ORPHA:324410
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4
17.7th percentile
Trials
0
Interventional, condition-specific
Researchers
21
Distinct authors in sample
Gene link
CLIC2
Moderate
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
X-linked -cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic disorder characterized by profound , global with absent speech, , large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.
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:0010473
- OMIM:300886
- UMLS:C3550913
Additional Mondo synonyms (6)
MRXS32 · intellectual developmental disorder, X-linked syndromic 32, X-linked recessive · intellectual disability, X-linked, syndromic 32 · intellectual disability, X-linked, syndromic type 32 · mental retardation, X-linked, syndromic 32 · mental retardation, X-linked, syndromic type 32
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
Moderate — CLIC2
- LiteraturePresent
4 matched papers (4 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?
Probably — there is moderate evidence for CLIC2.
GenCC classification: Moderate.
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?
4
4 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
4 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).
4 in the last 10 years · high confidence · 17.7th percentile (publications denominator)
Phrase hits: 4 · MeSH hits: 0
Who's working on it?
21
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.
- 01Wang X2 papers · 2024
Department of Obstetrics, Key Laboratory of Birth Defects and Related Disease of Women and Children of MOE, State Key Laboratory of Biotherapy, West China Second Hospital, Sichuan University, Chengdu, China. xiangwang@scu.edu.cn.
Papers in Europe PMC - 02Ballout RA1 paper · 2021
Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD 20814, USA.
Papers in Europe PMC - 03Blesson AE1 paper · 2021
Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Papers in Europe PMC - 04Brand BA1 paper · 2021
Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Papers in Europe PMC - 05Chang G1 paper · 2024
Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 06Chen H1 paper · 2024
Department of Obstetrics, Key Laboratory of Birth Defects and Related Disease of Women and Children of MOE, State Key Laboratory of Biotherapy, West China Second Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 07Dai X1 paper · 2024
Department of Obstetrics, Key Laboratory of Birth Defects and Related Disease of Women and Children of MOE, State Key Laboratory of Biotherapy, West China Second Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 08Deng D1 paper · 2024
Department of Obstetrics, Key Laboratory of Birth Defects and Related Disease of Women and Children of MOE, State Key Laboratory of Biotherapy, West China Second Hospital, Sichuan University, Chengdu, China. dengd@scu.edu.cn.
Papers in Europe PMC - 09Ding Y1 paper · 2024
Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 10El-Hattab AW1 paper · 2021
Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah P. O. Box 27272, United Arab Emirates.
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.
"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome" OR "MRXS32" OR "intellectual developmental disorder, X-linked syndromic 32, X-linked recessive" OR "intellectual disability, X-linked, syndromic 32" OR "intellectual disability, X-linked, syndromic type 32" OR "mental retardation, X-linked, syndromic 32" OR "mental retardation, X-linked, syndromic type 32"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome" OR "MRXS32" OR "intellectual developmental disorder, X-linked syndromic 32, X-linked recessive" OR "intellectual disability, X-linked, syndromic 32" OR "intellectual disability, X-linked, syndromic type 32" OR "mental retardation, X-linked, syndromic 32" OR "mental retardation, X-linked, syndromic type 32" OR "CLIC2"
Recall-expansion terms: CLIC2
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 2026-07-27T13:36:05.895Z