ORPHA:75858
MORM syndrome
Also known as: Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
Publications
111
61.7th percentile
Trials
0
Interventional, condition-specific
Researchers
603
Distinct authors in sample
Gene link
INPP5E
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic syndromic characterized by language delay and mild to moderate associated with truncal obesity, nonprogressive retinal with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012423
- MeSH:C536984
- OMIM:610156
- UMLS:C1857802
Additional Mondo synonyms (3)
intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome · mental retardation, truncal obesity, retinal dystrophy, and micropenis · mental retardation-truncal obesity-retinal dystrophy-micropenis 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 — INPP5E
- LiteraturePresent
111 matched papers (76 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 (INPP5E).
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?
111
111 papers have ever been published on this condition (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.
111 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).
76 in the last 10 years · medium confidence · 61.7th percentile (publications denominator)
Phrase hits: 111 · MeSH hits: 2
Who's working on it?
603
Distinct author names in 111 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.
- 01Mitchell CA5 papers · 2023
Cancer Program, Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC 3800, Australia.
Papers in Europe PMC - 02Valente EM5 papers · 2022
Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Department of Medicine and Surgery, University of Salerno, Salerno, Italy. Electronic address: e.valente@css-mendel.it.
Papers in Europe PMC - 03
- 04Attié-Bitach T3 papers · 2015
INSERM U781, Hôpital Necker-Enfants Malades, Paris, France
Papers in Europe PMC - 05Conduit SE3 papers · 2024
Cancer Program, Monash Biomedicine Discovery Institute and Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria 3800, Australia.
Papers in Europe PMC - 06Elkhartoufi N3 papers · 2015
Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
Papers in Europe PMC - 07Gleeson JG3 papers · 2014
Neurogenetics Laboratory, Institute for Genomic Medicine, Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, San Diego, California, USA
Papers in Europe PMC - 08Golemis EA3 papers · 2018
Program in Molecular Therapeutics, Fox Chase Cancer Center, Philadelphia, PA, USA. Erica.Golemis@fccc.edu.
Papers in Europe PMC - 09Hildebrandt F3 papers · 2020
Division of Nephrology, Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts 02115.
Papers in Europe PMC - 10
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.
medium 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.
"MORM syndrome" OR "Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome" OR "mental retardation, truncal obesity, retinal dystrophy, and micropenis" OR "mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome"
MeSH descriptor terms unioned into the query: MORM syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"MORM syndrome" OR "Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome" OR "mental retardation, truncal obesity, retinal dystrophy, and micropenis" OR "mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome" OR "INPP5E"
Recall-expansion terms: INPP5E
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:51:32.816Z