ORPHA:562569
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
5
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
26
Distinct authors in sample
Gene link
TMEM94
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, neurodevelopmental disorder characterized by global , heart defects, generalized hypertrichosis and facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.
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:0032672
- OMIM:618316
- UMLS:C5193024
Additional Mondo synonyms (1)
intellectual developmental disorder with cardiac defects and dysmorphic facies
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
Definitive — TMEM94
- LiteraturePresent
5 matched papers (5 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?
Yes — we know a specific gene responsible (TMEM94).
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?
5
5 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.
5 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 5 · MeSH hits: 0
Who's working on it?
26
Distinct author names in 5 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.
- 01Al-Hamed MH1 paper · 2020
Genetics Department, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Papers in Europe PMC - 02Ali W1 paper · 2020
Saudi Diagnostics Laboratory, KFSHI, P.O. BOX 6802, Riyadh 12311, Saudi Arabia.
Papers in Europe PMC - 03Alsahan N1 paper · 2020
Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Papers in Europe PMC - 04Cong Y1 paper · 2025
School of Life Sciences, Tsinghua University, Beijing, China.
Papers in Europe PMC - 05Gong D1 paper · 2025
State Key Laboratory of Medicinal Chemical Biology and College of Life Sciences, Nankai University, Tianjin, China. gongds@nankai.edu.cn.
Papers in Europe PMC - 06Gong M1 paper · 2025
State Key Laboratory of Medicinal Chemical Biology and College of Life Sciences, Nankai University, Tianjin, China.
Papers in Europe PMC - 07Hebbar M1 paper · 2020
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98105, USA.
Papers in Europe PMC - 08Huang Z1 paper · 2024
Department of Eugenic Genetics Guiyang Maternal and Child Health Care Hospital Guiyang Guizhou China.
Papers in Europe PMC - 09Imtiaz F1 paper · 2020
Genetics Department, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Papers in Europe PMC - 10Kurdi W1 paper · 2020
Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
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.
"TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome" OR "intellectual developmental disorder with cardiac defects and dysmorphic facies"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome" OR "intellectual developmental disorder with cardiac defects and dysmorphic facies" OR "TMEM94"
Recall-expansion terms: TMEM94
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 2026-07-27T18:20:51.074Z