ORPHA:48431
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Also known as: CCFDN
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
91
41.2th percentile
Trials
0
Interventional, condition-specific
Researchers
450
Distinct authors in sample
Gene link
CTDP1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by abnormalities of the eye; mildly facial features; and a hypo/demyelinating, symmetric, distal peripheral .
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:0011402
- MeSH:C565822
- OMIM:604168
- UMLS:C1858726
Additional Mondo synonyms (1)
congenital cataracts-facial dysmorphism-neuropathy syndrome
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 — CTDP1
- LiteraturePresent
91 matched papers (26 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 (CTDP1).
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?
91
91 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.
91 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).
26 in the last 10 years · high confidence · 41.2th percentile (publications denominator)
Phrase hits: 91 · MeSH hits: 0
Who's working on it?
450
Distinct author names in 91 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.
- 01Kalaydjieva L17 papers · 2015
Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Hospital Avenue, WA 6009 Nedlands, Australia. luba@cyllene.uwa.edu.au
Papers in Europe PMC - 02Angelicheva D7 papers · 2012
Centre for Human Genetics, Edith Cowan University, Perth, Australia.
Papers in Europe PMC - 03Tournev I7 papers · 2015
Medical University and Ethnic Minorities Health Problems Foundation, Sofia, Bulgaria.
Papers in Europe PMC - 04Gooding R6 papers · 2007
Laboratory for Molecular Genetics, Western Australian Institute for Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Australia.
Papers in Europe PMC - 05Thomas PK6 papers · 2005Papers in Europe PMC
- 06Chandler D4 papers · 2012Papers in Europe PMC
- 07Lochmüller H4 papers · 2014
From the Friedrich-Baur Institute (M.C.W.), Department of Neurology, Ludwig-Maximilians University of Munich, Germany; Gottfried von Preyer'sches Kinderspital (G.B.), Vienna; Ambulatorium Wiental (U.Z.), Center for Developmental Neurology, Vienna; Department of Ophthalmology (A.M.-E., E.M.), University of Vienna, Austria; Harry Perkins Institute for Medical Research and Centre for Medical Research (L.K.), The University of Western Australia, Perth; Institute of Genetic Medicine (H.L.), Newcastle University, Newcastle-upon-Tyne, UK; and Department of Neuropaediatrics (W.M.-F.), Dr. von Hauner'sches Kinderspital, University of Munich, Germany.
Papers in Europe PMC - 08Reilly MM4 papers · 2024
Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, Queen Square, UK. m.reilly@ion.ucl.ac.uk
Papers in Europe PMC - 09Chamova T3 papers · 2015
Department of Neurology, University Hospital Alexandrovska, Medical University of Sofia, Sofia, Bulgaria
Papers in Europe PMC - 10Guergueltcheva V3 papers · 2012
Department of Neurology, Medical University, Sofia 1431, Bulgaria.
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).
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.
high 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.
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.
"Congenital cataracts-facial dysmorphism-neuropathy syndrome" OR "CCFDN"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital cataracts-facial dysmorphism-neuropathy syndrome" OR "CCFDN" OR "CTDP1"
Recall-expansion terms: CTDP1
Study-type breakdown: 0 interventional · 0 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T00:14:32.840Z