congenital disorder of glycosylation, type IIw
MONDO:0030437Mondo
Findings
No curated finding names congenital disorder of glycosylation, type IIw yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
60 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.
- Abnormal protein N-linked glycosylationHPOHP:0012347
- 7 of 7 reported patients
- Abnormal protein O-linked glycosylationHPOHP:0012358
- 7 of 7 reported patients
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Bilateral choanal atresiaHPOHP:0004502
- 1 of 1 reported patient
- Bile duct proliferationHPOHP:0001408
- 1 of 1 reported patient
- Bleeding with minor or no traumaHPOHP:0011889
- 1 of 1 reported patient
- Concave nasal ridgeHPOHP:0011120
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 2 of 2 reported patients
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 8 of 8 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
Show the remaining 48
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 1 of 1 reported patient
- Facial asymmetryHPOHP:0000324
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Hepatic steatosisHPOHP:0001397
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
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.
- SLC37A4HGNC:4061
- Definitive · G2P · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Natera · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: congenital disorder of glycosylation, type IIw
- Also called
- CDG2W