MPDU1-congenital disorder of glycosylation
Findings
No curated finding names MPDU1-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
Definition from the Mondo Disease Ontology (MONDO:0012211), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Severe global developmental delayHPOHP:0011344
- 3 of 3 reported patients
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Type I transferrin isoform profileHPOHP:0003642
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 2 of 3 reported patients
Show the remaining 16
- Erythematous plaqueHPOHP:0025474
- Occasional (5% to 29% of cases)
- Feeding difficultiesHPOHP:0011968
- 1 of 3 reported patients
- Occasional (5% to 29% of cases)
- HypertoniaHPOHP:0001276
- 1 of 3 reported patients
- Occasional (5% to 29% of cases)
- HypsarrhythmiaHPOHP:0002521
- 1 of 3 reported patients
- Occasional (5% to 29% of cases)
- IchthyosisHPOHP:0008064
- Occasional (5% to 29% of cases)
- Nasogastric tube feedingHPOHP:0040288
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MPDU1HGNC:7207
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: MPDU1-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IfCDG syndrome type IfCDG-IfCDG1FCDGIfcongenital disorder of glycosylation type 1fcongenital disorder of glycosylation type IfMPDU1-CDG