RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:1010

Autosomal dominant palmoplantar keratoderma and congenital alopecia

low confidenceDisorder

Also known as: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia · PPK-CA, Stevanovic type · Palmoplantar keratoderma and congenital alopecia, Stevanovic type

Publications

19,201

Trials

0

Interventional, condition-specific

Researchers

240

Distinct authors in sample

Gene link

GJA1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.

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 (4)

autosomal dominant palmoplantar hyperkeratosis and congenital alopecia · palmoplantar keratoderma and congenital alopecia type 1 · palmoplantar keratoderma and congenital alopecia, Stevanovic type · palmoplantar keratoderma with congenital alopecia

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — GJA1

  2. LiteraturePresent

    19,201 matched papers (10,915 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Abnormal nail morphology; Sparse scalp hair; Absent hair) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (GJA1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

37

Associated phenotypes · MONDO:0007083

  • Abnormal nail morphology
  • Sparse scalp hair
  • Absent hair
  • Meningocele
  • Trichorrhexis nodosa

Showing 5 of 37 — 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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

19,201

19,201 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

19,201 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).

10,915 in the last 10 years · low confidence

Phrase hits: 36 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

240

Distinct author names in 36 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
    White TW7 papers · 2023

    Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY 11794, USA. Electronic address: thomas.white@stonybrook.edu.

    Papers in Europe PMC
  2. 02
    Li L5 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  3. 03
    Zhang J4 papers · 2016

    Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.

    Papers in Europe PMC
  4. 04
    Cocozzelli AG2 papers · 2019

    Department of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY 11794-8661, USA.

    Papers in Europe PMC
  5. 05
    Jagannathan V2 papers · 2020

    Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland; DermFocus, University of Bern, Bern, Switzerland.

    Papers in Europe PMC
  6. 06
    Laird DW2 papers · 2024

    Anatomy and Cell Biology, University of Western Ontario, London, ON N6A 5C1, Canada Physiology and Pharmacology, University of Western Ontario, London, ON N6A 5C1, Canada Dale.Laird@schulich.uwo.ca.

    Papers in Europe PMC
  7. 07
    Lee M2 papers · 2016

    Department of Biomedical Sciences Seoul National University College of Medicine 275-1 Yongon-dong Chongno-gu Seoul 110-768 Korea.

    Papers in Europe PMC
  8. 08
    Leeb T2 papers · 2020

    Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland; DermFocus, University of Bern, Bern, Switzerland.

    Papers in Europe PMC
  9. 09
    Li M2 papers · 2016

    Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.

    Papers in Europe PMC
  10. 10
    Li X2 papers · 2021

    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

    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 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-29

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 Autosomal dominant palmoplantar keratoderma and congenital alopecia — 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.

("Autosomal dominant palmoplantar keratoderma and congenital alopecia" OR "Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" OR "PPK-CA, Stevanovic type" OR "Palmoplantar keratoderma and congenital alopecia, Stevanovic type" OR "palmoplantar keratoderma and congenital alopecia type 1" OR "palmoplantar keratoderma with congenital alopecia") OR ("GJA1" OR "GJA1 syndrome" OR "GJA1-related")

Run this search on Europe PMC

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

"Autosomal dominant palmoplantar keratoderma and congenital alopecia" OR "Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" OR "PPK-CA, Stevanovic type" OR "Palmoplantar keratoderma and congenital alopecia, Stevanovic type" OR "palmoplantar keratoderma and congenital alopecia type 1" OR "palmoplantar keratoderma with congenital alopecia"

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

Query health: ok — strategies attempted: phrase; 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
  • Publication count (19201) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T16:11:17.143Z