ORPHA:314667
TMEM165-CDG
Also known as: Carbohydrate deficient glycoprotein syndrome type IIk · Congenital disorder of glycosylation type 2k · Congenital disorder of glycosylation type IIk · CDG syndrome type IIk · CDG-IIk · CDG2K
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
80
59.5th percentile
Trials
0
Interventional, condition-specific
Researchers
512
Distinct authors in sample
Gene link
TMEM165
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
TMEM165-CDG is a form of 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).
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013870
- OMIM:614727
- UMLS:C3553571
Additional Mondo synonyms (4)
TMEM165-congenital disorder of glycosylation · carbohydrate deficient glycoprotein syndrome type IIk · congenital disorder of glycosylation type 2k · congenital disorder of glycosylation type IIk
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — TMEM165
- LiteraturePresent
80 matched papers (68 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (TMEM165).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
80
80 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
80 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
68 in the last 10 years · medium confidence · 59.5th percentile (publications denominator)
Phrase hits: 80 · MeSH hits: 0
Who's working on it?
512
Distinct author names in 80 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Morava E17 papers · 2025
Department of Pediatrics, University of Leuven, 3000 Leuven, Belgium; Hayward Genetics Center, Department of Pediatrics, Tulane University Medical School, New Orleans, LA 70112, USA.
Papers in Europe PMC - 02Foulquier F15 papers · 2025
Structural and Functional Glycobiology Unit, UMR CNRS/USTL 8576, IFR 147, University of Lille 1, Villeneuve d'Ascq, France.
Papers in Europe PMC - 03Jaeken J11 papers · 2026
Center for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium.
Papers in Europe PMC - 04Witters P8 papers · 2025
Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium.
Papers in Europe PMC - 05Matthijs G7 papers · 2017
Center for Human Genetics, University of Leuven, Leuven, Belgium.
Papers in Europe PMC - 06Freeze HH6 papers · 2024
Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address: hudson@sbpdiscovery.org.
Papers in Europe PMC - 07Cassiman D5 papers · 2025
Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium.
Papers in Europe PMC - 08He M5 papers · 2022
Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 09Houdou M5 papers · 2022
Univ Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Lille, F-59000, France.
Papers in Europe PMC - 10Legrand D5 papers · 2024
Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F- 59000 Lille, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"TMEM165-CDG" OR "Carbohydrate deficient glycoprotein syndrome type IIk" OR "Congenital disorder of glycosylation type 2k" OR "Congenital disorder of the glycosylation type 2k" OR "Congenital disorder of glycosylation type IIk" OR "Congenital disorder of the glycosylation type IIk" OR "CDG syndrome type IIk" OR "CDG-IIk" OR "CDG2K" OR "TMEM165-congenital disorder of glycosylation" OR "TMEM165-congenital disorder of the glycosylation"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"TMEM165-CDG" OR "Carbohydrate deficient glycoprotein syndrome type IIk" OR "Congenital disorder of glycosylation type 2k" OR "Congenital disorder of the glycosylation type 2k" OR "Congenital disorder of glycosylation type IIk" OR "Congenital disorder of the glycosylation type IIk" OR "CDG syndrome type IIk" OR "CDG-IIk" OR "CDG2K" OR "TMEM165-congenital disorder of glycosylation" OR "TMEM165-congenital disorder of the glycosylation" OR "TMEM165"
Recall-expansion terms: TMEM165
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T13:11:37.845Z