ORPHA:98907
Neutral lipid storage disease with ichthyosis
Also known as: CDS · Chanarin-Dorfman syndrome · DCS · Dorfman-Chanarin syndrome · NLSDI
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
475
80.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,079
Distinct authors in sample
Gene link
ABHD5
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010155
- OMIM:275630
- UMLS:C0268238
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — ABHD5
- LiteraturePresent
475 matched papers (231 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
475
475 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.
475 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).
231 in the last 10 years · medium confidence · 80.8th percentile (publications denominator)
Phrase hits: 475 · MeSH hits: 0
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.
- 01Tavian D13 papers · 2023
Laboratory of Human Molecular Biology and Genetics, Catholic University of the Sacred Heart, Milan, Italy.
Papers in Europe PMC - 02Fischer J10 papers · 2026
Centre National de Génotypage, 91057 Evry Cedex, France. fischer@cng.fr
Papers in Europe PMC - 03Missaglia S10 papers · 2023
CRIBENS-Laboratory of Cellular Biochemistry and Molecular Biology, Catholic University of the Sacred Heart, Milan, Italy.
Papers in Europe PMC - 04Angelini C7 papers · 2023
Neuromuscular Lab, Department of Neurosciences, University of Padova, Campus Biomedico Pietro D'Abano, Padova 35131, Italy.
Papers in Europe PMC - 05Lass 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 - 06Elias PM6 papers · 2017
Dermatology Services, Veterans Affairs Medical Center, University of California, San Francisco, CA, USA. eliasp@derm.ucsf.edu
Papers in Europe PMC - 07Haemmerle 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 - 08Gruber R5 papers · 2025
Department of Dermatology, Venereology and Allergology, University of Innsbruck, Innsbruck, Austria.
Papers in Europe PMC - 09Moro L5 papers · 2023
Department of Pharmaceutical Sciences, University of Piemonte Orientale, Novara, Italy.
Papers in Europe PMC - 10Radner 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 2026-07-26This 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"
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" OR "ABHD5" OR "lysosomal lipid storage disorder"
Recall-expansion terms: ABHD5, lysosomal lipid storage disorder
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: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T05:41:54.521Z