CDG CARE

Cycle 3

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CDG stands for Congenital Disorders of Glycosylation. CDGs are a large group of rare inherited diseases affecting glycosylation.

Last updated 04/30/2025

Clinical

Disease Class

Allergic disease

Bone diseases

Cardiac diseases

Cardiac malformations

Channelopathies

Circulatory system diseases

Developmental anomalies during embryogenesis

Disorder without a determined diagnosis after full investigation

Endocrine diseases

Gastroenterological diseases

Genetic diseases

Gynecological and obstetric diseases

Hematological diseases

Hepatic diseases

Immunological diseases

Infertility

Inherited metabolic disorder

Neurological diseases

Odontological diseases

Ophthalmic diseases

Renal diseases

Respiratory diseases

Skin diseases

Urogenital diseases

Body Systems

Cardiovascular / Circulatory

Digestive

Endocrine

Hematopoietic / Lymphatic / Immune

Integumentary / Exocrine

Metabolic

Muscular / Skeletal

Nervous / Sensory

Reproductive

Respiratory

Organs

Blood

Bone marrow

Bones

Brain

Connective tissue / joints

Ears

Esophagus

Eyes

Heart

Intestines

Kidneys

Liver

Lungs

Muscles

Nerves

Ovaries

Pancreas

Stomach

Testes

Thyroid

Known Genetic Link

Yes, one or more genes directly cause the condition

causative_genes

A4GALT

ALDOB

ALG1

ALG10

ALG11

ALG12

ALG13

ALG14

ALG2

ALG3

ALG5

ALG6

ALG8

ALG9

ARV1

ATP6AP1

ATP6AP2

ATP6V0A2

ATP6V1A

ATP6V1E1

B3GALNT2

B3GALT6

B3GAT3

B3GLCT

B4GALNT1

B4GALT1

B4GALT7

B4GAT1 (B3GNT1)

BPNT2

CAD

CAMLG

CANT1

CHST11

CHST14

CHST3

CHST6

CHSY1

COG1

COG2

COG3

COG4

COG5

COG6

COG7

COG8

COLGALT1

CRPPA (ISPD)

CSGALNACT1

DDOST

DHDDS

DOLK

DPAGT1

DPM1

DPM2

DPM3

DSE

EDEM3

EOGT

EXT1

EXT2

EXTL3

FAM20B

FCSK

FKRP

FKTN

FUT8

G6PC3

GALE

GALK1

GALM

GALNT14

GALNT2

GALNT3

GALT

GANAB

GET3

GET4

GFPT1

GFUS

GMPPA

GMPPB

GNE

GNPNAT1

GNPTAB

GNPTG

GOLGA2

GOSR2

GPAA1

HS2ST1

HS6ST1

HS6ST2

JAGN1

LARGE1

LFNG

LYSET

MAGT1

MAN1B1

MAN2A2

MAN2B2

MAN2C1

MGAT2

MOGS

MPDU1

MPI

NANS

NDST1

NGLY1

NPL

NUS1

OGT

OSTC

PAPSS2

PGAP1

PGAP2

PGAP3

PGM1

PGM3

PIGA

PIGB

PIGC

PIGF

PIGG

PIGH

PIGK

PIGL

PIGM

PIGN

PIGO

PIGP

PIGQ

PIGS

PIGT

PIGU

PIGV

PIGW

PIGY

PMM2

POFUT1

POGLUT1

POMGNT1 (LGMD2K)

POMGNT2 (GTDC2)

POMK (SGK196)

POMT1

POMT2

PRKCSH

RFT1

RXYLT1 (TMEM5)

SEC23B

SEC63

SLC10A7

SLC26A2

SLC35A1

SLC35A2

SLC35A3

SLC35B2

SLC35C1

SLC35D1

SLC37A4

SLC39A8

SLC9A7

SRD5A3

SSR3

SSR4

ST3GAL3

ST3GAL5

STT3A

STT3B

STX5

TGDS

TMEM165

TMEM260

TMTC3

TRAPPC11

TRAPPC9

TREX1

TRIP11

TUSC3

UGDH

UGP2

VMA12

VMA21

VMA22

VPS13B

VPS51

VPS53

XYLT1

XYLT2

contributory_genes

None specified / unknown

Type of Inheritance

Autosomal dominant

Autosomal recessive

De novo

X-linked dominant

X-linked recessive

Newborn Screening

Disease Mechanism(s)

Glycosylation disorder

Age of Onset

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Average Age at Diagnosis

Early childhood (age 1+-5)

Middle childhood (6-11)

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Affected Sex(es)

Female

Male

National Prevalence

1001-10000

Global Prevalence

1001-10000

National Incidence

Less than 10

Global Incidence

Less than 10

Populations and/or ancestry with higher prevalence

CDG patients exist worldwide. The most common genetic cause (PMM2-CDG) has a high carrier frequency among individuals of European ancestry, whereas GPI-CDG types are more frequently reported in individuals of Asian ancestry. Additionally, regions with high rates of consanguineous marriage, such as parts of the Middle East and North Africa—including Egyptian communities around Cairo—have been observed to have an increased incidence of CDG types inherited in an autosomal recessive manner. Consanguinity increases the likelihood of inheriting rare genetic disorders, including various congenital disorders of glycosylation (CDG), due to the higher probability of both parents carrying the same pathogenic variants.

Symptoms / Phenotypes

abnormal brain features

abnormal breast morphology

abnormal digit morphology

abnormal ear morphology

abnormal eye morphology

abnormal facial shape

abnormal heart morphology

abnormal skeletal morphology

cardiac abnormalities

cerebellar atrophy

cerebral atrophy

clubfoot/talipes equinovarus

craniofacial abnormalities

decreased liver function

developmental delay

diarrhea

digital ischemia

enlarged liver / hepatomegaly

feeding difficulties

gastroesophageal reflux

gastrointestinal disorders

hyperlaxity / joint laxity

hypotonia

intellectual disability

liver disease

microcephaly

movement disorders / ataxia / tremor

osteopenia

seizures / epilepsy

splenomegaly

vision problems

vomiting / nausea

Biomarkers

Diagnostic

· transferrin glycosylation, plasma/serum glycomics & glycoproteomics, antibodies

Monitoring

· transferrin glycosylation, plasma/serum glycomics & glycoproteomics, antibodies

Prognostic

· transferrin glycosylation, plasma/serum glycomics & glycoproteomics, antibodies

Therapeutic

· transferrin glycosylation, plasma/serum glycomics & glycoproteomics, antibodies

Existing Therapies

Complementary and Alternative treatments

· Some CDG have been treated with monosaccharide supplements, most notably are mannose supplementation for MPI-CDG, and also galactose supplementation of PGM1-CDG and SLC35A2-CDG, and fucose supplementation for SLC35C1-CDG. Manganese supplementation has been used for SLC39A8-CDG.

FDA-Approved for Symptom Relief

· Medications for seizures, constipation, and endocrinologic manifestations

Off-Label Drug Use

Other

· Organ transplant may be helpful in some CDG and for some organ dysfunction, such as liver failure, heart failure/cardiomyopathy, and immunodeficiency

Organizational & Research

Cell Lines

None

Disease Model

C. elegans

Drosophila/fly

Organoids

Yeast

Disease Model, Involvement

Consulted

Designed

Funded

Own

Disease Model, share

Some of our disease models are freely available

Clinical Trial Role

Funding

Meeting with regulators

Recruitment and outreach, patients

Biobank, Institution

None

Center of Excellence, Institution

Baylor College of Medicine

Boston Children's Hospital

Children's Hospital of Colorado

Children's Hospital of Pittsburgh

Childrens Hospital of Minnesota

Children’s Hospital of Philadelphia (CHOP)

Mayo Clinic

Mt. Sinai

Seattle Children's Hospital

Tulane University

University of Alabama

University of North Carolina (UNC)

Center of Excellence, Involvement

Consulted

Endorsed/Certified/Accredited

Registry

Yes, we have a registry that we created

Data Collected, Registry

Clinical data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Patients

Platform, Registry

Invitae Patient Insights Network

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Electronic health records/electronic medical records

Genetic data

Imaging data

Medication usage

Patient-reported outcomes

Prospective data

Retrospective data

Platform, Natural History Study

REDCap

FDA Patient Listening Session

Yes

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

We use an ICD-10 code capturing the family of diseases to which our disease belongs

Diagnostic Guidelines

Yes, we have published formal guidelines in a peer-reviewed journal

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Does not have a CRN

Research Roadmap

We don't have a Research Roadmap

International Chapters

None

International Partners

Africa

Europe

North America

South America