ORPHA:289465
Isolated congenital adermatoglyphia
Also known as: Congenital absence of fingerprints · Immigration delay disease
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
91
58.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,321
Distinct authors in sample
Gene link
SMARCAD1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Isolated adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007619
- MeSH:C565010
- OMIM:136000
- UMLS:C1852150
Additional Mondo synonyms (4)
ADERM · congenital absence of fingerprints · immigration delay disease · isolated congenital adermatoglyphia
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
Strong — SMARCAD1
- LiteraturePresent
91 matched papers (64 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 (SMARCAD1).
GenCC classification: Strong.
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).
64 in the last 10 years · high confidence · 58.3th percentile (publications denominator)
Phrase hits: 91 · MeSH hits: 0
Who's working on it?
1,321
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.
- 01Lee J25 papers · 2024
Department of Statistics, Feng Chia University, Taichung 407, Taiwan;
Papers in Europe PMC - 02Park C16 papers · 2021
Department of Dermatology, Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul
Papers in Europe PMC - 03Silverberg J14 papers · 2021
Department of Dermatology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA
Papers in Europe PMC - 04Kim J13 papers · 2021
Department of Dermatology, Kangnam Sacred Heart Hospital, Hallym University
Papers in Europe PMC - 05Simpson E13 papers · 2021
Department of Dermatology, Oregon Health & Science University, Portland, OR, USA
Papers in Europe PMC - 06Cho S11 papers · 2021
Department of Dermatology, Incheon St. Mary’s Hospital, The Catholic University of Korea, Seoul, Korea
Papers in Europe PMC - 07Lee D11 papers · 2021
Department of Dermatology, Seoul National University Hospital, Seoul
Papers in Europe PMC - 08Wollenberg A11 papers · 2025
Department of Dermatology and Allergy, Ludwig-Maximilians-Universität München, Munich, Germany.
Papers in Europe PMC - 09Guttman-Yassky E10 papers · 2023
Icahn School of Medicine at Mount Sinai, New York, New York, USA
Papers in Europe PMC - 10Lee Y10 papers · 2021
Department of Dermatology, Konkuk University School of Medicine, Seoul, Korea
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.
"Isolated congenital adermatoglyphia" OR "Congenital absence of fingerprints" OR "Congenital absence of the fingerprints" OR "Immigration delay disease" OR "ADERM"
MeSH descriptor terms unioned into the query: Fingerprints, Absence of
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated congenital adermatoglyphia" OR "Congenital absence of fingerprints" OR "Congenital absence of the fingerprints" OR "Immigration delay disease" OR "ADERM" OR "Fingerprints, Absence of" OR "SMARCAD1"
Recall-expansion terms: SMARCAD1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T12:13:29.967Z