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ORPHA:477

KID syndrome

low confidenceDisorder

Also known as: Ichthyosis hystrix Rheydt type · KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome · Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome · Senter syndrome

Publications

1,431

Trials

0

Interventional, condition-specific

Researchers

997

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

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 (3)

Keratitis Ichthyosis Deafness Syndrome · ichthyosis hystrix Rheydt type · keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness 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.”

4/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,431 matched papers (780 in last 10 years) Source

  3. Phenotype characterisedPresent

    126 HPO annotations (e.g. Furrowed tongue; Sparse eyebrow; Blindness) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. urea 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

126

Associated phenotypes · MONDO:0018781

  • Furrowed tongue
  • Sparse eyebrow
  • Blindness
  • Recurrent corneal erosions
  • Sensorineural hearing impairment

Showing 5 of 126 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA ureaErythroderma Epidermolytic hyperkeratosis Lamellar ichthyosis X-linked ichthyosis Harlequin Ichthyosis Child syndrome Netherton Syndrome Netherton Syndrome Neutral lipid storage disease Trichothiodystrophy Collodion Baby Kid syndrome · 2011-11-07 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

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?

1,431

1,431 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,431 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).

780 in the last 10 years · low confidence

Phrase hits: 1,424 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

997

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.

  1. 01
    Dale N7 papers · 2025

    School of Life Sciences, University of Warwick, Coventry, United Kingdom.

    Papers in Europe PMC
  2. 02
    White TW7 papers · 2025

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

    Papers in Europe PMC
  3. 03
    Fischer J5 papers · 2026

    Institute of Human Genetics, Medical Faculty and Medical Center, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  4. 04
    de Wolf E4 papers · 2021

    School of Life Sciences, University of Warwick, Coventry, United Kingdom.

    Papers in Europe PMC
  5. 05
    Mammano F4 papers · 2025

    Institute of Biochemistry and Cell Biology, Italian National Research Council, Rome, Italy; Department of Physics and Astronomy "G. Galilei", University of Padova, Padova, Italy.

    Papers in Europe PMC
  6. 06
    Sellitto C4 papers · 2023

    Department of Physiology and Biophysics, Stony Brook University, Stony Brook, New York, USA.

    Papers in Europe PMC
  7. 07
    Traupe H4 papers · 2026

    Department of Dermatology, University Hospital of Münster, Münster, Germany.

    Papers in Europe PMC
  8. 08
    Cheng C3 papers · 2025

    College of Veterinary Medicine, Yangzhou University, Yangzhou, Jiangsu, China.

    Papers in Europe PMC
  9. 09
    Cheng D3 papers · 2025

    College of Veterinary Medicine, Yangzhou University, Yangzhou, Jiangsu, China.

    Papers in Europe PMC
  10. 10
    García IE3 papers · 2016

    Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso Valparaíso, Chile.

    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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 KID syndrome — 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.

("KID syndrome" OR "Ichthyosis hystrix Rheydt type" OR "KID/HID syndrome" OR "Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome" OR "Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome" OR "Senter syndrome" OR "Keratitis Ichthyosis Deafness Syndrome") OR ("KID-related")

Run this search on Europe PMC

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

"KID syndrome" OR "Ichthyosis hystrix Rheydt type" OR "KID/HID syndrome" OR "Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome" OR "Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome" OR "Senter syndrome" OR "Keratitis Ichthyosis Deafness Syndrome"

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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1431) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T13:57:46.267Z