ORPHA:75858
MORM syndrome
Also known as: Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
Publications
1,355
Trials
0
Interventional, condition-specific
Researchers
603
Distinct authors in sample
Gene link
INPP5E
Definitive
Readiness
3/6
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.”
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 — INPP5E
- LiteraturePresent
1,355 matched papers (937 in last 10 years) Source
- Phenotype characterisedPresent
29 HPO annotations (e.g. Moderate intellectual disability; Delayed speech and language development; Hypotonia) 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 (INPP5E).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
29
Associated phenotypes · MONDO:0012423
- Moderate intellectual disability
- Delayed speech and language development
- Hypotonia
- Nyctalopia
- Retinal dystrophy
Showing 5 of 29 — 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?
1,355
1,355 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.
1,355 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).
937 in the last 10 years · low confidence
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 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)
- ctis·2024-520425-37-00·Authorised·A Phase 1/2 Open-label, Multi-centre, Dose-exploration Trial to Evaluate the Safety and Preliminary Efficacy of VG801 via Subretinal Injection in Treatment of Patients with Biallelic ABCA4 Mutation-Associated Retinal Dystrophy.
skipped — LLM skipped (--skip-llm)
- ctis·2025-520665-47-00·Authorised, ongoing·A Phase I/IIa Clinical Trial to Assess the Safety, Tolerability, and Efficacy of a Single Intravitreal Injection of SPVN20 Gene Therapy in Participants with Advanced Rod Cone Dystrophy
skipped — LLM skipped (--skip-llm)
- ctis·2022-501250-12-01·Expired·Clinical study to evaluate the safety and tolerability of SPVN06 (novel gene therapy) in a subset of patients with rod cone dystrophy (RCD).
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 MORM 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.
("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 (MESH:"MORM syndrome") OR ("INPP5E" OR "INPP5E syndrome" OR "INPP5E-related" OR "MORM" OR "MORM-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; 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
- Publication count (1355) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T01:51:32.816Z