TMEM165-congenital disorder of glycosylation
Findings
No curated finding names TMEM165-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).
Definition from the Mondo Disease Ontology (MONDO:0013870), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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.
- Diaphyseal dysplasiaHPOHP:0100252
- 3 of 3 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 4 of 4 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 4 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 5 of 5 reported patients
- Growth delayHPOHP:0001510
- 5 of 5 reported patients
- HepatomegalyHPO
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.
- TMEM165HGNC:30760
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2026
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
7 names
Resolves to: TMEM165-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IIkCDG syndrome type IIkCDG-IIkCDG2Kcongenital disorder of glycosylation type 2kcongenital disorder of glycosylation type IIkTMEM165-CDG