TMEM199-CDG
MONDO:0014790Mondo
Findings
No curated finding names TMEM199-CDG yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
18 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
- 4 of 4 reported patients
- Copper accumulation in liverHPOHP:0025321
- 3 of 3 reported patients
- Decreased circulating ceruloplasmin concentrationHPOHP:0010837
- 7 of 7 reported patients
- Decreased circulating copper concentrationHPOHP:0011967
- 3 of 3 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 7 of 7 reported patients
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 7 of 7 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 7 of 7 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 3 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 4 of 4 reported patients
- Hepatic steatosisHPOHP:0001397
- 5 of 5 reported patients
- Type II transferrin isoform profileHPOHP:0012301
- 7 of 7 reported patients
- Elevated circulating LDL-C concentrationHPOHP:0003141
- 6 of 7 reported patients
Show the remaining 6
- HypercholesterolemiaHPOHP:0003124
- 6 of 7 reported patients
- Abnormal protein O-linked glycosylationHPOHP:0012358
- 3 of 4 reported patients
- Hepatic fibrosisHPOHP:0001395
- 5 of 7 reported patients
- HepatomegalyHPOHP:0002240
- 3 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 7 reported patients
- HypotoniaHPOHP:0001252
- 1 of 7 reported patients
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.
- VMA12HGNC:18085
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: TMEM199-CDG
- Also called
- carbohydrate deficient glycoprotein syndrome type IIpCDG syndrome type IIpCDG-IIpCDG2Pcongenital disorder of glycosylation type 2pcongenital disorder of glycosylation type IIpcongenital disorder of glycosylation, type IIp