ORPHA:352530
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Also known as: Autosomal recessive intellectual disability due to TRAPPC9 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
7
23.5th percentile
Trials
0
Interventional, condition-specific
Researchers
62
Distinct authors in sample
Gene link
TRAPPC9
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic primarily characterized by moderate to severe , true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.
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:0018123
- UMLS:C4706414
Additional Mondo synonyms (2)
autosomal recessive intellectual disability due to TRAPPC9 deficiency · intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
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 — TRAPPC9
- LiteraturePresent
7 matched papers (7 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 (TRAPPC9).
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?
7
7 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.
7 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).
7 in the last 10 years · high confidence · 23.5th percentile (publications denominator)
Phrase hits: 7 · MeSH hits: 0
Who's working on it?
62
Distinct author names in 7 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.
- 01Bodnar B2 papers · 2023
Center for Metabolic Disease Research, Department of Pathalogy and Laboratory Medicine, Temple University Lewis Katz School of Medicine, Philadelphia, PA, USA.
Papers in Europe PMC - 02Hu W2 papers · 2023
Laboratory of Stem Cell Biology, State Key Laboratory of Biotherapy, West China Hospital, West China Medical School, Sichuan University, Chengdu 610041, China.
Papers in Europe PMC - 03Li X2 papers · 2023
Department of Epidemiology, School of Public Health and Tropical Medicine, Tulane University, New Orleans, LA 70112, USA.
Papers in Europe PMC - 04Mo X2 papers · 2023
Laboratory of Stem Cell Biology, State Key Laboratory of Biotherapy, West China Hospital, West China Medical School, Sichuan University, Chengdu 610041, China.
Papers in Europe PMC - 05Zhang T2 papers · 2024
College of Animal Science, Xinjiang Agricultural University, Urumqi, China.
Papers in Europe PMC - 06Zhang Y2 papers · 2023
Center for Stem Cell Research and Application, Institute of Blood Transfusion, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Chengdu 610052, China.
Papers in Europe PMC - 07Abubaker R1 paper · 2022
Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Papers in Europe PMC - 08Ahmed AE1 paper · 2022
Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Papers in Europe PMC - 09Amin M1 paper · 2022
Faculty of Medicine, Al-Neelain University, Khartoum, Sudan.
Papers in Europe PMC - 10Babai A1 paper · 2022
Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
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.
"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" OR "Autosomal recessive intellectual disability due to TRAPPC9 deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" OR "Autosomal recessive intellectual disability due to TRAPPC9 deficiency" OR "TRAPPC9"
Recall-expansion terms: TRAPPC9
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 2026-07-27T14:12:47.934Z