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ORPHA:1414

Cholestasis-lymphedema syndrome

high confidenceDisorder

Also known as: Aagenaes syndrome

Publications

70

40th percentile

Trials

0

Interventional, condition-specific

Researchers

309

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to , fat soluble vitamin deficiency with bleeding, rickets, and . In 25% of cases, cirrhosis occurs during childhood or later in life.

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.

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    70 matched papers (28 in last 10 years) Source

  3. Phenotype characterisedPresent

    35 HPO annotations (e.g. Elevated circulating alkaline phosphatase concentration; Conjugated hyperbilirubinemia; Malabsorption) 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 trialPartial

    None under the specific name; 453 for broader category lymphedema

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

35

Associated phenotypes · MONDO:0008966

  • Elevated circulating alkaline phosphatase concentration
  • Conjugated hyperbilirubinemia
  • Malabsorption
  • Hyperlipidemia
  • Neonatal cholestatic liver disease

Showing 5 of 35 — 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?

70

70 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=3967) is 59.

70 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).

28 in the last 10 years · high confidence · 40th percentile (publications denominator)

Phrase hits: 70 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

309

Distinct author names in 70 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
    Aagenaes O6 papers · 2014

    Barneavdelingen, Aker sykehus, Oslo.

    Papers in Europe PMC
  2. 02
    Drivdal M5 papers · 2018

    Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway. monica.drivdal@uus.no

    Papers in Europe PMC
  3. 03
    Vikkula M5 papers · 2014

    Human Molecular Genetics, Christian de Duve Institute, Université catholique de Louvain, Brussels, Belgium

    Papers in Europe PMC
  4. 04
    Aagenaes Ø3 papers · 2018

    c Children's Centre , Oslo University Hospital , Oslo , Norway.

    Papers in Europe PMC
  5. 05
    Almaas R3 papers · 2024

    Department of Pediatric Research, Oslo University Hospital, Sognsvannsveien 20, 0372 Oslo, Norway; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway. Electronic address: runar.almaas@ous-hf.no.

    Papers in Europe PMC
  6. 06
    Eiklid K3 papers · 2013
    Papers in Europe PMC
  7. 07
    Knisely AS3 papers · 2013
    Papers in Europe PMC
  8. 08
    Wang Y3 papers · 2018

    Department of Genetics and Tumor Cell Biology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.

    Papers in Europe PMC
  9. 09
    Aronson JK2 papers · 2017

    Centre for Evidence Based Medicine, Nuffield Department of Primary Care Health Sciences, Radcliffe Infirmary, Woodstock Road, Oxford,, OX2 6GG, UK.

    Papers in Europe PMC
  10. 10
    Atneosen-Åsegg M2 papers · 2023

    Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

    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). 453 trials are registered for lymphedema, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

high 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.

453 interventional trials matched lymphedema, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: lymphedema

453

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.

Recruiting under the broader category

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 2026-07-29

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 Cholestasis-lymphedema syndrome — 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.

"Cholestasis-lymphedema syndrome" OR "Aagenaes syndrome"

Run this search on Europe PMC

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

"Cholestasis-lymphedema syndrome" OR "Aagenaes syndrome"

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

Parent-category trials query:

"lymphedema"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T17:16:32.687Z