ORPHA:46059
Lathosterolosis
Also known as: Sterol C5-desaturase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
150
60.9th percentile
Trials
0
Interventional, condition-specific
Researchers
807
Distinct authors in sample
Gene link
SC5D
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, anomalies (including limb and kidney anomalies), , and liver 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:0011816
- MeSH:C537880
- OMIM:607330
- UMLS:C1846421
Additional Mondo synonyms (2)
lathosterolosis · sterol C5-desaturase deficiency
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SC5D
- LiteraturePresent
150 matched papers (73 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (SC5D).
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?
150
150 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.
150 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).
73 in the last 10 years · medium confidence · 60.9th percentile (publications denominator)
Phrase hits: 150 · MeSH hits: 0
Who's working on it?
807
Distinct author names in 150 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.
- 01Porter FD13 papers · 2021
Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA. fdporter@helix.nih.gov
Papers in Europe PMC - 02Korade Z10 papers · 2026
Department of Chemistry and Vanderbilt Institute of Chemical Biology, Vanderbilt University, Nashville, TN 37235, USA.
Papers in Europe PMC - 03Mirnics K9 papers · 2026
Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University , Nashville, Tennessee 37235, United States.
Papers in Europe PMC - 04Wassif CA8 papers · 2021
3Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD USA.
Papers in Europe PMC - 05Corso G6 papers · 2019
Gaetano Corso, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Papers in Europe PMC - 06Iwata J5 papers · 2024
1Department of Diagnostic & Biomedical Sciences, The University of Texas Health Science Center at Houston, School of Dentistry, Houston, TX USA.
Papers in Europe PMC - 07Kelley RI5 papers · 2011Papers in Europe PMC
- 08Parenti G5 papers · 2015Papers in Europe PMC
- 09Porter NA5 papers · 2025
Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University , Nashville, Tennessee 37235, United States.
Papers in Europe PMC - 10Rossi M5 papers · 2015
Department of Pediatrics, Federico II University, Naples, Italy.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
Recruiting or not-yet-recruiting
- NCT05047354·RECRUITING·Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
Conditions: Smith Lemli Opitz Syndrome · CHILD Syndrome · Lathosterolosis · Desmosterolosis·Matched via name phrase
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.
"Lathosterolosis" OR "Sterol C5-desaturase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lathosterolosis" OR "Sterol C5-desaturase deficiency" OR "SC5D"
Recall-expansion terms: SC5D
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
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 2026-07-27T00:08:59.735Z