ORPHA:3095
Atypical Rett syndrome
Also known as: Atypical RTT · Rett syndrome variant
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
939
91.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,375
Distinct authors in sample
Gene link
PDLIM7
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017746
- UMLS:C2748910
Additional Mondo synonyms (1)
atypical RTT
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
Limited — PDLIM7
- LiteraturePresent
939 matched papers (630 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?
Possibly — only limited evidence so far for PDLIM7.
GenCC classification: Limited.
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?
939
939 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=5449) is 41.
939 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).
630 in the last 10 years · high confidence · 91.6th percentile (publications denominator)
Phrase hits: 939 · MeSH hits: 0
Who's working on it?
1,375
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.
- 01Neul JL16 papers · 2025
Department of Pediatrics, Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 02Benke TA15 papers · 2026
Department of Pediatrics and Neurology, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO, USA.
Papers in Europe PMC - 03Percy AK15 papers · 2025
Civitan International Research Center, University of Alabama at Birmingham, Alabama. Electronic address: apercy@uab.edu.
Papers in Europe PMC - 04Marsh ED13 papers · 2026
Division of Neurology, Children's Hospital of Philadelphia, School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Papers in Europe PMC - 05Downs J11 papers · 2026
The Kids Research Institute Australia, The Centre for Child Health Research, University of Western Australia, Perth, WA, Australia.
Papers in Europe PMC - 06Leonard H9 papers · 2026
The Kids Research Institute Australia, University of Western Australia, Perth, WA, Australia.
Papers in Europe PMC - 07Christodoulou J7 papers · 2026
Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address: john.christodoulou@mcri.edu.au.
Papers in Europe PMC - 08
- 09Fu C6 papers · 2025
Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee.
Papers in Europe PMC - 10Glaze DG5 papers · 2023
Department of Pediatrics, Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.
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.
"Atypical Rett syndrome" OR "Atypical RTT" OR "Rett syndrome variant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Atypical Rett syndrome" OR "Atypical RTT" OR "Rett syndrome variant" OR "PDLIM7"
Recall-expansion terms: PDLIM7
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 2026-07-26T22:12:29.854Z