RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:168454

NANS-CDG

low confidenceDisorder

Also known as: SEMD, Geneviève type · SEMDG · N-acetylneuraminic acid-9-phosphate synthase deficiency · Spondyloepimetaphyseal dysplasia Camera-Genevieve type · Spondyloepimetaphyseal dysplasia, Geneviève type

Publications

4,033

Trials

0

Interventional, condition-specific

Researchers

339

Distinct authors in sample

Gene link

NANS

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Spondyloepimetaphyseal , Geneviève type is a rare primary bone characterized by severe and skeletal (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

spondyloepimetaphyseal dysplasia, Camera-Genevieve type · spondyloepimetaphyseal dysplasia, Genevieve type

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.

  1. Gene identifiedPresent

    Definitive — NANS

  2. LiteraturePresent

    4,033 matched papers (2,661 in last 10 years) Source

  3. Phenotype characterisedPresent

    48 HPO annotations (e.g. Hypoplasia of the corpus callosum; Joint hypermobility; Short stature) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (NANS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

48

Associated phenotypes · MONDO:0012495

  • Hypoplasia of the corpus callosum
  • Joint hypermobility
  • Short stature
  • Generalized hypotonia
  • Prominent forehead

Showing 5 of 48 — 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?

4,033

4,033 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.

4,033 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).

2,661 in the last 10 years · low confidence

Phrase hits: 42 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

339

Distinct author names in 42 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.

  1. 01
    Lefeber DJ9 papers · 2026

    Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.

    Papers in Europe PMC
  2. 02
    van Karnebeek CDM7 papers · 2026

    Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands. clara.vankarnebeek@radboudumc.nl.

    Papers in Europe PMC
  3. 03
    Wevers RA6 papers · 2020

    Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.

    Papers in Europe PMC
  4. 04
    Coene KLM5 papers · 2023

    Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands. Karlien.Coene@radboudumc.nl.

    Papers in Europe PMC
  5. 05
    Jaeken J4 papers · 2023

    Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal. jaak.jaeken@kuleuven.be.

    Papers in Europe PMC
  6. 06
    Kluijtmans LAJ4 papers · 2021

    Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.

    Papers in Europe PMC
  7. 07
    Morava E4 papers · 2023

    Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium; Department of Anatomy and Department of Genetics, University of Pecs Medical School, Pecs, Hungary. Electronic address: morava-kozicz.eva@mayo.edu.

    Papers in Europe PMC
  8. 08
    Andreotti G3 papers · 2023

    Istituto di Chimica Biomolecolare-Consiglio Nazionale delle Ricerche (CNR), 80078 Pozzuoli, Italy. gandreotti@icb.cnr.it.

    Papers in Europe PMC
  9. 09
    Da Silva A3 papers · 2026

    Sainte-Justine University Hospital Research Center, University of Montreal, Montreal, Quebec, Canada.

    Papers in Europe PMC
  10. 10
    Engelke UFH3 papers · 2021

    Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.

    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 NANS-CDG — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("NANS-CDG" OR "SEMD, Geneviève type" OR "SEMDG" OR "N-acetylneuraminic acid-9-phosphate synthase deficiency" OR "Spondyloepimetaphyseal dysplasia Camera-Genevieve type" OR "Spondyloepimetaphyseal dysplasia, Geneviève type" OR "spondyloepimetaphyseal dysplasia, Camera-Genevieve type" OR "spondyloepimetaphyseal dysplasia, Genevieve type") OR (MESH:"Spondyloepimetaphyseal dysplasia, Genevieve type") OR ("NANS" OR "NANS syndrome" OR "NANS-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spondyloepimetaphyseal dysplasia, Genevieve type

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"NANS-CDG" OR "SEMD, Geneviève type" OR "SEMDG" OR "N-acetylneuraminic acid-9-phosphate synthase deficiency" OR "Spondyloepimetaphyseal dysplasia Camera-Genevieve type" OR "Spondyloepimetaphyseal dysplasia, Geneviève type" OR "spondyloepimetaphyseal dysplasia, Camera-Genevieve type" OR "spondyloepimetaphyseal dysplasia, Genevieve type"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (4033) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T08:26:07.371Z