ORPHA:457240
X-linked intellectual disability-short stature-overweight syndrome
Publications
690
Trials
0
Interventional, condition-specific
Researchers
31
Distinct authors in sample
Gene link
THOC2
Strong
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
X-linked -short stature-overweight syndrome is a multiple anomalies syndrome characterized by borderline to severe , speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. , tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. features have been reported in some patients but no consistent pattern has been noted.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010496
- OMIM:300957
- UMLS:C0796218
Additional Mondo synonyms (3)
intellectual developmental disorder, X-linked 12, X-linked recessive · intellectual disability, X-linked type 12 · mental retardation, X-linked type 12
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
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Strong — THOC2
- LiteraturePresent
690 matched papers (467 in last 10 years) Source
- Phenotype characterisedPresent
70 HPO annotations (e.g. Hyperkinetic movements; Premature birth; Exotropia) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (THOC2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
70
Associated phenotypes · MONDO:0010496
- Hyperkinetic movements
- Premature birth
- Exotropia
- Cerebellar vermis hypoplasia
- Abnormal cerebellum morphology
Showing 5 of 70 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Thoc2em1Gecz/Y [background:] C57BL/6JArc-Thoc2em1Gecz·MGI:7711308·Mus musculus
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?
690
690 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.
690 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).
467 in the last 10 years · low confidence
Phrase hits: 4 · MeSH hits: 0
Who's working on it?
31
Distinct author names in 4 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.
- 01
- 02Bult CJ1 paper · 2022
The Jackson Laboratory, Bar Harbor, ME, USA. carol.bult@jax.org.
Papers in Europe PMC - 03Chang KF1 paper · 2026
School of Medicine, National Defense Medical University, Taipei 11490, Taiwan.
Papers in Europe PMC - 04Chen JB1 paper · 2026
Department of Radiology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan.
Papers in Europe PMC - 05Eriksson S1 paper · 2025
Department of Animal Biosciences, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Papers in Europe PMC - 06
- 07Greer SU1 paper · 2023
Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Papers in Europe PMC - 08Ji HP1 paper · 2023
Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Papers in Europe PMC - 09Ko CC1 paper · 2026
Department of Medical Imaging, Chi-Mei Medical Center, Tainan 710402, Taiwan.
Papers in Europe PMC - 10Kumar S1 paper · 2026
PhD Program for Cancer Molecular Biology and Drug Discovery, College of Medical Science and Technology, Taipei Medical University, Taipei 11031, Taiwan.
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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-30
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 (3)
- ctis·2024-519833-51-00·Authorised·The efficacy of pipamperone and aripiprazole on behaviors that challenge in people with intellectual disabilities: A series of N-of-1 cross-over trials
skipped — LLM skipped (--skip-llm)
- ctis·2024-513436-14-00·Authorised, ongoing·Evaluation of oxytocin treatment in children with autism and intellectual disability’, Multiple-dose Oxytocine - ASD and Intellectual Disability
skipped — LLM skipped (--skip-llm)
- ctis·2024-516306-28-00·Revoked·Interest of Oxytocin as an Adjuvant Treatment of Psycho-educational Measures in Challenging Behaviors in Children With Autism Spectrum Disorders and Moderate to Severe Intellectual Disability: Feasibility and Safety Study. (OT-DEFI)
skipped — LLM skipped (--skip-llm)
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 X-linked intellectual disability-short stature-overweight syndrome — check Associations / patient organisations on that page.
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.
("X-linked intellectual disability-short stature-overweight syndrome" OR "intellectual developmental disorder, X-linked 12, X-linked recessive" OR "intellectual disability, X-linked type 12" OR "mental retardation, X-linked type 12") OR ("THOC2" OR "THOC2 syndrome" OR "THOC2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked intellectual disability-short stature-overweight syndrome" OR "intellectual developmental disorder, X-linked 12, X-linked recessive" OR "intellectual disability, X-linked type 12" OR "mental retardation, X-linked type 12"
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 (690) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T16:49:00.310Z