ORPHA:603684
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
Also known as: PERCHING syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare genetic, multiple anomalies syndrome characterized by the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome.
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.
Is anyone studying this?
3,167
3,167 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=183) is 38.
3,167 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
2,060 in the last 10 years · low confidence
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (KLHL7).
GenCC classification: Definitive.
Who's working on it?
950
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.
- 01Chai L7 papers · 2026
Department of Poultry Science, The University of Georgia, Athens, GA 30602, USA.
Papers in Europe PMC - 02Paneru B6 papers · 2026
Department of Poultry Science, College of Agricultural & Environmental Sciences, University of Georgia, Athens, GA 30602, USA.
Papers in Europe PMC - 03Dahal S5 papers · 2026
Department of Poultry Science, College of Agricultural & Environmental Sciences, University of Georgia, Athens, GA 30602, USA.
Papers in Europe PMC - 04Dhungana A5 papers · 2026
Department of Poultry Science, College of Agricultural & Environmental Sciences, University of Georgia, Athens, GA 30602, USA.
Papers in Europe PMC - 05Wang X5 papers · 2025
School of Automobile and Transportation, Tianjin University of Technology and Education, Tianjin 300222, China.
Papers in Europe PMC - 06Zhang J5 papers · 2026
State Key Laboratory for Manufacturing Systems Engineering, Xi'an Jiaotong University, No.28, Xianning West Road, Xi'an 710049, Shaanxi, P.R. China.
Papers in Europe PMC - 07Li X4 papers · 2026
Southwest Jiaotong University, School of Information Science and Technology, Chengdu, 611756, China.
Papers in Europe PMC - 08Liu T4 papers · 2026
School of Automation and Intelligent Sensing, Shanghai Jiao Tong University, Shanghai 200240, China.
Papers in Europe PMC - 09Yang X4 papers · 2025
Department of Poultry Science, College of Agricultural & Environmental Sciences, University of Georgia, Athens, GA 30602, USA.
Papers in Europe PMC - 10Anderson MG3 papers · 2025
Virginia Tech, School of Animal Sciences, 175 West Campus Drive, Blacksburg, VA 24061, USA.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome" OR "PERCHING syndrome" OR "CISS3" OR "KLHL7 cold-induced sweating syndrome" OR "KLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome" OR "PERCHING" OR "cold-induced sweating syndrome caused by mutation in KLHL7" OR "cold-induced sweating syndrome type 3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome" OR "PERCHING syndrome" OR "CISS3" OR "KLHL7 cold-induced sweating syndrome" OR "KLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome" OR "PERCHING" OR "cold-induced sweating syndrome caused by mutation in KLHL7" OR "cold-induced sweating syndrome type 3" OR "KLHL7" OR "cold-induced sweating syndrome" OR "cold-induced sweating syndrome - hyperthermia spectrum"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:617055 UMLS:C4310742
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
- Publication count (3167) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity