ORPHA:468699
SLC39A8-CDG
Also known as: CDG syndrome type IIn · CDG-IIn · CDG2N · Carbohydrate deficient glycoprotein syndrome type IIn · Congenital disorder of glycosylation type 2n · Congenital disorder of glycosylation type IIn · SLC39A8 deficiency
Publications
2,048
Trials
0
Interventional, condition-specific
Researchers
710
Distinct authors in sample
Gene link
SLC39A8
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of glycosylation characterized by onset of global , severe , , and variable additional features including short stature, cranial asymmetry, , strabismus, recurrent infections, and osteopenia, among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialo- and increased asialo-, monosialo-, disialo, and trisialo-transferrin, consistent with a type II disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.
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:0014746
- OMIM:616721
- UMLS:C4225234
Additional Mondo synonyms (4)
carbohydrate deficient glycoprotein syndrome type IIn · congenital disorder of glycosylation type 2n · congenital disorder of glycosylation type IIn · congenital disorder of glycosylation, type IIn
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.”
3/6 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 — SLC39A8
- LiteraturePresent
2,048 matched papers (1,630 in last 10 years) Source
- Phenotype characterisedPresent
63 HPO annotations (e.g. Severe muscular hypotonia; Abnormal circulating zinc concentration; Type II transferrin isoform profile) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (SLC39A8).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
63
Associated phenotypes · MONDO:0014746
- Severe muscular hypotonia
- Abnormal circulating zinc concentration
- Type II transferrin isoform profile
- Profound global developmental delay
- Hypomanganesemia
Showing 5 of 63 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
2,048
2,048 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,048 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
1,630 in the last 10 years · low confidence
Phrase hits: 100 · MeSH hits: 0
Who's working on it?
710
Distinct author names in 100 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 E11 papers · 2024
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Leuven B-3000, Belgium.
Papers in Europe PMC - 02Park JH10 papers · 2025
Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Muenster, Muenster, Germany.
Papers in Europe PMC - 03Jaeken J9 papers · 2026
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Leuven B-3000, Belgium.
Papers in Europe PMC - 04Ferreira CR7 papers · 2026
Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.
Papers in Europe PMC - 05Marquardt T7 papers · 2021
Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Muenster, Muenster, Germany.
Papers in Europe PMC - 06Freeze HH5 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 - 07Aschner M4 papers · 2025
Laboratory of Ecobiomonitoring and Quality Control, Yaroslavl State University, 150003 Yaroslavl, Russia.
Papers in Europe PMC - 08Bowman AB4 papers · 2025
School of Health Sciences, Purdue University, West Lafayette, IN 47906, USA.
Papers in Europe PMC - 09Cummings RD4 papers · 2022
National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 10Francisco R4 papers · 2023
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisboa, Portugal.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for SLC39A8-CDG — check Associations / patient organisations on that page.
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.
("SLC39A8-CDG" OR "CDG syndrome type IIn" OR "CDG-IIn" OR "CDG2N" OR "Carbohydrate deficient glycoprotein syndrome type IIn" OR "Congenital disorder of glycosylation type 2n" OR "Congenital disorder of the glycosylation type 2n" OR "Congenital disorder of glycosylation type IIn" OR "Congenital disorder of the glycosylation type IIn" OR "SLC39A8 deficiency" OR "congenital disorder of glycosylation, type IIn" OR "congenital disorder of the glycosylation, type IIn") OR ("SLC39A8" OR "SLC39A8 syndrome" OR "SLC39A8-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"SLC39A8-CDG" OR "CDG syndrome type IIn" OR "CDG-IIn" OR "CDG2N" OR "Carbohydrate deficient glycoprotein syndrome type IIn" OR "Congenital disorder of glycosylation type 2n" OR "Congenital disorder of the glycosylation type 2n" OR "Congenital disorder of glycosylation type IIn" OR "Congenital disorder of the glycosylation type IIn" OR "SLC39A8 deficiency" OR "congenital disorder of glycosylation, type IIn" OR "congenital disorder of the glycosylation, type IIn"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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
- Publication count (2048) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T17:05:07.454Z