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ORPHA:99843

Leukocyte adhesion deficiency type II

low confidenceSubtype of disorder

Also known as: CDG syndrome type IIc · CDG-IIc · CDG2C · LAD-II · Rambam-Hasharon syndrome · SLC35C1-CDG

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

768

Trials

3

Interventional, condition-specific

Researchers

1,006

Distinct authors in sample

Gene link

SLC35C1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A form of leukocyte adhesion deficiency (LAD) characterized by recurrent bacterial infections, severe growth delay, and severe intellectual deficit.

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 (10)

CDG IIc · CDGIIc · LAD2 · RHS · lad-II · lad-type II · leukocyte adhesion deficiency type 2 · leukocyte adhesion deficiency type II · leukocyte adhesion deficiency, type II · sialyl-Lewis X defect

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SLC35C1

  2. LiteraturePresent

    768 matched papers (444 in last 10 years) Source

  3. Phenotype characterisedPresent

    93 HPO annotations (e.g. Echolalia; Abnormal circulating amino acid concentration; Prominent fingertip pads) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (2 recruiting in sample)

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 (SLC35C1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

93

Associated phenotypes · MONDO:0009953

  • Echolalia
  • Abnormal circulating amino acid concentration
  • Prominent fingertip pads
  • Brachydactyly
  • Short stature

Showing 5 of 93 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0009953

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

768

768 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.

768 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).

444 in the last 10 years · low confidence

Phrase hits: 456 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,006

Distinct author names in 200 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
    Freeze HH17 papers · 2024

    Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

    Papers in Europe PMC
  2. 02
    Etzioni A15 papers · 2019

    Ruth Children's Hospital and Rappaport Faculty of Medicine, The Technion, Haifa, Israel.

    Papers in Europe PMC
  3. 03
    Lefeber DJ11 papers · 2026

    Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands

    Papers in Europe PMC
  4. 04
    Morava E11 papers · 2024

    Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium. peter.witters@uzleuven.be.

    Papers in Europe PMC
  5. 05
    Jaeken J10 papers · 2026

    Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.

    Papers in Europe PMC
  6. 06
    Ng BG9 papers · 2024

    Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

    Papers in Europe PMC
  7. 07
    Marquardt T8 papers · 2021

    Department of General Pediatrics, University of Münster, Münster, Germany.

    Papers in Europe PMC
  8. 08
    Ferreira CR7 papers · 2026

    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  9. 09
    Tonetti M7 papers · 2005
    Papers in Europe PMC
  10. 10
    Videira PA7 papers · 2024

    Centro de Estudos de Doenças Crónicas, CEDOC, NOVA Medical School / Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Lisbon, Portugal. p.videira@fct.unl.pt.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 9 trials are registered for leukocyte adhesion deficiency, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: leukocyte adhesion deficiency

9

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Leukocyte adhesion deficiency type II — 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.

("Leukocyte adhesion deficiency type II" OR "CDG syndrome type IIc" OR "CDG-IIc" OR "CDG2C" OR "LAD-II" OR "Rambam-Hasharon syndrome" OR "SLC35C1-CDG" OR "CDG IIc" OR "CDGIIc" OR "lad-type II" OR "leukocyte adhesion deficiency type 2" OR "leukocyte adhesion deficiency, type II" OR "sialyl-Lewis X defect") OR (MESH:"Congenital disorder of glycosylation, type 2C") OR ("SLC35C1" OR "SLC35C1 syndrome" OR "SLC35C1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Congenital disorder of glycosylation, type 2C

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

"Leukocyte adhesion deficiency type II" OR "CDG syndrome type IIc" OR "CDG-IIc" OR "CDG2C" OR "LAD-II" OR "Rambam-Hasharon syndrome" OR "SLC35C1-CDG" OR "CDG IIc" OR "CDGIIc" OR "lad-type II" OR "leukocyte adhesion deficiency type 2" OR "leukocyte adhesion deficiency, type II" OR "sialyl-Lewis X defect" OR "Congenital disorder of glycosylation, type 2C"

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

Study-type breakdown: 3 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"leukocyte adhesion deficiency"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LAD2; RHS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (768) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T06:22:19.422Z