ORPHA:662175
Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
Also known as: Nabais Sa-de Vries type 2 syndrome
Publications
3
15.2th percentile
Trials
2
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — SPOP
- LiteraturePresent
3 matched papers (3 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 trialPresent
2 matched on ClinicalTrials.gov
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)
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?
3
3 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.
3 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).
3 in the last 10 years · high confidence · 15.2th percentile (publications denominator)
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?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 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?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"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"
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" OR "SPOP"
Recall-expansion terms: SPOP
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T20:09:45.543Z