y](https://omim.org/entry/300934)

[SSR4](https://omim.org/entry/300090)

[DEE36](https://omim.org/entry/300884)

[ALG13](https://omim.org/entry/300776)

[MDDGC15](https://omim.org/entry/612937)

[DPM3](https://omim.org/entry/605951)

Ortholog Information

Human gene(s) in FlyBase

Human gene (HGNC)

Symbol / Name

DPAGT1; dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

D. melanogaster ortholog (based on DIOPT)

Dmel\Alg7

(DIOPT, 2013-)

Comments on ortholog(s)

One to one (1 human to 1 Drosophila).

Other mammalian ortholog(s) used

D. melanogaster Gene Information (1)

Dmel\Alg7

Gene Snapshot

ALG7 dolichyl-phosphate N-acetylglucosaminephosphotransferase (Alg7) encodes an endoplasmic reticulum (ER) transmembrane enzyme that adds the first N-acetyl-α-D-glucosamine (GlcNAc) to the lipid carrier dolichol phosphate on the cytosolic face of the ER. This is the first step in the synthesis of dolichol-linked oligosaccharide, the precursor required for N-linked protein glycosylation. [Date last reviewed: 2025-06-19]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

High-scoring ortholog of human DPAGT1 (1 Drosophila to 1 human).

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Other Genes Used: Viral, Bacterial, Synthetic (0)

Summary of Physical Interactions (0 groups)

Alg7

Alleles Reported to Model Human Disease (Disease Ontology) (1 alleles)