ORPHA:662175
Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
Also known as: Nabais Sa-de Vries type 2 syndrome
Publications
4,047
Trials
0
Interventional, condition-specific
Researchers
21
Distinct authors in sample
Gene link
SPOP
Definitive
Readiness
3/6
Stages with a signal
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:0032943
- OMIM:618829
- UMLS:C5394221
Additional Mondo synonyms (1)
nabais sa-de vries syndrome, type 2
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.”
3/6 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
Definitive — SPOP
- LiteraturePresent
4,047 matched papers (3,491 in last 10 years) Source
- Phenotype characterisedPresent
44 HPO annotations (e.g. Strabismus; Gastroesophageal reflux; Motor delay) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- 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 (SPOP).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
44
Associated phenotypes · MONDO:0032943
- Strabismus
- Gastroesophageal reflux
- Motor delay
- Sparse eyebrow
- Chronic constipation
Showing 5 of 44 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
4,047
4,047 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.
4,047 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).
3,491 in the last 10 years · low confidence
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
21
Distinct author names in 3 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.
- 01Arboleda VA1 paper · 2024
Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.
Papers in Europe PMC - 02Bukowska-Olech E1 paper · 2024
Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland. ewe.olech@gmail.com.
Papers in Europe PMC - 03Enomoto Y1 paper · 2025
Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
Papers in Europe PMC - 04Ito H1 paper · 2025
Department of Integrative Pharmacology, Graduate School of Medicine, Mie University, Tsu, Japan.
Papers in Europe PMC - 05Jamsheer A1 paper · 2024
Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Papers in Europe PMC - 06Koiwa J1 paper · 2025
Department of Integrative Pharmacology, Graduate School of Medicine, Mie University, Tsu, Japan.
Papers in Europe PMC - 07Kuroda Y1 paper · 2025
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Papers in Europe PMC - 08Kurosawa K1 paper · 2025
Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan. kurosawa-k@ncchd.go.jp.
Papers in Europe PMC - 09Majchrzak-Celińska A1 paper · 2024
Department of Pharmaceutical Biochemistry, Poznan University of Medical Sciences, Poznan, Poland.
Papers in Europe PMC - 10Murakami H1 paper · 2025
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
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 60 · after dedupe 56 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 56 · 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 (56)
- ctis·2025-524233-45-00·Authorised·A first-in-human, randomized, double-blind, placebo-controlled, 3-part study assessing the safety, tolerability, pharmacodynamics and pharmacokinetics of GL0071 after single and repeated ascending subcutaneous doses in healthy normal weight, overweight and obese participants, as well as a 12-week treatment randomized, double blind, placebo-controlled exploratory Proof-of-Concept study in overweight and obese participants.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522488-14-00·Authorised·A clinical study to compare efficacy and safety of two different doses of CagriSema and semaglutide in participants with obesity with or without type 2 diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2025-524688-19-00·Authorised·A Phase III Randomized, Double-blind, Placebo-controlled Multicenter Master Protocol to Evaluate the Efficacy and Safety of Elecoglipron in Participants with Obesity or Overweight with or without Type 2 Diabetes Mellitus (Embold)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523933-24-00·Authorised·A Randomized, Open-label, Parallel-group Phase III Study to Evaluate the Efficacy, Safety, and Tolerability of Elecoglipron Compared with Oral Semaglutide in Adults with Type 2 Diabetes Mellitus (Eluminate-2)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524463-20-00·Authorised·The MODIFY Study: A Phase 3b/4 randomized, double-blind, placebo-controlled, multicentre study evaluating the impact of early intervention with depemokimab on exacerbation rate, clinical remission, lung function decline, and safety in adults and adolescents with at risk Type 2 asthma, conducted up to 156 weeks.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523503-30-00·Authorised·A Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of E2086 in Adults with Narcolepsy
skipped — LLM skipped (--skip-llm)
- ctis·2026-526840-10-00·Authorised·Bioequivalence Study of Dapagliflozin 10 mg
skipped — LLM skipped (--skip-llm)
- ctis·2025-523374-17-03·Authorised·Insulin resistance in type 2 diabetes: evaluating the pathogenic mechanisms of insulin resistance in the myocardium and the effects of the treatments with GLP-1RA and SGLT2i
skipped — LLM skipped (--skip-llm)
- ctis·2025-523674-16-00·Authorised, recruiting·A Phase 3, Randomized, Double-Blind, Placebo-Controlled, 3-Arm Study to Investigate the Safety and Tolerability of Efimosfermin Alfa in Participants With Known or Suspected F2- or F3-Stage Metabolic Dysfunction-Associated Steatohepatitis (MASH) (ZENITH-2)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523912-35-00·Authorised·A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of ALKS 2680 in Adults With Narcolepsy Type 2
skipped — LLM skipped (--skip-llm)
- ctis·2024-520446-31-00·Authorised, recruiting·Efficacy and safety of NNC0487-0111 s.c. once-weekly compared to semaglutide s.c. once-weekly in participants with overweight or obesity, and type 2 diabetes (AMAZE 8)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523106-32-00·Authorised, ongoing·A Phase III, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Once-Weekly RO7795068 Administered to Participants With Obesity or Overweight and Type 2 Diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2025-524921-42-00·Authorised, ongoing·A three-part first-in-human trial to assess safety, tolerability, pharmacokinetics and pharmacodynamics of GUB-UCN2 in healthy lean and obese participants and participants with T2D
skipped — LLM skipped (--skip-llm)
- ctis·2024-520441-23-00·Authorised, ongoing·Efficacy and safety of NNC0487-0111 s.c. once-weekly in participants with overweight or obesity, and type 2 diabetes (AMAZE 2)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524498-17-00·Authorised, recruiting·A two-part, seamless, multicenter, RANDOMIZED, open-label, ADAPTIVE Phase ii/III STUDY OF THE BLOOD-BRAIN barrier PENETRANT RO7771950 versus Tucatinib, both in combination with trastuzumab and capecitabine, in patients with Pretreated unresectable locally advanced or metastatic HER2-positive breast cancer, with or without central nervous system metastases
skipped — LLM skipped (--skip-llm)
- ctis·2025-524438-24-00·Authorised·A Phase 1/2 Open-Label, Single Ascending Dose, First-In-Human Study to Assess Safety and Tolerability of Endoscopic Ultrasound-Guided Pancreatic Infusion of RJVA-001 in Adults With Inadequately Controlled Type 2 Diabetes on Multiple Glucose-Lowering Agents.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522486-29-01·Authorised·Impact of Oral Semaglutide on Platelet Reactivity in Patients with Diabetes Mellitus or Overweight with High Risk or established Cardiovascular Disease: the SEMA-PLAT Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-524514-28-00·Authorised, ongoing·A Multicenter, Randomized, Double-Blind, Placebo-Controlled Dose-Finding Study of CX11 Tablets in Patients with Type 2 Diabetes Mellitus.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523659-73-00·Authorised, ongoing·J3R-MC-YDAL - A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Investigate the Efficacy and Safety of Once Weekly Eloralintide in Adult Participants With Persistent Obesity or Overweight Treated With a Weekly Incretin, With and Without Type 2 Diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2025-523260-20-00·Authorised, ongoing·Protocol Title: Efficacy and safety of once-weekly subcutaneous NNC0662-0419 in participants with type 2 diabetes – a dose-finding study
skipped — LLM skipped (--skip-llm)
- ctis·2025-523304-68-00·Authorised, ongoing·A research study to evaluate the safety of NNC1679-0001 when given to healthy participants and participants with T2DM
skipped — LLM skipped (--skip-llm)
- ctis·2025-523975-48-00·Expired·EVALUATING THE EFFICACY AND SAFETY OF MET097, A FULLY-
BIASED ULTRA LONG-ACTING GLP-1 RA IN PEOPLE WITH
OVERWEIGHT OR OBESITY AND TYPE 2 DIABETES: A PHASE 3,
MULTI-CENTER RANDOMIZED PLACEBO-CONTROLLED TRIAL
(VESPER-5)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521108-23-00·Authorised, ongoing·A multicenter, randomized, double-blind, parallel group, placebo-controlled study of the efficacy and safety of early depemokimab initiation as add-on treatment in COPD patients with type 2 inflammation.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523868-20-00·Authorised·Efficacy and safety of a novel dual pH-dependent delayed-release ColeseveLam for the trEatment of bile Acid diarrhoea: a Randomized, double-blind, parallel-group, placebo-controlled clinical trial - CLEAR
skipped — LLM skipped (--skip-llm)
- ctis·2025-521936-12-00·Authorised, ongoing·A Placebo-Controlled, Double-Blind, Randomized, Phase 3 Study to Evaluate the Effect of Obicetrapib 10 mg and Ezetimibe 10 mg Fixed-Dose Combination or Obicetrapib 10 mg Daily on Top of Guideline-Recommended Lipid-Lowering Therapy in Participants With Type 2 Diabetes and/or Metabolic Syndrome (RUBENS trial)
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 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability 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.
("Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome" OR "Nabais Sa-de Vries type 2 syndrome" OR "nabais sa-de vries syndrome, type 2") OR ("SPOP" OR "SPOP syndrome" OR "SPOP-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome" OR "Nabais Sa-de Vries type 2 syndrome" OR "nabais sa-de vries syndrome, type 2"
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 (4047) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T20:09:45.543Z