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ORPHA:98907

Neutral lipid storage disease with ichthyosis

low confidenceDisorder

Also known as: CDS · Chanarin-Dorfman syndrome · DCS · Dorfman-Chanarin syndrome · NLSDI

Publications

1,716

Trials

0

Interventional, condition-specific

Researchers

1,079

Distinct authors in sample

Gene link

ABHD5

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A form of neutral lipid storage disease characterized by the accumulation of lipid vacuoles in granulocytes (so-called Jordan's anomaly) and a variety of other cell types. Clinically, the skin symptoms with ichthyosiform erythroderma and scaling are initially in the foreground. Later, steatosis hepatis, and muscle weakness develop. Other manifestations include growth delay, cataracts, sensorineural hearing loss, and bowel disease.

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)

Chanarin-Dorfman Syndrome · neutral lipid storage disease with ichthyosis

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — ABHD5

  2. LiteraturePresent

    1,716 matched papers (1,206 in last 10 years) Source

  3. Phenotype characterisedPresent

    48 HPO annotations (e.g. Gait disturbance; Congenital nonbullous ichthyosiform erythroderma; Progressive proximal muscle weakness) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. urea Source

  6. Interventional trialPartial

    None under the specific name; 3 for broader category neutral lipid storage disease

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 (ABHD5).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

48

Associated phenotypes · MONDO:0010155

  • Gait disturbance
  • Congenital nonbullous ichthyosiform erythroderma
  • Progressive proximal muscle weakness
  • Small earlobe
  • Sensorineural hearing impairment

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA ureaErythroderma Epidermolytic hyperkeratosis Lamellar ichthyosis X-linked ichthyosis Harlequin Ichthyosis Child syndrome Netherton Syndrome Netherton Syndrome Neutral lipid storage disease Trichothiodystrophy Collodion Baby Kid syndrome · 2011-11-07 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

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?

1,716

1,716 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.

1,716 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).

1,206 in the last 10 years · low confidence

Phrase hits: 475 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,079

Distinct author names in 200 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
    Tavian D13 papers · 2023

    Laboratory of Human Molecular Biology and Genetics, Catholic University of the Sacred Heart, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Fischer J10 papers · 2026

    Centre National de Génotypage, 91057 Evry Cedex, France. fischer@cng.fr

    Papers in Europe PMC
  3. 03
    Missaglia S10 papers · 2023

    CRIBENS-Laboratory of Cellular Biochemistry and Molecular Biology, Catholic University of the Sacred Heart, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Angelini C7 papers · 2023

    Neuromuscular Lab, Department of Neurosciences, University of Padova, Campus Biomedico Pietro D'Abano, Padova 35131, Italy.

    Papers in Europe PMC
  5. 05
    Lass A7 papers · 2025

    Institute of Molecular Biosciences, University of Graz, Heinrichstraße 31/II, 8010 Graz, Austria; BioTechMed-Graz, Austria. Electronic address: achim.lass@uni-graz.at.

    Papers in Europe PMC
  6. 06
    Elias PM6 papers · 2017

    Dermatology Services, Veterans Affairs Medical Center, University of California, San Francisco, CA, USA. eliasp@derm.ucsf.edu

    Papers in Europe PMC
  7. 07
    Haemmerle G6 papers · 2019

    Institute of Molecular Biosciences, University of Graz, Heinrichstraße 31/II, 8010 Graz, Austria. Electronic address: guenter.haemmerle@uni-graz.at.

    Papers in Europe PMC
  8. 08
    Gruber R5 papers · 2025

    Department of Dermatology, Venereology and Allergology, University of Innsbruck, Innsbruck, Austria.

    Papers in Europe PMC
  9. 09
    Moro L5 papers · 2023

    Department of Pharmaceutical Sciences, University of Piemonte Orientale, Novara, Italy.

    Papers in Europe PMC
  10. 10
    Radner FPW5 papers · 2026

    Institute of Molecular Biosciences, University of Graz, Graz, Austria.

    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). 3 trials are registered for neutral lipid storage disease, 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.

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.

3 interventional trials matched neutral lipid storage disease, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: neutral lipid storage disease

3

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 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 Neutral lipid storage disease with ichthyosis — 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.

("Neutral lipid storage disease with ichthyosis" OR "Chanarin-Dorfman syndrome" OR "Dorfman-Chanarin syndrome" OR "NLSDI") OR ("ABHD5" OR "ABHD5 syndrome" OR "ABHD5-related")

Run this search on Europe PMC

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

"Neutral lipid storage disease with ichthyosis" OR "Chanarin-Dorfman syndrome" OR "Dorfman-Chanarin syndrome" OR "NLSDI"

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

Parent-category trials query:

"neutral lipid storage disease"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CDS; DCS

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 (1716) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:41:54.521Z