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ORPHA:168454

NANS-CDG

medium 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

42

49.1th percentile

Trials

1

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — NANS

  2. LiteraturePresent

    42 matched papers (39 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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)

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?

42

42 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.

42 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).

39 in the last 10 years · medium confidence · 49.1th percentile (publications denominator)

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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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"

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" OR "NANS"

Recall-expansion terms: NANS

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 2026-07-27T08:26:07.371Z